MauriceJMahoneyMD

Medical Genetics • New Haven, CT

Clinical Biochemical Genetics, Clinical Genetics

Professor of Clinical Genetics, Yale University

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Office
333 Cedar St, rm WWW330
Yale Genetics Consultation Serv
New Haven, CT 06520
Phone+1 203-785-2660

Fax+1 203-785-3404
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Education & Training

UPMC Children's Hospital of PittsburghResidency, Pediatrics, 1965 - 1966
Johns Hopkins UniversityResidency, Pediatrics, 1962 - 1965
University of Pittsburgh School of MedicineClass of 1962

Certifications & Licensure

CT State Medical License 1968 - 2017
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics

Awards, Honors, & Recognition

CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2014
America's Top Doctors Castle Connolly, 2003-2014
Top Doctors: New York Metro Area Castle Connolly, 2002-2014
New York Magazine: Top Doctors Castle Connolly, 2002-2008
Whos Who in Medicine and Healthcare Marquis Whos Who
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Clinical Trials

Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Start of enrollment: 2012 Jan 01
Terminated

Publications & Presentations

PubMed

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.
Omar Sobh, Robert O’Sullivan, Maurice J. Mahoney, Gary Kleinman> ;Journal of Obstetrics and Gynaecology. 2021 Jun 23
10 citations
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings
Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice J. Mahoney, Allen E. Bale, James L. McGrath, Michele Spencer-Manzon, Peinin...> ;Frontiers in Genetics. 2019 Nov 20
20 citations
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
113 citations
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
12 citations
Noninvasive Prenatal Testing and Detection of Maternal Cancer.
Roberto Romero, Maurice J. Mahoney> ;JAMA. 2015 Jul 14
9 citations
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.
Geralyn Lambert-Messerlian, Edward M. Kloza, John Williams, Jaroslav Loucky, Barbara O'Brien, Louise Wilkins-Haug, Maurice J. Mahoney, Pierangela De Biasio, Antoni Bor...> ;Genetics in Medicine. 2014 May 1
Antibiotic prophylaxis before amniocentesis.
Hobbins, J.C., Pilu, G., Abuhumad, A., Alfirevic, Z., Bahado-Singh, R.O., Benacerraf, B.R., Berkowitz7, R.L., Cetin, I., Copel, J.A., Eik-Nes, S., Frusca, T., Galan, H...> ;Prenat Diagn. 2011 Dec
22 citations
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
Peining Li, Pawel Pomianowski, Miriam S. DiMaio, Joanne R. Florio, Michael R. Rossi, Bixia Xiang, Fang Xu, Hui Yang, Qian Geng, Jiansheng Xie, Maurice J. Mahoney> ;American Journal of Medical Genetics. Part A. 2011 Jul 1
39 citations
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Michael R. Rossi, Miriam S. DiMaio, Bixia Xiang, Kangmo Lu, Hande Kaymakçalan, Margretta R. Seashore, Maurice J. Mahoney, Peining Li> ;American Journal of Medical Genetics. Part A. 2009 Dec 1
8 citations
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Aviva Fattal-Valevski, Miriam S. DiMaio, Fuki M. Hisama, Grace M. Hobson, Angelique Davis-Williams, James Y. Garbern, Maurice J. Mahoney, Edwin H. Kolodny, Gregory M. ...> ;Journal of Child Neurology. 2009 Jan 16
10 citations
Trisomy 5 mosaicism in amniotic fluid with normal outcome
Anthony C. Casamassima, Patrick L. Wilmot, Maurice J. Mahoney, Robin V. Scott, Lawrence R. Shapiro> ;Clinical Genetics. 2008 Jun 28
