Xiao P. Peng

Submitted by Anonymous (not verified) on
Full Name
Xiao P. Peng
Profile Image URL
https://assets.montefioreeinstein.org/profiles/images/Peng_Xiao_P_MD_2x_0.jpg
Type
Provider
Faculty
First Name
Xiao
Last Name
Peng
NPI
1700317286
Faculty ID
18351
Employment Status
Full Time
Patient Type
Pediatric
Department
einstein-dept-pediatrics
einstein-dept-genetics
Languages
Mandarin
French
Gender
Female
Email
xpeng@montefiore.org
Phone
718-741-2323
Titles
Type
Academic
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Assistant Professor
Division
Pediatric Genetic Medicine
Type
Academic
Department
Department of Genetics
Department Link
Rank
Assistant Professor
Type
Clinical
Title
Director, Advanced Diagnostics, New York Center for Rare Diseases
Tags
me-patientcare-rarediseases
Type
Administrative
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.87931 40.87827)
Address Line 1
3326 Bainbridge Avenue
City
Bronx
State
NY
Zip
10467
Location Title
Children's Hospital at Montefiore
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.87885 40.88037)
Address Line 1
3415 Bainbridge Avenue
City
Bronx
State
NY
Zip
10467-2403
Location Title
The Children's Hospital at Montefiore
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.80109 41.01639)
Address Line 1
141 South Central Avenue
City
Hartsdale
State
NY
Zip
10530
Location Title
Montefiore At 141 South Central Avenue
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84154 40.84612)
Address Line 1
1250 Waters place
City
Bronx
State
NY
Zip
10461-2720
Location Title
Montefiore at 1250 Waters Place
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8782381 40.8799784)
Room
904
Address Line 1
Montefiore Medical Center
Address Line 3
3411 Wayne Avenue
City
Bronx
State
NY
Zip
10467
Location Title
Montefiore Medical Center
Education and Trainings
Education Type Label
Medical Education
Education Institution
Cornell University Medical College
Education Type Label
Fellowship
Education Institution
Johns Hopkins University School of Medicine
Education Type Label
Residency
Education Institution
Johns Hopkins University School of Medicine
CHAM Provider
On
Professional Title
M.D.
Ph.D.
EMR ID
203250
Biography

<p>Xiao P. Peng, MD, PhD, is Director of the Genetics of Blood and Immunity Clinic and Co-Director of the New York Center for Rare Diseases at the Children&rsquo;s Hospital at Montefiore Einstein and Assistant Professor of Pediatrics and Genetics at our Albert Einstein College of Medicine. Dr. Peng cares for patients with complex, undiagnosed disorders, with unique and specific expertise in the diagnosis and care of genetically-driven disorders of blood and immunity (GBIs). She integrates the tools of molecular medicine and the conceptual understanding of human genetics and pathobiological mechanisms to identify novel disease-causing mechanisms and strategies for helping patients.</p><p>After receiving her Bachelor of Science in chemistry from the California Institute of Technology in 2005, Dr. Peng earned her Doctor of Philosophy in biochemistry and cellular and molecular biology at Sloan Kettering Institute in 2015 and her Doctor of Medicine at Weill Cornell Medical College in 2017. She then completed a pediatrics-medical genetics combined residency at Johns Hopkins University in 2021 and served an additional year as both Chief Resident and a Research Fellow. During her residency and fellowship, she also worked as a geneticist for the Genetics and Genomics Unit at the Center for Chronic Immunodeficiency, University of Freiburg, Germany.</p><p>Dr. Peng&rsquo;s research focuses on the nexus of genome maintenance, transcriptional gene regulation and post-translational modifications. She is greatly interested in host-pathogen co-evolution, or how interactions with our fellow species, particularly microbes, have shaped human genomes and human history. She has been principal investigator and co-investigator on a number of funded research projects and contributed her time to many initiatives that advance the goals of the GBI community at large. Her work has been published in numerous peer-reviewed journals, case reports, book chapters, monographs, reviews and abstracts, and she has given many invited presentations. She serves in several groups within the ClinGen Immunology CDWG and as a reviewer for <em>Genetics in Medicine, Clinical Immunology, Frontiers in Immunology</em> and the <em>Journal of Clinical Immunology</em>.</p><p>Dr. Peng is board certified by the American Board of Medical Genetics and Genomics in Clinical Genetics and Genomics and the American Board of Pediatrics in General Pediatrics. She holds multiple leadership roles in the North American Immuno-Hematology Clinical Education & Research (NICER) Consortium. She serves as Geneticist for the Johns Hopkins Ataxia Telangiectasia Clinic and the Genetic Disorders of Mucociliary Clearance Consortium and Related Research Network. She is also an active member of the Clinical Immunological Society (CIS) and the European Society of Human Genetics.</p>

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Sara S. Rabin-Havt

Submitted by Anonymous (not verified) on
Full Name
Sara S. Rabin-Havt
Profile Image URL
https://assets.montefioreeinstein.org/profiles/images/physphoto/Rabin_Havt_Sara_MD_420x504.jpg
Type
Provider
Faculty
First Name
Sara
Last Name
Rabin-Havt
NPI
1194098509
Faculty ID
16281
Employment Status
Full Time
Patient Type
Adult
Department
einstein-dept-obstetrics-gynecology-womens-health
Gender
Female
Email
sschonfe@montefiore.org
Phone
718-405-8150
Titles
Type
Academic
Department
Department of Obstetrics & Gynecology and Women's Health
Department Link
Rank
Assistant Professor
Division
Reproductive & Medical Genetics
Type
Clinical
Title
Attending Reproductive and Medical Genetics
Type
Clinical
Title
Director, Education, New York Center for Rare Diseases
Tags
me-patientcare-rarediseases
Type
Administrative
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84475 40.84623)
Address Line 1
1695 Eastchester Road
City
Bronx
State
NY
Zip
10461
Location Title
Montefiore Medical Park at Eastchester
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.845166 40.8462736)
Room
301
Address Line 1
Montefiore Medical Park
Address Line 3
1695 Eastchester Road
City
Bronx
State
NY
Zip
10461
Location Title
Montefiore Medical Park
Education and Trainings
Education Type Label
Medical Education
Education Institution
Icahn School of Medicine at Mt. Sinai
Education Type Label
Fellowship
Education Institution
Montefiore Medical Center
Education Type Label
Residency
Education Institution
Montefiore Medical Center
CHAM Provider
Off
Professional Title
M.D.
Clinical Focus

Reproductive and medical genetics, specifically prenatal and preconception consultation and testing and consultation and testing for hereditary cancer syndromes.

Research Focus

Principal investigator on a multi-center study investigating the genetic etiologies of non-immune fetal hydrops (NIHF). In addition, I participate in studies examining access to genetic consultation and testing pre- and post-pandemic

EMR ID
55649
Biography

<p>Sara Schonfeld Rabin-Havt, MD, FACOG, FACMG is an attending physician and assistant professor in the division of Reproductive and Medical Genetics at Montefiore Einstein. Her clinical focus lies in prenatal and preconception genetic counseling, screening and testing; prenatal diagnosis; evaluation of recurrent pregnancy loss; genetic counseling and testing for hereditary cancer syndromes.</p><p>After earning her Bachelor of Arts from Cornell University (2005) and her Doctor of Medicine from Mt. Sinai School of Medicine (2009), Dr. Rabin-Havt came to Montefiore Einstein to complete residency in Obstetrics &amp; Gynecology and Women&rsquo;s Health (2013). She worked as a generalist in private practice before returning to Montefiore Einstein to complete a residency in medical genetics and genomics (2019).</p><p>Building on her clinical focus, Dr. Rabin-Havt is a principal investigator on a multi-center study investigating the genetic etiologies of non-immune fetal hydrops (NIHF). In addition, she participates in resident, fellow and medical student education and has been inducted into the Leo M. Davidoff Society for Outstanding Achievement in medical student teaching at Einstein. Her work has been published in numerous peer-reviewed journals.</p><p>Dr. Rabin-Havt is a fellow of the American College of Obstetrics and Gynecology (ACOG) and the American College of Medical Genetics (ACMG). She has served as a board member of the NYS Genetics Task Force and a committee member of the American College of Medical Genetics (ACMG) committee on Social, Ethical, and Legal issues (SELI). She was a member of the curriculum committee of the CREOG Cancer Genetics Curriculum which is available to OB/GYN residents nationwide.</p><p>Dr. Rabin-Havt is board certified by the American Board of Obstetrics and Gynecology (ABOG) and the American Board of Medical Genetics and Genomics (ABMGG).</p>

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Harry Ostrer

Submitted by Anonymous (not verified) on
Full Name
Harry Ostrer
Profile Image URL
https://documentapi-fargate-documentbucket-15qi4tpdvnhlz.s3.amazonaws.com/218/31048850-3a87-11ed-ab37-a3ccd29aa261.jpg
Type
Provider
Faculty
First Name
Harry
Last Name
Ostrer
NPI
1639163272
Faculty ID
12751
Employment Status
Full Time
Patient Type
Pediatric
Department
einstein-dept-pathology
einstein-dept-pediatrics
Gender
Male
Email
harry.ostrer@einsteinmed.edu
Phone
718-430-8605
Titles
Type
Academic
Department
Department of Pathology
Department Link
Rank
Professor
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Professor
Type
Clinical
Title
Professor of Pathology, Albert Einstein College of Medicine
Type
Clinical
Title
Professor of Genetics, Albert Einstein College of Medicine
Type
Clinical
Title
Professor of Pediatrics, Albert Einstein College of Medicine
Type
Clinical
Type
Administrative
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8444 40.85103)
Address Line 1
1300 Morris Park Avenue
City
Bronx
State
NY
Zip
10461-1900
Location Title
Montefiore at AECOM
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8459022 40.8504961)
Building
Ullmann Building
Room
817
Address Line 1
Albert Einstein College of Medicine
Address Line 2
Jack and Pearl Resnick Campus
Address Line 3
1300 Morris Park Avenue
City
Bronx
State
NY
Zip
10461
Location Title
Albert Einstein College of Medicine
Education and Trainings
Education Type Label
Medical Education
Education Institution
Columbia Univ College of Physicians and Surgeons
Education Type Label
Fellowship
Education Institution
Johns Hopkins University School of Medicine
Education Type Label
Residency
Education Institution
Johns Hopkins University School of Medicine
Professional Interests

<p>Genetic differences play an important role in normal human development and disease. These differences can also play a role in the progression of disease and in individual responses to therapy.&nbsp; The research mission of our laboratory is to use of modern genomics to help understand the roles of human genetic variation in these processes.&nbsp;We have developed functional variant assays to understand the phenotypic effects of genetic variants.&nbsp;</p>
<p><span style="text-decoration: underline;">Genetic variation in human populations</span>. We have characterized genetic variation in a number of human populations (Hispanics and Latinos, Jewish HapMap Project, The Ashkenazi Genome Consortium) to understand the origins and migrations of these populations. Currently, we are exploring the role of natural selection in the formation of some of these populations.&nbsp; We are carrying the work forward to understand disease susceptibilities within these groups.&nbsp; A key feature of this work is translating new findings into clinical practice to promote personalized medicine</p>
<p><span style="text-decoration: underline;">Human developmental disorders</span>. We study the genetic basis of rare genetic disorders, notably disorders found in isolated populations and disorders of sex development, to indentify not only the mutational basis, but also the molecular mechanisms. We identified mutations in genes in the MAP kinase pathway in abnormal testicular development and have investigated the roles of members of this pathway in normal testicular development.&nbsp;</p>
<p><span style="text-decoration: underline;">Cancer genetics and genomics</span>.&nbsp; We have explored the roles of low and high-penetrance variants in risk of human cancers and have developed models for predicting risk.&nbsp; Through genome wide association studies, we have identified common variants that increase risk of adverse outcomes (erectile dysfunction, urinary dysfunction, proctitis) for men treated with radiation therapy for prostate cancer. We have developed a molecular signature based on acquired somatic copy number alterations that is highly predictive of risk of metastasis and may account for this increased risk among African-American men. A similar model is being developed for breast cancer. We have also developed flow variant assays as a novel method for identifying germline risks of cancer</p>

Research Areas
Human developmental disorders; cancer genomics, including cancer predisposition and metastatic risk; genetic variation in human populations
CHAM Provider
On
Professional Title
M.D.
Clinical Focus

Molecular Pathology, Molecular Genetics, Cytogenetics, Medical Genetics

Research Focus

Our laboratory uses modern genomics to better understand the role of human genetic variations in regards to disease progression and potential treatments. Our mission is to lay the groundwork for future development of therapies based on our research.

Selected Publications

<p>Syeda MM, Upadhyay K, Loke J, Pearlman A, Klugman S, Shao Y, Ostrer H.&nbsp;Prediction of breast cancer risk based on flow-variant analysis of circulating&nbsp;peripheral blood B cells. Genet Med. 2017 Sep;19(9):1071-1077. doi:10.1038/gim.2016.222. Epub 2017 Mar 16. PubMed PMID: 28301456.</p>
<p>diSibio G, Upadhyay K, Meyer P, Oddoux C, Ostrer H. Assessing risk for&nbsp;Mendelian disorders in a Bronx population. Mol Genet Genomic Med. 2017 Jul&nbsp;6;5(5):516-523. doi: 10.1002/mgg3.307. eCollection 2017 Sep. PubMed PMID: 28944235; PubMed Central PMCID: PMC5606885.</p>
<p>Upadhyay K, Loke J, O V, Taragin B, Ostrer H. Biallelic mutations in FLNB&nbsp;cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating &beta;-catenin.&nbsp;Clin Genet. 2018 Feb;93(2):412-416. doi: 10.1111/cge.13165. Epub 2017 Dec 26.&nbsp;PubMed PMID: 29095481.</p>
<p>Lee S, Kerns S, Ostrer H, Rosenstein B, Deasy JO, Oh JH. Machine Learning on a&nbsp;Genome-wide Association Study to Predict Late Genitourinary Toxicity After&nbsp;Prostate Radiation Therapy. Int J Radiat Oncol Biol Phys. 2018 May&nbsp;1;101(1):128-135. doi: 10.1016/j.ijrobp.2018.01.054. Epub 2018 Jan 31. PubMed&nbsp;PMID: 29502932; PubMed Central PMCID: PMC5886789.</p>
<p>Pearlman A, Upadhyay K, Cole K, Loke J, Sun K, Fineberg S, Freedland SJ, Shao Y, Ostrer H. Robust genomic copy number predictor of pan cancer metastasis. Genes&nbsp;Cancer. 2018 Jan;9(1-2):66-77. doi: 10.18632/genesandcancer.165. PubMed PMID:&nbsp;29725504; PubMed Central PMCID: PMC5931251.</p>
<p>Kerns SL, Chuang KH, Hall W, Werner Z, Chen Y, Ostrer H, West C, Rosenstein B.&nbsp;Radiation biology and oncology in the genomic era. Br J Radiol. 2018&nbsp;Nov;91(1091):20170949. doi: 10.1259/bjr.20170949. Epub 2018 Jun 14. Review.&nbsp;PubMed PMID: 29888979.</p>
<p>Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN,&nbsp;Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon&nbsp;A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P, Thompson IM Jr, Batra&nbsp;J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger G, Gronberg H,<br />Aly M, Nordstr&ouml;m T, Pharoah P, Pashayan N, Schleutker J, Tammela TLJ, Sipeky C,&nbsp;Auvinen A, Albanes D, Weinstein S, Wolk A, Hakansson N, West C, Dunning AM,&nbsp;Burnet N, Mucci L, Giovannucci E, Andriole G, Cussenot O, Cancel-Tassin G,&nbsp;Koutros S, Freeman LEB, Sorensen KD, Orntoft TF, Borre M, Maehle L, Grindedal EM,&nbsp;Neal DE, Donovan JL, Hamdy FC, Martin RM, Travis RC, Key TJ, Hamilton RJ,&nbsp;Fleshner NE, Finelli A, Ingles SA, Stern MC, Rosenstein B, Kerns S, Ostrer H, Lu YJ, Zhang HW, Feng N, Mao X, Guo X, Wang G, Sun Z, Giles GG, Southey MC, MacInnis&nbsp;RJ, FitzGerald LM, Kibel AS, Drake BF, Vega A, G&oacute;mez-Caama&ntilde;o A, Fachal L, Szulkin&nbsp;R, Eklund M, Kogevinas M, Llorca J, Casta&ntilde;o-Vinyals G, Penney KL, Stampfer M,&nbsp;Park JY, Sellers TA, Lin HY, Stanford JL, Cybulski C, Wokolorczyk D, Lubinski J, Ostrander EA, Geybels MS, Nordestgaard BG, Nielsen SF, Weisher M, Bisbjerg R,&nbsp;R&oslash;der MA, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M,&nbsp;Schnoeller T, Kim J, Logothetis CJ, John EM, Teixeira MR, Paulo P, Cardoso M,&nbsp;Neuhausen SL, Steele L, Ding YC, De Ruyck K, De Meerleer G, Ost P, Razack A, Lim J, Teo SH, Lin DW, Newcomb LF, Lessel D, Gamulin M, Kulis T, Kaneva R, Usmani N, Slavov C, Mitev V, Parliament M, Singhal S, Claessens F, Joniau S, Van den Broeck&nbsp;T, Larkin S, Townsend PA, Aukim-Hastie C, Gago-Dominguez M, Castelao JE, Martinez&nbsp;ME, Roobol MJ, Jenster G, van Schaik RHN, Menegaux F, Truong T, Koudou YA, Xu J, Khaw KT, Cannon-Albright L, Pandha H, Michael A, Kierzek A, Thibodeau SN,&nbsp;McDonnell SK, Schaid DJ, Lindstrom S, Turman C, Ma J, Hunter DJ, Riboli E, Siddiq&nbsp;A, Canzian F, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Kraft P;&nbsp;PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated&nbsp;Alterations in the Genome) Consortium, Freedman M, Wiklund F, Chanock S,&nbsp;Henderson BE, Easton DF, Haiman CA, Eeles RA, Conti DV, Kote-Jarai Z.&nbsp;Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis&nbsp;identifies candidate causal variants. Nat Commun. 2018 Jun 11;9(1):2256. doi:10.1038/s41467-018-04109-8. PubMed PMID: 9892050; PubMed Central PMCID:&nbsp;PMC5995836.</p>
<p>Fofanov VY, Upadhyay K, Pearlman A, Loke J, O V, Shao Y, Freedland S, Ostrer&nbsp;H. Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer&nbsp;Risks. J Mol Diagn. 2019 Jan;21(1):49-57. doi: 10.1016/j.jmoldx.2018.07.007. Epub&nbsp;2018 Dec 12. PubMed PMID: 30553750; PubMed Central PMCID: PMC6334266. Rutgers L, Ostrer H, Prowse T, Schroeder H. Diaspora, migration, and the sciences: a new integrated perspective. Eur J Hum Genet. 2018 Dec 19. doi:10.1038/s41431-018-0314-0. [Epub ahead of print] Review. PubMed PMID: 30568243.</p>
<p>Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, Ostrer H. Mutations in MAP3K1 that cause 46,XY disorders of sex development&nbsp;disrupt distinct structural domains in the protein. Hum Mol Genet. 2019 Jan 4.&nbsp;doi: 10.1093/hmg/ddz002. [Epub ahead of print] PubMed PMID: 30608580.</p>
<p>Pearlman A, Rahman MT, Upadhyay K, Loke J, Ostrer H. Ectopic Otoconin 90 expression in triple negative breast cancer cell lines is associated with metastasis functions. PLoS One. 2019 Feb 14;14(2):e0211737. doi:10.1371/journal.pone.0211737. eCollection 2019. PubMed PMID: 0763339; PubMed Central PMCID: PMC6375562.</p>
<p>Kerns SL, Fachal L, Dorling L, Barnett GC, Baran A, Peterson DR, Hollenberg M, Hao K, Narzo AD, Ahsen ME, Pandey G, Bentzen SM, Janelsins M, Elliott RM, Pharoah PDP, Burnet NG, Dearnaley DP, Gulliford SL, Hall E, Sydes MR, Aguado-Barrera ME, G&oacute;mez-Caama&ntilde;o A, Carballo AM, Peleteiro P, Lobato-Busto R, Stock R, Stone NN, Ostrer H, Usmani N, Singhal S, Tsuji H, Imai T, Saito S, Eeles R, DeRuyck K, Parliament M, Dunning AM, Vega A, Rosenstein BS, West CML. Radiogenomics Consortium Genome-Wide Association Study Meta-analysis of Late Toxicity after Prostate Cancer Radiotherapy. J Natl Cancer Inst. 2019 May 16. pii: djz075. doi: 10.1093/jnci/djz075. [Epub ahead of print] PubMed PMID: 1095341.</p>
<pre>&nbsp;</pre>

EMR ID
5515
Biography

<p>Harry Ostrer, MD, is Professor, Pathology, Genetics and Pediatrics at Montefiore Einstein. He is a medical geneticist who investigates the genetic basis of common and rare disorders.</p><p>After obtaining his Bachelor of Science from Massachusetts Institute of Technology in 1972, Dr. Ostrer earned his Doctor of Medicine from Columbia University in 1976. He then completed an internship in pediatrics at Johns Hopkins University School of Medicine in 1977 before becoming an assistant resident in pediatrics until 1978. Following this, Dr. Ostrer completed a neonatal and pediatrics clinical fellowship at the National Institutes of Health in 1981, followed by a postdoctoral fellowship in genetics in the department of pediatrics at Johns Hopkins in 1983.</p><p>In the diagnostic laboratory, Dr. Ostrer translates the findings of genetic discoveries into tests that can be used, either to identify people&rsquo;s risks for having a disease prior to its occurrence or for predicting its outcome once it has occurred. He studies the genetic basis of breast, colon and prostate cancer and adverse outcomes associated with their treatment, as well as the genetic basis for disorders of sex development and other rare conditions &mdash; he identified the role of the signal-transducing Mitogen-activated protein kinases (MAP) pathway in gonadal development.</p><p>Dr. Ostrer is board certified by the American Board of Medical Genetics and the American Board of Pediatrics. He is a member of the American Society of Human Genetics and founding fellow of the American College of Medical Genetics. Dr. Ostrer has received numerous awards for his work, such as the Henry W. Shotmeyer Award from the Skin Cancer Foundation and the Weizmann Institute of Science Award for Excellence.</p>

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Robert W. Marion

Submitted by Anonymous (not verified) on
Full Name
Robert W. Marion
Profile Image URL
https://assets.montefioreeinstein.org/profiles/images/physphoto/Marion_Robert_MD.jpg
Type
Provider
Faculty
First Name
Robert
Last Name
Marion
NPI
1770669616
Faculty ID
2588
CMO Specialties
Employment Status
Per Diem
Patient Type
Pediatric
Department
einstein-dept-pediatrics
einstein-dept-obstetrics-gynecology-womens-health
Gender
Male
Email
rmarion@montefiore.org
Phone
718-430-8521
Titles
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Distinguished University Professor Emeritus
Division
Pediatric Genetic Medicine
Type
Academic
Department
Department of Obstetrics & Gynecology and Women's Health
Department Link
Rank
Distinguished University Professor Emeritus
Division
Reproductive & Medical Genetics
Type
Clinical
Title
Professor, Pediatrics and Obstetrics and Gynecology and Women’s Health, and Ruth L. Gottesman Professor of Developmental Pediatrics, Albert Einstein College of Medicine
Locations
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84154 40.84612)
Address Line 1
1250 Waters place
City
Bronx
State
NY
Zip
10461-2720
Location Title
Montefiore at 1250 Waters Place
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.87885 40.88037)
Address Line 1
3415 Bainbridge Avenue
City
Bronx
State
NY
Zip
10467-2403
Location Title
The Children's Hospital at Montefiore
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8798833 40.8799447)
Building
Rosenthal Pavilion
Room
237
Address Line 1
Montefiore Medical Center
Address Line 3
111 East 210th Street
City
Bronx
State
NY
Zip
10467
Location Title
Montefiore Medical Center
Education and Trainings
Education Type Label
Medical Education
Education Institution
Albert Einstein College of Medicine
Education Type Label
Fellowship
Education Institution
Albert Einstein College of Medicine
Education Type Label
Residency
Education Institution
Albert Einstein College of Medicine
Professional Interests

<p>Dr. Marion&rsquo;s clinical and research interests include the natural history and genetic basis of multiple malformation syndromes, and recently, the genetic basis of autism spectrum disorders and inherited disorders of cardiac rhythm. &nbsp;The former chief of the Divisions of Genetic Medicine and Developmental Medicine and former director of genetics at Blythedale Children's Hospital, he was the founder of Montefiore&rsquo;s Williams Syndrome Center, the Montefiore/Einstein Center for Cardiogenetics, and the Center for Congenital Disorders. He has published extensively in the medical literature in these areas, and, in addition, is the author of seven books including The Intern Blues, The Boy Who Felt No Pain (winner of a Christopher Award), Learning to Play God and Genetics Round: A Doctor&rsquo;s Life in the Field that Revolutionized Medicine, which was published by Kaplan in October 2009.</p>
<p>His work as a clinician and medical educator has been widely recognized and he has been the recipient of numerous awards, including the Spirit of Achievement Award (presented by Einstein&rsquo;s National Women&rsquo;s Division), the Zella Bronfman Butler Change Agent Award (presented by the UJA/Federation of New York and the Butler Foundation), and Lifetime Teaching Awards from Einstein and Sarah Lawrence College.</p>

Research Areas
The natural history, genetic basis & medical management of multiple malformation syndromes including Williams & 22q11.2 Deletion Syndromes, neural tube defects & inherited cardiac disorders such as the Long QT Syndromes.
CHAM Provider
Off
Professional Title
M.D.
EMR ID
19573
Biography

<p>Dr.&nbsp; Marion is Executive Director of the Children&rsquo;s Evaluation and Rehabilitation Center and the University Center of Excellence in Developmental Disabilities at the Rose F. Kennedy Center. He is Chief of the Divisions of Genetics and of Development Medicine at T he Children&rsquo;s Hospital at Montefiore and Director of the Center for Congenital Disorders. &nbsp;</p><p>A faculty member at Einstein since 1984, </p><p>Dr. Marion&rsquo;s interests include the natural history and genetic basis of multiple malformation syndromes. At The Children&rsquo;s Hospital at Montefiore he has served as Medical Director of the Spina Bifida Center for 20 years, is the founder and Medical Director of the Williams Syndrome Center, and helped organize the Center for CardioG enetics, the Neurofibromatosis Center, and the Center for Excellence in Autism. He has published extensively in the medical literature in these areas and, in addition, is the author of seven books.</p><p>Dr. Marion is the recipient of Albert Einstein College of Medicine&rsquo;s Samuel Rosen Award for Excellence in Medical Student Teaching(selected by medical students) and the Alumni Association&rsquo;s Lifetime Service Award. He is also the winner of the Lewis Fraad Award for Residency Education and the Obrinsky Award for excellence in medical student teaching in the Department of Pediatrics. He also received the Zella Bronfman Butler Change Agent Awardby UJA-Federation of New York .</p>

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Paul A. Levy

Submitted by Anonymous (not verified) on
Full Name
Paul A. Levy
Profile Image URL
https://documentapi-fargate-documentbucket-15qi4tpdvnhlz.s3.amazonaws.com/218/e14d37b0-ab9e-11ed-b3ca-abfc451c1751.jpg
Type
Provider
Faculty
First Name
Paul
Last Name
Levy
NPI
1356429518
Faculty ID
3077
Employment Status
Full Time
Patient Type
Pediatric
Department
einstein-dept-pediatrics
einstein-dept-pathology
Gender
Male
Email
plevy@montefiore.org
Phone
718-741-2323
Titles
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Associate Professor
Division
Pediatric Genetic Medicine
Type
Academic
Department
Department of Pathology
Department Link
Rank
Associate Professor
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.87885 40.88037)
Address Line 1
3415 Bainbridge Avenue
City
Bronx
State
NY
Zip
10467-2403
Location Title
The Children's Hospital at Montefiore
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.80109 41.01639)
Address Line 1
141 South Central Avenue
City
Hartsdale
State
NY
Zip
10530
Location Title
Montefiore At 141 South Central Avenue
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84154 40.84612)
Address Line 1
1250 Waters place
City
Bronx
State
NY
Zip
10461-2720
Location Title
Montefiore at 1250 Waters Place
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8782381 40.8799784)
Address Line 1
Montefiore Medical Center
Address Line 3
3411 Wayne Avenue
City
Bronx
State
NY
Zip
10467
Location Title
Montefiore Medical Center
Education and Trainings
Education Type Label
Medical Education
Education Institution
Tulane University School of Medicine
Education Type Label
Fellowship
Education Institution
Montefiore Medical Center
Education Type Label
Fellowship
Education Institution
Tulane Medical Center Hospital
Education Type Label
Residency
Education Institution
Montefiore Medical Center
CHAM Provider
On
Professional Title
M.D.
EMR ID
3884
Biography

<p>Paul Levy, MD, is Director, Center for Inherited Metabolic Disorders and Director, Inherited Metabolic Disease Specialty Care Referral Center at the Children&rsquo;s Hospital at Montefiore Einstein. He is also Associate Professor, Pediatrics and Pathology at our Albert Einstein College of Medicine. Dr. Levy sees patients with complex medical issues that may have a genetic etiology. He has a special interest in inherited metabolic disorders, including phenylketonuria (PKU), lysosomal storage diseases and urea cycle disorders, and sees newborns referred by the New York State Newborn Screening Program with positive screens.
</p><p>After earning his Doctor of Medicine at Tulane University, Dr. Levy completed his residency in pediatrics at Montefiore Einstein. He then completed a fellowship in ambulatory pediatrics at the same institution. Following this, Dr. Levy completed a fellowship in clinical and biochemical genetics at Tulane University. </p><p>Dr. Levy is involved in a long-term follow-up study for children with disorders diagnosed by newborn screening. He also participates in a study looking into a novel way to look at newborn screening and follow-up testing to determine if some infants with positive newborn screens may have a late-onset disease such as Pompe, Krabbe, and mucopolysaccharidosis (MPS I). Dr. Levy is on an advisory panel for Krabbe disease that helps physicians interpret clinical data to help determine infants&rsquo; status and help with needed follow-up. He has been principal investigator and co-investigator on clinical trials and funded research projects, and his work has been published in numerous peer-reviewed journals, review articles, book chapters and meeting abstracts. Dr. Levy has also given several nationally invited presentations and has been a journal reviewer for <em>Pediatrics Journal of Pediatrics and Genetics in Medicine</em>. </p><p>Dr. Levy is a Diplomat of the National Board of Medical Examiners and is board certified by the American Board of Pediatrics and the American Board of Medical Genetics. He is a member of many professional organizations, including the American Academy of Pediatrics, the American Society of Human Genetics, Society for Inherited Metabolic Disorders and the American College of Medical Genetics and Genomics. In 2023, Dr. Levy received the &ldquo;Clinician Champion Award in Newborn Screening&rdquo; from the Association of Public Health Laboratories.
</p>

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Susan D. Klugman

Submitted by Anonymous (not verified) on
Full Name
Susan D. Klugman
Profile Image URL
https://assets.montefioreeinstein.org/profiles/images/physphoto/Klugman_Susan_MD_420x504.jpg
Type
Provider
Faculty
Expert
First Name
Susan
Last Name
Klugman
NPI
1649350117
Faculty ID
2154
Employment Status
Full Time
Patient Type
Pediatric
Department
einstein-dept-obstetrics-gynecology-womens-health
einstein-dept-pediatrics
Gender
Female
Email
sklugman@montefiore.org
Phone
718-405-8150
Titles
Type
Academic
Department
Department of Obstetrics & Gynecology and Women's Health
Department Link
Rank
Professor
Division
Reproductive & Medical Genetics
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Professor
Type
Clinical
Title
Director, Reproductive and Medical Genetics
Type
Clinical
Title
Program Director, Medical Genetics and Genomics at Montefiore Einstein
Type
Clinical
Title
Professor, Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine
Type
Clinical
Type
Administrative
Title
Director of Reproductive Genetics, Department of Obstetrics & Gynecology and Women's Health
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84475 40.84623)
Address Line 1
1695 Eastchester Road -suite 301
City
Bronx
State
NY
Zip
10461-2374
Location Title
Montefiore Medical Park at Eastchester
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.845166 40.8462736)
Room
301
Address Line 1
Montefiore Medical Park
Address Line 3
1695 Eastchester Road
City
Bronx
State
NY
Zip
10461
Location Title
Montefiore Medical Park
Education and Trainings
Education Type Label
Medical Education
Education Institution
New York University School of Medicine
Education Type Label
Fellowship
Education Institution
Montefiore Medical Center
Education Type Label
Residency
Education Institution
Albert Einstein College of Medicine
Research Areas
Prenatal Diagnosis
Non Invasive Prenatal Screening
Expanded Carrier Screening
Hereditary Cancer Syndromes
Jewish Genetics
Zika
Genetic Education
Specialties
Expert Tags
Areas of Expertise
Prenatal testing
Genetic causes for diseases
The BRCA gene
Osteoporosis
Expert Summary

<p>Dr. Klugman is a "medical detective" who works to identify the possible genetic risk factors for many inherited diseases. She encourages couples to consider genetic testing even before they get married so they can be as informed as possible when planning their families. Dr. Klugman’s clinical focus is on the evaluation of patients and families at risk for genetic disorders during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies. She also provides evaluations for patients at risk for hereditary cancer syndromes.

Dr. Klugman has appeared on ABC World News Tonight with Diane Sawyer and WABC-TV Ch. 7. She has also been profiled and quoted in numerous articles in the Westchester Journal News.</p>

CHAM Provider
On
Professional Title
M.D.
Clinical Focus

&nbsp;Dr. Klugman&rsquo;s clinical focus is on the evaluation of patients and families at risk for genetic disorders during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies. She also provides evaluations for patients at risk for hereditary cancer syndromes.

Research Focus

Dr. Klugman&rsquo;s research focuses on novel methods for prenatal screening, testing and diagnosis as well as the assessment of new modalities for diagnoses and treatment of hereditary cancer syndromes.

Selected Publications

<p>Syeda M, Upadhyay K, Loke J, <strong>Klugman S</strong>, Pearlman A, Shao Y, Ostrer H,<em> Prediction of breast&nbsp;<em>cancer risk based on flow variant analysis of circulating peripheral blood B cells,&nbsp;</em>Genetics in Medicine, March 16, 2017</em></p>
<p>Aung C, Greb A, Kalia I, Bajaj K, <strong>Klugman S</strong>, <em>Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions</em>, Journal of Genetic Counseling, December 9, 2016</p>
<p>Wiesman C, Rose E, Grant A, Zimlover A, <strong>Klugman S</strong>, Schreiber-Agus N, <em>Experiences from a pilot program bringing BRCA1/2 genetic screening to the U.S. Ashkenazi Jewish population - The BRCAcommunity Initiative: Results and Reflections from Year 1, </em>Genetics in Medicine, October 2016</p>
<p>Gregg A, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, <strong>Klugman S</strong>, Watson MS, <em>Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics</em>, Genetics in Medicine, October 18 2016</p>
<p>Shani H, Goldwaser T, Keating J, <strong>Klugman S, </strong><em>Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center,</em> American Journal of Obstetrics and Gynecology, Jun 2016; 214(6):729.e1-729.</p>
<p>Rose E, Schreiber-Agus N, Bajaj K, <strong>Klugman S</strong>, Goldwaser T. <a href="http://www.ncbi.nlm.nih.gov/pubmed/26354339"><em>Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.</em></a> Journal of Genetic Counseling. 2016 Feb;25(1):18-24.</p>
<p>Wiesman C, Rose E, <strong>Klugman S</strong>, Schreiber-Agus N. <a href="http://www.ncbi.nlm.nih.gov/pubmed/26611540"><em>From Campers to Counselors: a Resource for Prospective Genetic Counseling Students.</em></a>Journal of Genetic Counseling. 2015 Nov 27</p>
<p>Ferraira, JC, Shreiber-Agus N, Carter SM, <strong>Klugman S,</strong> Grieg AR, Gross SJ <em>Carrier&nbsp;<em>testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze</em>, American Journal of Obstetrics &amp; Gynecology, 2014 Sept (3) 194-204.</em></p>
<p><strong>Klugman S</strong>, Dolan SM. <em>Expanded genetic testing in assisted reproductive technology: lessons learned from prenatal testing</em>. Virtual Mentor 2014 Jan 1;(16)1: 38-42</p>
<p><strong>Klugman S, </strong>Suskin,B, Spencer B, Dar P, Bajaj K, Powers, J, Reichling J, Wasserman D,&nbsp;Dolan S, Merkatz I.&nbsp;<em>Clinical Utility of Chromosomal Microarray Analysis in Prenatal&nbsp;<em>Diagnosis: Report of First 6 Months in Clinical Practice&nbsp;</em>The Journal of Maternal-Fetal and&nbsp;Neonatal Medicine 2013 Nov 26</em></p>
<p><strong>Klugman S,</strong> Schreiber-Agus N, Nazareth S<strong>, </strong>Evans, E<em>Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping vs Gene by Gene </em>Genetic Testing and Molecular Biomarkers 2013 Oct;17(10):763-7</p>
<p>Guti&eacute;rrez JF, Bajaj K,&nbsp;<strong>Klugman</strong><strong>&nbsp;</strong><strong>SD</strong>. <em>Prenatal screening for fragile x: carriers, controversies, and counseling. </em>Reviews in Obstetrics and Gynecology 2013;6(1):e1-7</p>
<p class="desc"><a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Rinella%20ES%5BAuthor%5D&amp;ca… ES</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Shao%20Y%5BAuthor%5D&amp;cautho… Y</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Yackowski%20L%5BAuthor%5D&amp;c… L</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Pramanik%20S%5BAuthor%5D&amp;ca… S</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Oratz%20R%5BAuthor%5D&amp;cauth… R</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Schnabel%20F%5BAuthor%5D&amp;ca… F</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Guha%20S%5BAuthor%5D&amp;cautho… S</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=LeDuc%20C%5BAuthor%5D&amp;cauth… C</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Campbell%20CL%5BAuthor%5D&amp;c… CL</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Klugman%20SD%5BAuthor%5D&amp;ca…; <strong>SD</strong></a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Terry%20MB%5BAuthor%5D&amp;caut… MB</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Senie%20RT%5BAuthor%5D&amp;caut… RT</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Andrulis%20IL%5BAuthor%5D&amp;c… IL</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Daly%20M%5BAuthor%5D&amp;cautho… M</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=John%20EM%5BAuthor%5D&amp;cauth… EM</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Roses%20D%5BAuthor%5D&amp;cauth… D</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Chung%20WK%5BAuthor%5D&amp;caut… WK</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Ostrer%20H%5BAuthor%5D&amp;caut… H</a>. <em>Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation</em> Hum Genet 2013 May 132(5) 523-26.</p>
<p class="desc">Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, <strong>Klugman S</strong>, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. <em>Chromosomal microarray versus karyotyping for prenatal diagnosis. </em>New England Journal of Medicine 2012 Dec &nbsp;&nbsp;&nbsp;6:367(23) 2175-8</p>
<p>Robin,NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L, Byers P, Ellison J,&nbsp;Feldman J, Gross S,&nbsp;<strong>Klugman S</strong>, Adam A, Keppler-Noreuil K, Hopkin R, McCandless S,&nbsp;Sharer D, Wiesner G, Pyeritz R, Westerman J&nbsp;&nbsp;&nbsp;&nbsp;<em>The development and implementation of an&nbsp;<em>In-service exam for medical genetics residency programs.&nbsp;</em>Genetics in Medicine 2012 May 14&nbsp;(5):552-7</em></p>
<p>Yachelevich N, Gittler JK, <strong>Klugman S</strong>, Feldman B, Martin J, Brooks&nbsp; SS, Dobkin C, Nolin SL. <em>Terminal deletions&nbsp; of the long arm of chromosome X that include the FMR1 gene in female patients: A case series.</em> American Journal of Medical Genetics A. 2011 Apr;155(4):870-4.</p>
<p class="desc">Gross, SJ, Bajaj K, Garry D, <strong>Klugman S</strong>, Karpel BM, Roe AM Wagner BJ, Zhan J, Apfelroth SD, Schreiber-Agus N: <em>Rapid and novel prenatal molecular assay for detecting aneuploides and microdeletion syndromes</em>. Prenatal Diagnosis 2011 31(3):259-66</p>
<p class="desc">Ram, KT, <strong>Klugman, SD</strong>: <em>Best practices: antenatal screening for Common genetic conditions other than aneuploidy</em>. Current Opinions in Obstetrics and Gynecology 2010 22(2):139-45&nbsp;</p>
<p class="desc"><strong>Klugman, S,</strong> Gross, SJ: Ashkenazi Jewish screening in the twenty-first century. Obstetric and Gynecologic Clinics of North America 2010 37(1): 37-46&nbsp;&nbsp;</p>
<p class="desc">Rybak, EA, Beviliacqua, K, Veit, CR, <strong>Klugman, SD</strong>, Santoro N: <em>Sibling and self ovum donation for sisters with an intermediate FMR1 mutation: what's a program to do. </em>Fertility and Sterility 2009 92(1): 394</p>
<p class="desc"><strong>Klugman, S</strong>, Gross SJ, Khabele D, Liang, J, Lopez-Jones, M, Gross, B, Cordero, DR, Reznik, S: <em>Expression of Keratin 8 and TNF-Related Apoptosis-I Inducing Ligand (TRAIL) in Down Syndrome Placentas</em>. Placenta 2008 29(4):382-4</p>
<p class="desc">Breathnach FM, Malone FD, Lambert-Messerlian G, Cuckle HS, Porter TF, Nyberg DA, Comstock CH, Saade GR, Berkowitz RL, <strong>Klugman S</strong>, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, TrippT, Bianchi DW, D&rsquo;Alton ME; <em>First and second Trimester screening detection of aneuploides other than Down Syndrome.</em>&nbsp; Obstetrics and Gynecology 2007 110(3):651-7</p>
<p class="desc">Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, KharbutliY, Porter TF, Luthy DA, Comstock CH, Saade GR, <strong>Klugman S</strong>, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR Wolfe HM, D&rsquo;Alton ME. <em>Pregnancy loss rates after midtrimester Amniocentesis. </em>Obstetrics and Gynecology. 2006 108:1067-72</p>
<p>Lambert-Messerlian, G., Dugoff, L., Vidaver, J., Canick, J.A., Malone, F.D., Ball, R.H., Comstock, C.H., Nyberg, D.A., Saade, G., Eddleman, K., <strong>Klugman, S</strong>., Craigo, S.D., Timor-Tritsch, I.E., Carr, S.R., Wolfe, H.M. &amp; D&rsquo;Alton, M.E. (2006). <em>First- and second-trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): A FASTER trial study.</em>&nbsp; Prenatal Diagnosis, 26(8):672-8.</p>
<p class="desc"><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&amp;cmd=Retriev… DR, Goldberg Y, Basel D, Kilpatrick MW, <strong>Klugman S</strong>, Tsipouras P, Gross S.</a><em>Prenatal sonographic diagnosis of Grebe syndrome.</em> Journal of Ultrasound in Medicine. 2006 (1):115-8</p>
<p>Cleary-Goldman J, Malone FD, Vidaver J, Ball RH, Nyberg DA, Comstock CH, Saade GR, Edelmann KA, <strong>Klugman S</strong>, Timor-Tritsch IE, Craigo SD, Carr SR, Wolfe HM, Bianchi DW, D&rsquo;Alton M<em> Faster Consortium, &ldquo;Impact of maternal age on obstetric outcome.&rdquo; </em>Obstetrics and Gynecology 2005 Vol. 105(5 Pt 1):983-90</p>

EMR ID
3754
Biography

<p>Susan Klugman, MD, FACOG, FACMG, is Director, Reproductive and Medical Genetics, Program Director, Medical Genetics and Genomics Residency and Professor, Obstetrics &amp; Gynecology and Women&rsquo;s Health and Pediatrics at Montefiore Einstein. Her clinical focus is on the evaluation of patients and families at risk for genetic disorders including those patients at risk for hereditary cancer syndromes. She also provides evaluations during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies.</p><p>After completing her Bachelor of Science at Cornell University in 1984, Dr. Klugman attended New York University School of Medicine, earning her Doctor of Medicine in 1988. She pursued her postdoctoral training at Montefiore Einstein and Jacobi Medical Center, completing her obstetrics and gynecology residency in 1992 and serving as administrative chief resident in her final year. In 2002, she continued her medical training at Montefiore Einstein in medical genetics, completing the program in 2004.</p><p>Dr. Klugman&rsquo;s research focuses on novel methods for prenatal screening, testing and diagnosis as well as the assessment of new modalities for the diagnosis and treatment of hereditary cancer syndromes. Her work has been published in peer-reviewed journals, book chapters and other print publications. She was the Reproductive Genetics Editor for <em>Genetics in Medicine</em> and has been a reviewer for journals such as the <em>American Journal of Medical Genetics, Obstetrics and Gynecology and Prenatal Diagnosis</em>. Dr. Klugman has spoken extensively at regional and national medical conferences, including more than 70 international and national invited presentations.</p><p>Dr. Klugman has served on the board of the American College of Medical Genetics since 2015 and will be President from 2023 to 2025. She has completed six-year terms on both the Committee on Genetics of the American Board of Obstetrics and Gynecology and the Residency Review Committee for Medical Genetics for the Accreditation Council of Graduate Medical Education. She is board certified in both obstetrics and gynecology and medical genetics and is listed in several medical directories including <em>Who&rsquo;s Who in Medical Sciences Education</em>, <em>Who&rsquo;s Who in Academic Medicine</em>, <em>New York Magazine</em> Best Doctors list, and Castle Connelly <em>How to Find the Best Metro Area Doctors</em>.</p>

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John M. Greally

Submitted by Anonymous (not verified) on
Full Name
John M. Greally
Profile Image URL
https://documentapi-fargate-documentbucket-15qi4tpdvnhlz.s3.amazonaws.com/218/d8c72530-90df-11ed-be5b-bb7c0572b280.jpg
Type
Provider
Faculty
Expert
First Name
John
Last Name
Greally
NPI
1821227646
Faculty ID
4156
CMO Specialties
Employment Status
Per Diem
Patient Type
Pediatric
Department
einstein-dept-genetics
einstein-dept-pediatrics
Languages
French
Gender
Male
Email
john.greally@einsteinmed.edu
Phone
718-678-1234
Titles
Type
Academic
Department
Department of Genetics
Department Link
Rank
Professor
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Professor
Division
Pediatric Genetic Medicine
Type
Clinical
Title
Director, Center for Epigenomics
Tags
me-patientcare-cancer-research-stem-cell-cancer-biology
Type
Clinical
Title
Attending physician
Type
Clinical
Title
Executive Director, New York Center for Rare Diseases
Tags
me-patientcare-rarediseases
Type
Clinical
Title
Professor and Chief Division of Genomics Department of Genetics
Type
Administrative
Title
Chief, Division of Genomics, Department of Genetics
Type
Administrative
Title
Director, Center for Epigenomics
Type
Administrative
Type
Administrative
Title
Faculty Advisor, Computational Genomics Core, Department of Genetics
Type
Administrative
Title
Faculty Advisor, Epigenetics Shared Facility, Department of Genetics
Type
Administrative
Title
The Gottesman Faculty Scholar for Epigenomics
Locations
Is Primary
Off
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84154 40.84612)
Address Line 1
1250 Waters place
City
Bronx
State
NY
Zip
10461-2720
Location Title
Montefiore at 1250 Waters Place
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.87885 40.88037)
Address Line 1
3415 Bainbridge Avenue
City
Bronx
State
NY
Zip
10467-2403
Location Title
The Children's Hospital at Montefiore
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.845838 40.8516937)
Room
322
Address Line 1
Albert Einstein College of Medicine
Address Line 2
Michael F. Price Center
Address Line 3
1301 Morris Park Avenue
City
Bronx
State
NY
Zip
10461
Location Title
Albert Einstein College of Medicine
Education and Trainings
Education Type Label
Medical Education
Education Institution
National University of Ireland
Education Type Label
Fellowship
Education Institution
Yale University
Education Type Label
Residency
Education Institution
Childrens Hospital of Pittsburgh / UPMC Health Sys
Professional Interests

<p>Our research is based on understanding models of genetic susceptibility to human disease, especially those affecting children.</p>
<p>We focus on understanding phenotypes, through genetic or environmental influences that change the innate properties of a canonical cell type, or how those influences alter cell lineage choices during differentiation.</p>
<p>Our studies are facilitated by Einstein's Center for Epigenomics, its Epigenomics Shared Facility and the Computational Epigenomics Group.</p>
<p>Our basic research involves the study of the effects of environmental and genetic influences on stem cell differentiation, with a focus on liver and blood diseases.</p>
<p>Our lab is focusing on stem cell systems to understand mechanisms of cellular memory, and to reveal the functional variants in the non-coding majority of the human genome.</p>
<p>Our clinical research program is centered on the New York Center for Rare Diseases, where we contribute to advanced diagnostics through long-read sequencing and advanced phenotyping and analytical tools.</p>

Research Areas
Medical genomics: the delivery of genomic information to enhance the health of the Bronx population.Transcriptional regulation/epigenetics: understanding how the regulation of the genome is influenced by genetic and environmental variation.
Expert Tags
Areas of Expertise
Computational biology
DNA methylation
Expert Summary

<p class="MsoNormal" style="line-height: 15.6pt;"><span style="font-size: 9.0pt;">Dr. Greally began his career as a pediatrician who subspecialized in clinical genetics, seeing patients with genetic syndromes, birth defects and developmental problems. Now, Dr. Greally seeks to understand how genetic disease is caused not by DNA mutations, but due to abnormalities in how genes are switched off and on &ndash; a field known as epigenomics.&nbsp;</span></p>
<p class="MsoNormal" style="line-height: 15.6pt;"><span style="font-size: 9.0pt;">Dr. Greally&rsquo;s research focuses on epigenetic abnormalities in human diseases such as breast cancer, type 2 diabetes, viral hepatitis, and allergies and on epigenetic regulation of stem cell differentiation. He also serves on the editorial board of the journal<span>&nbsp;</span><em>Epigenetics &amp; Chromatin</em>.&nbsp;</span></p>

CHAM Provider
Off
Professional Title
D.Med.
M.B.,B.Ch.,B.A.O.
Ph.D.
PubMed.gov URL
Selected Publications

<p>Rosean S, Sosa EA, O'Shea D, Raj SM, Seoighe C, <strong>Greally JM</strong>. Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization. <strong><em>BMC Bioinformatics</em></strong>. 2024 May 7;25(1):179. doi: 10.1186/s12859-024-05794-7. PMID: 38714913; PMCID: PMC11075237.</p>
<p>Pearson NM, Stolte C, Shi K, Beren F, Abul-Husn NS, Bertier G, Brown K, Diaz GA, Odgis JA, Suckiel SA, Horowitz CR, Wasserstein M, Gelb BD, Kenny EE, Gagnon C, Jobanputra V, Bloom T, Greally JM. GenomeDiver: a platform for phenotype-guided medical genomic diagnosis. Genet Med. 2021 Oct;23(10):1998-2002. doi: 10.1038/s41436-021-01219-5. Epub 2021 Jun 10. PMID: 34113009; PMCID: PMC8488006.</p>
<p>Johnston AD, Simões-Pires CA, Thompson TV, Suzuki M, Greally JM. Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding. Nat Commun. 2019 Aug 2;10(1):3472. doi: 10.1038/s41467-019-11412-5. PMID: 31375681; PMCID: PMC6677801.</p>
<p>Sato H, Wu B, Delahaye F, Singer RH, Greally JM. Retargeting of macroH2A following mitosis to cytogenetic-scale heterochromatic domains. J Cell Biol. 2019 Jun 3;218(6):1810-1823. doi: 10.1083/jcb.201811109. Epub 2019 May 20. PMID: 31110057; PMCID: PMC6548134.</p>
<p>Kong Y, Berko ER, Marcketta A, Maqbool SB, Simões-Pires CA, Kronn DF, Ye KQ, Suzuki M, Auton A, Greally JM. Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq. Genome Res. 2018 Jul;28(7):1039-1052. doi: 10.1101/gr.226282.117. Epub 2018 May 17. PMID: 29773658; PMCID: PMC6028128.</p>
<p>Lappalainen T, Greally JM. Associating cellular epigenetic models with human phenotypes. Nat Rev Genet. 2017 Jul;18(7):441-451. doi: 10.1038/nrg.2017.32. Epub 2017 May 30. PMID: 28555657. </p>

EMR ID
5249
Biography

<p>John M. Greally, DMed, PhD, MB, BCh, BAO, is Chief of the Division of Genomics in the Department of Genetics, Director of the Center for Epigenomics and Professor of Genetics and Pediatrics at Montefiore Einstein. Dr. Greally is a specialist in clinical genetics, with an emphasis on rare diseases and congenital conditions. He has expertise in medical genomics, the use of advanced genomic technologies to diagnose genetic conditions.</p><p>Dr. Greally obtained his Bachelor&rsquo;s degree in Medicine, Surgery and Obstetrics in 1988 from the National University of Ireland in Galway, Ireland. He received his Doctorate of Philosophy in 1999 and his Doctorate of Medicine in 2016 from the same institution.</p><p>Building on his clinical focus, Dr. Greally runs a research program that uses genomic technologies, advanced data analysis techniques and stem cell systems to understand the mechanisms of human genetic diseases, with a focus on rare DNA sequence variants in the non-coding majority of the human genome. He is focused on improving our ability to diagnose rare diseases and on the equitable provision of genomics services to populations of all ancestries. He has also initiated a startup business, Latent Genomics, to allow the effective use of medical genomics in clinical care.</p><p>Dr. Greally holds a United States Patent titled <em>Methods for determining cytosine methylation in DNA and uses thereof</em>. His work has been published in numerous peer-reviewed journals, chapters and books, and he has presented nationally and internationally. He sits on the editorial board of <em>Epigenetics and Chromatin</em> (BioMed Central) and is a section editor for Epigenetics at <em>PLOS Genetics</em>.</p><p>Dr. Greally is board certified in pediatrics by the American Board of Pediatrics and in clinical genetics and genomics by the American Board of Medical Genetics. He is a member of the American Society of Human Genetics and a fellow of the American College of Medical Genetics and Genomics. Dr. Greally has been appointed president of the New York Celtic Medical Society from 2021 to 2023, and in 2014 he won Mentor of the Year in Basic Science from Montefiore Einstein.</p>

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Pe'er Dar

Submitted by Anonymous (not verified) on
Full Name
Pe'er Dar
Profile Image URL
https://assets.montefioreeinstein.org/profiles/images/physphoto/Peer_Dar_MD_420x504.jpg
Type
Provider
Faculty
Expert
First Name
Pe'er
Last Name
Dar
NPI
1801976386
Faculty ID
10177
Clinical Terms
Employment Status
Full Time
Patient Type
Pediatric
Department
einstein-dept-obstetrics-gynecology-womens-health
Gender
Male
Email
pdar@montefiore.org
Phone
718-405-8218
Titles
Type
Academic
Department
Department of Obstetrics & Gynecology and Women's Health
Department Link
Rank
Professor
Division
Fetal Medicine & Ultrasound
Type
Administrative
Title
Director, Ultrasound & Fetal Medicine, Department of Obstetrics & Gynecology and Women's Health
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.84475 40.84623)
Address Line 1
1695 Eastchester Road
City
Bronx
State
NY
Zip
10461
Location Title
Montefiore Medical Park at Eastchester
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.845166 40.8462736)
Room
L4
Address Line 1
Montefiore Medical Park
Address Line 3
1695 Eastchester Road
City
Bronx
State
NY
Zip
10461
Location Title
Montefiore Medical Park
Education and Trainings
Education Type Label
Medical Education
Education Institution
Sackler School of Medicine, New York
Education Type Label
Fellowship
Education Institution
Montefiore Medical Center
Education Type Label
Residency
Education Institution
Assaf Harofeh Hospital
Education Type Label
Residency
Education Institution
Albert Einstein College of Medicine
Professional Interests

<p>Dr Dar is the director of the division of fetal medicine at Montefiore Medical Center.&nbsp;He&nbsp;was trained in obstetrics and&nbsp;gynecology and&nbsp;high risk pregnancy in Israel and&nbsp;completed&nbsp;further training in obstetrics and gynecology and clinical genetics in the USA. In addition, Dr Dar&nbsp;completed training in fetal surgery in Europe.</p>
<p>Dr Dar is specialized in:</p>
<p>1.&nbsp;Prenatal diagnosis: Prenetal&nbsp;screening including First trimester screening for Down syndrome; Detailed fetal anatomy scans in early and&nbsp;late second trimester (including early transvaginal scans); Fetal echocardiography;&nbsp;Neurosonography; CVS; amniocentesis; cordocentesis and placental biopsies.</p>
<p>2. In Utero procedures and surgery: Fetoscopic laser ablation for twin to twin transfusion syndrome (TTTS), RFA for TRAP syndrome,&nbsp;EXIT procedures, Selective fetal reductions, fetal blood transfusions,&nbsp;in-utero placement of vesico-amniotic shunts and thoracoamniotic shunts;&nbsp;</p>

Areas of Expertise
Fetal Medicine
Ultrasound
Prenatal screening
High-risk pregnancy
Expert Summary

<p>Dr. Dar was trained in obstetrics and gynecology and high risk pregnancy in Israel and completed further training in obstetrics and gynecology and clinical genetics in the U.S. In addition, Dr. Dar completed training in fetal surgery in Europe. Dr. Dar specializes in prenatal screening, including first trimester screening for Down syndrome; Detailed fetal anatomy scans in early and late second trimester (including early transvaginal scans); Fetal echocardiography; Neurosonography; CVS; amniocentesis; cordocentesis and placental biopsies. He also performs in utero procedures and surgery, which includes Fetoscopic laser ablation for twin to twin transfusion syndrome (TTTS), RFA for TRAP syndrome, EXIT procedures, Selective fetal reductions, fetal blood transfusions, in-utero placement of vesico-amniotic shunts and thoracoamniotic shunts.</p>

CHAM Provider
On
Professional Title
M.D.
Clinical Focus

<table><tbody><tr><td><span style="font-family:'Arial',sans-serif;color:#373A3C;">Prenatal diagnosis by ultrasound of placental and fetal abnormalities</span><br /><span style="font-family:'Arial',sans-serif;color:#373A3C;">Prenatal genetic diagnosis of fetal disorders</span><br /><span style="font-family:'Arial',sans-serif;color:#373A3C;">Management of pregnancies complicated by all fetal abnormalities</span><br /><span style="font-family:'Arial',sans-serif;color:#373A3C;">Management of complicated twin and other multiple pregnancies </span><br /><span style="font-family:'Arial',sans-serif;color:#373A3C;">Fetal therapy</span><br /><span style="font-family:'Arial',sans-serif;color:#373A3C;">Fetal surgery including fetsocopic surgery for TTTS </span> </td></tr></tbody></table>

Research Focus

<p style="line-height:150%;">Fetal medicine and surgery</p><p style="line-height:150%;">Non-invasive prenatal screening (cell free DNA)</p><p style="line-height:150%;">Scar pregnancies and placenta accreta spectrum (PAS)</p><p style="line-height:150%;">Ultrasound in obstetrics and gynecology</p>

Selected Publications

<p style="text-align: left; padding-left: 30px;">1. Mazor M, <strong>Zitzer P</strong>, Chaim W, Maymon E, Kuperman O<em>. C-reactive protein as a marker of infection in women with preterm delivery.</em> Harefuah.[Hebrew] 1993:1;124(3); 132-137.</p>
<p style="text-align: left; padding-left: 30px;">2. Maymon R, <strong>Zitzer P</strong>, Manor Y, Bukovsky I, Moroz C<em>. Placental isoferitin patterns&nbsp; during normal first trimester and tubal gestations</em>. Hum Reprod. 1995:10(9); 2445-2447.</p>
<p style="text-align: left; padding-left: 30px;">3. Langer R, Pansky M,<strong> Zitzer P</strong>, Bukovsky I, Golan A<em>. National Urogynecologic Survey</em>. Isr J Obstet Gynecol. 1996 :7;145-149.</p>
<p style="text-align: left; padding-left: 30px;">4. <strong>Zitzer P</strong>, Panski M, Maymon R, Langer R, Bukovski I, Golan A. <em>Pelvic splenosis as a cause of low abdominal pain- Laparoscopic management</em>. Human Reprod. 1998 :13(6);101-103.</p>
<p style="text-align: left; padding-left: 30px;">5. Arieli S, <strong>Zitzer P</strong>, Bukovsky I, Maymon R<em>. Metabolic alkalosis at term pregnancy causing fetal deterioration and distress. </em>Isr J Obstet Gynecol 1999: 10; 61-63</p>
<p style="text-align: left; padding-left: 30px;">6. <strong>Dar P</strong>, Weiner I, Sofrin O, Sachs GS, Bukovsky I, Arieli S. <em>Clinical and sonographic fetal weight estimations in active labor with ruptured membranes</em>. J Reprod Med. 2000:45(5); 390-394.</p>
<p style="text-align: left; padding-left: 30px;">7. &nbsp;<strong>Dar P,</strong> Gross SJ. <em>Craniofacial and neck anomalies</em>. Clin Perinatol 2000;27(4);813-837</p>
<p style="text-align: left; padding-left: 30px;">8. <strong>Dar P</strong>, Gross SJ. <em>Macrosomia-a genetic perspective</em>. Clin Obstet Gynecol. 2000:43(2); 298-308.</p>
<p style="text-align: left; padding-left: 30px;">9. <strong>Dar P</strong>, Sachs GS, Strassburger D, Bukovsky I, Arieli S. <em>Ovarian function before and after salpingectomy in artificial reproductive technology patients</em>. Hum Reprod. 2000:15(1);142-144</p>
<p style="text-align: left; padding-left: 30px;">10. <strong>Dar P,</strong> Sachs SG, Carter SM, Ferreira JC, Nitowsky HM, Gross SJ. <em>Prenatal diagnosis of Bardet-Biedl syndrome by targeted second trimester sonography. </em>Ultrasound Obstet Gynecol 2001 Apr;17(4):354-6</p>
<p style="text-align: left; padding-left: 30px;">11. Sherer DM, <strong>Dar P</strong>. <em>Prenatal ultrasonographic diagnosis of congenital umbilical hernia and associated patent omphalomesenteric duct</em>. Gynecol Obstet Invest. 2001:51(1); 66-68</p>
<p style="text-align: left; padding-left: 30px;">12<em>.</em><strong> Dar P</strong>, Strassburger D, Shaish A, Levkovitz H, Halperin R, Harats R<em>.</em><em> Reduced reproduction with increased abortion rate in transgenic mice that overexpress 15-Lipoxygenase.</em>Gynecol Obstet Invest. 2001;52(1):18-21.</p>
<p style="text-align: left; padding-left: 30px;">13. <strong>Dar P</strong>, Javed AA, Ben-Yishay M, Ferreira JC, Paterson AD, Gross SJ, Chitayat D, Morrow BE, Nitowsky HM. <em>Potential Mapping of Corneal Dermoids to Xq24-qter</em>. J Med Genetics. 2001;38(10):719-23</p>
<p style="text-align: left; padding-left: 30px;">14. Halperin R, Zehavi S, <strong>Dar P</strong>, Habler L, Hadas E, Bukovsky I, Schneider D<em>. Clinical and molecular comparison between borderline serous ovarian tumors and advanced serous papillary ovarian carcinomas</em>. Eur J Gynaecol Oncol. 2001;22(4):292-6.</p>
<p style="text-align: left; padding-left: 30px;">15. Gross SJ, Ferreira JC, Morrow BE, <strong>Dar P,</strong> Funke B, Khabele D, Merkatz I. Gene expression profile of trisomy-21 placentas &ndash; a potential approach for designing non-invasive techniques of prenatal diagnosis. Am J Obstet Gynecol. 2002. 187(2):457-62</p>
<p style="text-align: left; padding-left: 30px;">16. Vaknin Z, Halperin R, Schneider D, Teitler J, <strong>Dar P</strong>, Herman A, Herman A, Berkovitch M. <em>Hyperemesis gravidarum and nonspecific abnormal EEG findings: a preliminary </em>report. J Reprod Med. 2006 ;51(8):623-7.</p>
<p style="text-align: left; padding-left: 30px;">17. Canick JA, Lambert-Messerlian GM, Palomaki GE, Neveux LM, Malone FD, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Saade GR, Berkowitz RL, <strong>Dar P</strong>, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D'Alton ME. First and Second Trimester Evaluation of Risk (FASTER) Trial Research Consortium. <em>Comparison of Serum Markers in First-Trimester Down Syndrome Screening.</em> Obstet Gynecol. 2006 ;108(5):1192-1199.</p>
<p style="text-align: left; padding-left: 30px;">18. Dugoff L, Cuckle HS, Hobbins JC,&nbsp; Malone FD, Belfort MA, Nyberg DA,&nbsp; Comstock CH,&nbsp; Saade GR, Eddelman KA, <strong>Dar P,</strong>&nbsp; Craigo AD,&nbsp; Timor Tritsch IE, Carr SR, Wolfe HM, D&rsquo;alton ME <sup>&nbsp;</sup>for the FASTER Trial Research Consortium. <em>Prediction of patient-specific risk for fetal loss using maternal characteristics and first and second trimester maternal serum Down syndrome markers.</em>&nbsp; Am J Obstet Gynecol. 2008 Sep;199(3):290.e1-6.</p>
<p style="text-align: left; padding-left: 30px;">19. <strong>Dar P,</strong> Karmin I, Einstein MH. <em>Arteriovenous Malformations of the Uterus: Long-Term Follow-Up.</em> Gynecol Obstet Invest. 2008 11;66(3):157-161</p>
<p style="text-align: left; padding-left: 30px;">20. Rotenberg, O., Shahabi, S., Dar, P. <em>Testosterone secreting mature ovarian teratoma causing virilization in an adolescent - Sonographic and color Doppler characteristics.</em> J Ultrasound Med. 2009 ;28(1):85-8</p>
<p style="text-align: left; padding-left: 30px;">21. D&rsquo;Alton ME, Cleary-Goldman J,&nbsp; Lambert-Messerlian G, Ball RH,&nbsp; Nyberg DA,&nbsp; Comstock CH,&nbsp; Bukowski R, Berkowitz RL,&nbsp; <strong>Dar P</strong>, Dugoff L, Craigo SD, Timor IE, Carr SR, Wolfe HM, Dukes K,&nbsp; Canick JA, Malone FD. <em>Maintaining quality assurance for nuchal translucency sonography: Lessons from the FASTER trial</em>.&nbsp; Ultrasound Obstet Gynecol. 2009 27;33(2):142-146</p>
<p style="text-align: left; padding-left: 30px;">22. Gebb J, <strong>Dar P</strong>. <em>Should the First Trimester Aneuploidy Screen be Maternal Age Adjusted? Screening by Absolute Risk vs. Risk Adjusted to Maternal Age.</em> Prenatal Diagnosis. 2009; 29 (3) 245-247</p>
<p style="text-align: left; padding-left: 30px;">23. Terry S., Banks E., Harris K., Duvivier R., <strong>Dar P</strong>. <em>Comparison of 3-dimensional to 2-dimensional Saline Infusion Sonohysterograms for the Evaluation of Intrauterine Abnormalities.</em> J Clinic Ultrasound. 2009 ;37(5):258-62.</p>
<p style="text-align: left; padding-left: 30px;">24. <strong>Dar P</strong>, Rosenthal J,Factor S, DubiossoR, Murthy AS <em>First trimester diagnosis of fetal epignathus with two and three-dimensional ultrasonography</em><strong>. </strong>J Ultrasound Med. 2009 Dec;28(12):1743-6</p>
<p style="text-align: left; padding-left: 30px;">25.&nbsp; Ram K, Goffman D, Ilagan J, <strong>Dar P</strong>. <em>First trimester diagnosis of familial split-hand split-foot malformation (SHFM)</em>. J Ultrasound Med. 2009 ;28(10):1397-400.</p>
<p style="text-align: left; padding-left: 30px;">26. <strong>Dar P</strong>, Gebb J, Reimers L, Bernstein PB, Chazotte C, Merkatz IR. <em>First trimester 3-dimensional power Doppler of the utero-placental circulation space: A potential screening method for preeclampsia. </em>AJOG. 2010 ;203(3):238.e1-7.</p>
<p style="text-align: left; padding-left: 30px;">27. <strong>Dar P</strong>, Gebb J. <em>Reply: First-trimester 3-dimensional power Doppler for the screening of preeclampsia: the analysis of a greater proportion of the uteroplacental unit might improve the accuracy of the method </em>.AJOG. 2011 Feb;204(2):e5-6.</p>
<p style="text-align: left; padding-left: 30px;">28. Gebb J, Demasio K, <strong>Dar P</strong>. <em>Prenatal sonographic diagnosis of a familial Saethre-Chotzen Syndrome. </em>J Ultrasound Med. 2011;30(3):420-2</p>
<p style="text-align: left; padding-left: 30px;">29. Gebb J, <strong>Dar P</strong>. <em>Color Doppler ultrasound of spiral artery blood flow in the prediction of preeclampsia and intrauterine growth restriction</em>. Best Prac Res Clin Obstet Gynecol. 2011. In press</p>

EMR ID
4197
Biography

<p>Pe&rsquo;er Dar, MD, is Director of Fetal Medicine and OBGYN Ultrasound at Montefiore and Professor of Obstetrics and Gynecology and Women&rsquo;s Health at our Albert Einstein College of Medicine. Dr. Dar&rsquo;s clinical focus is on the care of women who carry babies with disorders and medical conditions that may affect their lives and he leads the Fetal Medicine and Surgery Team at Montefiore. He particularly specializes in diagnosis and management of medical and structural abnormalities in the fetus and in complicated twin and triplet pregnancies. His expertise include performing detailed ultrasound examination of the fetus including fetal echocardiography (scanning of the fetal heart) and fetal neurosonography (scanning of the fetal brain) as well as performing in-utero fetal surgeries such as fetoscopic laser surgery for monochorionic twins with twin to twin transfusion syndrome, in-utero blood transfusion for fetuses with anemia and in-utero drainage and shunt procedures. Dr. Dar is also experienced in performing amniocentesis, chorionic villous sampling (CVS) and multifetal selective reduction for multiple pregnancies.&nbsp;&nbsp;&nbsp;&nbsp;</p><p>Dr. Dar completed his Doctor of Medicine from Tel-Aviv University in Tel-Aviv, Israel in 1986. He started his postgraduate education at Assaf Harofe Medical Center, Tel-Aviv University, with a residency in obstetrics and gynecology and a specialty in high-risk pregnancies from 1992 through 1998. He then came to Montefiore-Einstein, completing a two-year fellowship in medical and reproductive genetics. After spending two years as an attending-specialist in the field of prenatal diagnosis he completed in 2005 three-year residency in obstetrics and gynecology at Montefiore-Einstein. In 2007, he completed additional training in fetal surgery in world-known fetal surgery centers in France and Belgium. &nbsp;</p><p>Dr. Dar is very active in research and he is currently the principal investigator in many studies including international multicenter studies. His research focus is in fetal medicine and surgery, non-invasive prenatal screening and placenta accreta spectrum. He has shared his work in many peer-reviewed journals, textbook chapters, abstracts and invited presentations. He is also a reviewer for national and international journals including the <em>American Journal of Obstetrics and Gynecology, Plos one and Prenatal Diagnosis. </em></p><p>Dr. Dar is board certified in both Obstetrics and Gynecology and Clinical Genetics and is a member of several professional societies including the Society of Maternal and Fetal Medicine, International Fetal Medicine and Surgery Society and the International Society of Ultrasound in Obstetrics and Gynecology. He has been regularly listed among Castle Connolly Top Doctors for obstetrics and gynecology in the New York Metro area.</p>

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Robert D. Burk

Submitted by Anonymous (not verified) on
Full Name
Robert D. Burk
Profile Image URL
https://assets.montefioreeinstein.org/profiles/images/Burk_Robert_MD_2x.jpg
Type
Provider
Faculty
Expert
First Name
Robert
Last Name
Burk
NPI
1639255904
Faculty ID
8221
CMO Specialties
Employment Status
Full Time
Patient Type
Pediatric
Department
einstein-dept-pediatrics
einstein-dept-microbiology-immunology
einstein-dept-obstetrics-gynecology-womens-health
einstein-dept-epidemiology-population-health
Gender
Male
Email
robert.burk@einsteinmed.edu
Phone
718-430-3720
Titles
Type
Academic
Department
Department of Pediatrics
Department Link
Rank
Professor
Division
Pediatric Genetic Medicine
Type
Academic
Department
Department of Microbiology & Immunology
Department Link
Rank
Professor
Type
Academic
Department
Department of Obstetrics & Gynecology and Women's Health
Department Link
Rank
Professor
Division
Gynecological Oncology
Type
Academic
Department
Department of Epidemiology & Population Health
Department Link
Rank
Professor
Tags
me-patientcare-cancer-research-epidemiology
Division
Epidemiology
Type
Administrative
Title
Vice Chair for Translational Research, Department of Pediatrics
Locations
Is Primary
On
Type
Clinical
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8444 40.85103)
Address Line 1
1300 Morris Park Avenue
City
Bronx
State
NY
Zip
10461-1900
Location Title
Montefiore at AECOM
Is Primary
Off
Type
Academic
Location (Address, State, City, Zip)
Not used, will be deleted
Coordinates
POINT (-73.8459022 40.8504961)
Building
Forchheimer Building
Room
109
Address Line 1
Albert Einstein College of Medicine
Address Line 2
Jack and Pearl Resnick Campus
Address Line 3
1300 Morris Park Avenue
City
Bronx
State
NY
Zip
10461
Location Title
Albert Einstein College of Medicine
Education and Trainings
Education Type Label
Medical Education
Education Institution
George Washington University School of Medicine
Education Type Label
Fellowship
Education Institution
John Hopkins Hospital, Maryland
Education Type Label
Residency
Education Institution
University of California, San Francisco
Professional Interests

<p>The main focus of the Burk laboratory is to utilize population-based longitudinal studies from large epidemiological cohorts including those with and without HIV to study the dynamics of host-microbe interactions. These include HPV and development of cancer, and the human microbiome and disease outcomes (cancer, infectious diseases, cardiovascular disease, diabetes, obesity, aging).</p>
<p>To understand complex ecological community of bacteria, fungi, viruses and other organisms and how that might interact for disease outcomes.&nbsp; These studies are built on understanding the application of laboratory tests to population-based studies. They employ NGS and state of the art bioinformatics.</p>
<p>Other interests of the lab include the genetics of complex human disease (prostate cancer, excessive sweating) using large case-control clinical collections of genomic DNAs with candidate gene sequencing; and, the cell biology of VHL and its role in primary cilia formation and activity and its disruption in renal cancer.</p>
<p>The lab is dedicated to creating a warm environment based on collaborative science and teamwork.&nbsp; Our mission is to facilitate each individual reaching his or her potential through learning, experimentation and sharing in the pursuit of knowledge to promote human health and development.</p>

Research Areas
laboratory-based translational research;
human microbiome;
HPV molecular epidemiology;
HPV molecular evolution;
HPV and cervical cancer;
prostate cancer;
hyperhidrosis
Areas of Expertise
Animal papillomavirus
HPV
Head and Neck Cancers
Hyperhidrosis
Translational Research
Expert Summary

<div>Dr. Burk is an authority on the genomics and evolution of human papillomaviruses (HPV), which cause nearly all cases of cervical cancer. His team was the first to report, in the <em>New England Journal of Medicine</em>, that the vast majority of HPV infections in young women are short-lived and don&rsquo;t require treatment. More recently, his lab is utilizing Next-Gen sequencing to study papillomavirus genomics and methylation of the viral genome. His lab utilized this new technology to identify HPV16 and beta- and gamma-HPVs associated with head and neck squamous cell cancers (HNSCCs).<br /><br /></div>
<div>Dr. Burk is also currently investigating the role of the human microbiome and cervical HPV natural history. He is a co-PI on a grant with Drs. Kaplan and Rob Knight (UCSD) studying the human gut microbiome and obesity and diabetes. Dr. Burk&rsquo;s lab has pioneered translational studies of the human microbiome by developing home collection kits that have been used to collect over 5,000 samples.<br /><br /></div>
<div>Dr. Burk was elected in 2015 as a fellow of the American Association for the Advancement of Science (AAAS).</div>

CHAM Provider
On
Professional Title
M.D.
Selected Publications

<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">(out of 503 published papers; google h-index 126)</p>
<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">&nbsp;</p>
<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;"><span style="font-size: 12pt; text-indent: -27pt; font-family: Arial, sans-serif;">Gradissimo A, Clarke MA, Xue X, Castle PE, Raine-Bennett TR, Schiffman M, Wentzensen N, Strickler HD, Burk RD. A Novel HPV/Host DNA Methylation-Score and Detection of Cervical Adenocarcinoma. J Natl Cancer Inst. 2023. Epub 2023/07/19. doi: 10.1093/jnci/djad134. PMID: 37467068; </span><span style="font-size: 12pt; text-indent: -27pt; font-family: Arial, sans-serif; color: #191919;">PMC1069984</span><span style="font-size: 12pt; text-indent: -27pt; font-family: Arial, sans-serif;">.</span></p>
<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">&nbsp;</p>
<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;"><span style="font-size: 12pt; font-family: Arial, sans-serif; color: #242424; background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial;">Usyk M, Peters B, Karthikeyan S, McDonald D, Sollecito C, Vazquez-Baeza Y, Shaffer J, Gellman M, Talavera G, Daviglus M, Thyagarajan B, K</span><span style="font-size: 12pt; font-family: Arial, sans-serif; color: #242424; background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial;">night R, Qi Q, Kaplan RC, and Burk, R.D. Comprehensive Evaluation of Shotgun Metagenomics, </span><span style="font-size: 12pt; font-family: Arial, sans-serif; background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial;">Amplicon Sequencing and Harmonization of These Platforms for Epidemiological Studies. Cell Report Methods </span><span style="font-size: 12pt; font-family: Arial, sans-serif;">2023 Jan 23;3(1):100391. eCollection 2023 Jan 23. PMID:&nbsp;36814836; PMC9939430</span></p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;"><span style="font-family: Arial, sans-serif; font-size: 12pt;">Schiffman M, Mirabello L, Egemen D, Befano B, Xiao Y, Wentzensen N, Raine-Bennett T, Nayar R, Cheung LC, Rositch A, Beaty T, Perkins RB, de Sanjose S, Lorey T, Castle PE, Burk RD. The combined finding of HPV 16, 18, or 45 and cytologic Atypical Glandular Cells (AGC) indicates a greatly elevated risk of in situ and invasive cervical adenocarcinoma. Gynecol Oncol. 2023;174:253-61. Epub 2023/05/27. doi: 10.1016/j.ygyno.2023.05.011. PMID: 37243996</span></p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;"><span style="font-family: Arial, sans-serif; font-size: 12pt;">Burk RD, Mirabello L, DeSalle R. Distinguishing Genetic Drift from Selection in Papillomavirus Evolution. Viruses. 2023;15(8). Epub 2023/08/26. doi: 10.3390/v15081631. PMID: 37631973; PMC10458755.</span></p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Usyk M, Schlecht NF, Pickering S, Williams L, Sollecito CC, Gradissimo A, Porras C, Safaeian M, Pinto L, Herrero R, Strickler HD, Viswanathan S, Nucci-Sack A, Diaz A, Burk RD.<em>molBV</em>reveals immune landscape of bacterial vaginosis and predicts human papillomavirus infection natural history. Nat Commun. 2022;13(1):233. Epub 2022/01/13. doi: 10.1038/s41467-021-27628-3. PMID: 35017496;&nbsp;PMC8752746.</p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Schlecht NF, Diaz A, Nucci-Sack A, Shyhalla K, Shankar V, Guillot M, Hollman D, Strickler HD, Burk RD. Incidence and Types of Human Papillomavirus Infections in Adolescent Girls and Young Women Immunized With the Human Papillomavirus Vaccine. JAMA Netw Open. 2021 Aug 2;4(8):e2121893. doi: 10.1001/jamanetworkopen.2021.21893. PMID: 34424304; PMC8383132.</p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Gressel GM, Usyk M, Frimer M, Kuo DYS, Burk RD. Characterization of the endometrial, cervicovaginal and anorectal microbiota in post-menopausal women with endometrioid and serous endometrial cancers. PLoS One. 2021 Nov 5;16(11):e0259188. doi: 10.1371/journal.pone.0259188. PMID: 34739493; PMC8570463.</p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Chen Z, Utro F, Platt D, DeSalle R, Parida L, Chan PKS, Burk RD. K-Mer Analyses Reveal Different Evolutionary Histories of Alpha, Beta, and Gamma Papillomaviruses. Int J Mol Sci. 2021 Sep 6;22(17):9657. doi: 10.3390/ijms22179657. PMID: 34502564; PMC8432194.</p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Kurilshikov,&nbsp;<sup>&nbsp;</sup>A. . . . Burk, R.D. . . . Zhernakova, A. Large-scale association analyses identify host factors influencing human gut microbiome composition. Nat. Genet. 53: 156-165, 2021. doi: 10.1038/s41588-020-00763-1; PMID: 33462485;&nbsp;PMC8515199.</p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;"><span class="MsoHyperlink" style="color: blue; text-decoration: underline;"><span style="color: windowtext; text-decoration: none;">&nbsp;</span></span></p>
<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Chen, Z., DeSalle, R., Schiffman, M., Herrero, R., Wood, C.E., Ruiz, J.C., Clifford, G.M., Chan, P.K.S. and Burk, R.D.&nbsp;&nbsp;Niche adaptation and viral transmission of human papillomaviruses from archaic hominins to modern humans. PLoS Pathog. 2018, 14(11):&nbsp;e1007352.&nbsp;PMID: 30383862; PMC6211759.</p>
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<p class="MsoNormal" style="margin: 0in 0in 0.0001pt; font-size: medium; font-family: Arial;">Mirabello. L., Yeager, M., Yu, K., Clifford, G.M., Xiao, Y., Zhu, B., Cullen, M., Boland, J.F., Wentzensen, N., Nelson, C.W., Raine-Bennett, T., Chen, Z., Bass, S., Song, L., Yang, Q., Steinberg, M., Burdett, L., Dean, M.,&nbsp;Roberson, D., Mitchell, J., Lorey, T., Franceschi, S., Castle, P.E., Walker, J., Zuna, R., Kreimer, A.R., Beachler, D.C., Hildesheim, A., Gonzalez, P., Porras, C., Burk, R.D.<strong>* (co-last author)</strong>, Schiffman, M.<strong>*</strong>HPV16 E7 Genetic Conservation Is Critical to Carcinogenesis. Cell. 2017 Sep 7;170(6):1164-1174.PMID: 28886384;&nbsp;PMC5674785</p>

EMR ID
3213
Biography

<p>Robert D. Burk, MD, is an attending physician at the Children&rsquo;s Hospital at Montefiore Einstein. He is Professor and Vice Chair, Translational Research, Pediatrics, Genetic Medicine, and Professor of Microbiology & Immunology; Epidemiology & Population Health; and Obstetrics, Gynecology & Women&rsquo;s Health at our Albert Einstein College of Medicine. Dr. Burk&rsquo;s clinical focus centers on cancer genetics and inherited cancer risk.</p><p>After earning his Doctor of Medicine at George Washington University School of Medicine in 1976, Dr. Burk completed a surgical internship at the University of California, San Francisco, in 1977. He remained at this institution to complete his pediatric residency in 1980, followed by a medical genetics fellowship at The Johns Hopkins University School of Medicine in 1983. He then became a Senior Research Fellow in molecular virology and hepatology at the Albert Einstein College of Medicine until 1984.</p><p>Dr. Burk&rsquo;s research focuses on human papillomavirus (HPV) genomics and its association with cancer and human microbiome studies, investigating the role of the human microbiome in health through large epidemiological studies. His work has been published in numerous peer-reviewed journals and shared through community presentations, media appearances, invited lectures, review articles and book chapters. He is a reviewer for many scientific journals, including the <em>New England Journal of Medicine</em><em>, Hepatology</em> and the <em>Journal of Virology</em>, among others.</p><p>Dr. Burk is a Diplomate of the National Board of Medical Examiners, the American Board of Pediatrics and the American Board of Medical Genetics as a Clinical Geneticist. He is or has been a member of several professional organizations, including the American Society for Microbiology, the American Society of Human Genetics and the Society for Pediatric Research, among others. In 2013, Dr. Burk received the Honorary Alumnus Award and the Saul R. Korey Award in Translational Science & Medicine from the Albert Einstein College of Medicine. In 2015, he became an Elected Fellow of the American Association for the Advancement of Science.</p>

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