2 citations
LabCorp v. Metabolite Laboratories: The Supreme Court Listens, but Declines to Speak
Roger D. Klein, Maurice J. Mahoney> ;The Journal of Law, Medicine & Ethics. 2008 Mar 1
20 citations
PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA
Maurice J. Mahoney, Leon E. Rosenberg, Bengt L Ndblad, Johan Waldenstrom, Rolf Zetterström> ;Acta Paediatrica Scandinavica. 2008 Jan 21
88 citations
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Katarina Lehmann, Petra Seemann, Fatma Silan, Timm O. Goecke, S. Irgang, Klaus W. Kjaer, S. Kjaergaard, Maurice J. Mahoney, Susanne Morlot, C. Reissner, Bronwyn Kerr, ...> ;American Journal of Human Genetics. 2007 Aug 1
4 citations
Medical legal issues in prenatal diagnosis.
Roger D. Klein, Maurice J. Mahoney> ;Clinics in Perinatology. 2007 Jun 1
12 citations
Proteomics: a novel methodology to complement prenatal diagnosis of chromosomal abnormalities and inherited human diseases
Mert Ozan Bahtiyar, Joshua A. Copel, Maurice J. Mahoney, Irina A. Buhimschi, Catalin S. Buhimschi> ;American Journal of Perinatology. 2007 Feb 1
15 citations
The Mid-Trimester Genetic Sonogram
Ray O. Bahado-Singh, Utko A. Oz, Inanc Mendilcioglu, Maurice J. Mahoney> ;Seminars in Perinatology. 2005 Aug 1
59 citations
Elevated first-trimester nuchal translucency increases the risk of congenital heart defects.
Ray O. Bahado-Singh, Ronald J. Wapner, Elizabeth Thom, Julia Zachary, Lawrence D. Platt, Maurice J. Mahoney, Anthony Johnson, Richard K. Silver, Eugene Pergament, Kare...> ;American Journal of Obstetrics and Gynecology. 2005 May 1
44 citations
Fragile X syndrome carrier screening in the prenatal genetic counseling setting
Amy Cronister, Miriam S. DiMaio, Maurice J. Mahoney, Alan E. Donnenfeld, Stephanie Hallam> ;Genetics in Medicine. 2005 Apr 1
29 citations
Late first-trimester placental disruption and subsequent gestational hypertension/preeclampsia.
Richard K. Silver, R. Douglas Wilson, John Philip, Elizabeth Thom, Julia Zachary, Patrick Mohide, Maurice J. Mahoney, Joe Leigh Simpson, Lawrence D. Platt, Eugene Perg...> ;Obstetrics and Gynecology. 2005 Mar 1
51 citations
Sequential pathways of testing after first-trimester screening for trisomy 21.
Lawrence D. Platt, Naomi Greene, Anthony Johnson, Julia Zachary, Elizabeth Thom, David S. Krantz, Joe Leigh Simpson, Richard K. Silver, Rosalinde J. M. Snijders, Laura...> ;Obstetrics and Gynecology. 2004 Oct 1
183 citations
Association of extreme first-trimester free human chorionic gonadotropin-β, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth res...
David S. Krantz, Laura Goetzl, Joe Leigh Simpson, Elizabeth Thom, Julia Zachary, Terrence W. Hallahan, Richard K. Silver, Eugene Pergament, Lawrence D. Platt, Karen Fi...> ;American Journal of Obstetrics and Gynecology. 2004 Oct 1
59 citations
Pregnancy-Associated Plasma Protein A, Free β-hCG, Nuchal Translucency, and Risk of Pregnancy Loss
Laura Goetzl, David S. Krantz, Joe Leigh Simpson, Richard K. Silver, Julia Zachary, Eugene Pergament, Lawrence D. Platt, Maurice J. Mahoney, Ronald J. Wapner> ;Obstetrics and Gynecology. 2004 Jul 1
325 citations
First-trimester screening for trisomies 21 and 18
Ronald J. Wapner, Elizabeth Thom, Joe Leigh Simpson, Eugene Pergament, Richard K. Silver, Karen Filkins, Lawrence D. Platt, Maurice J. Mahoney, Anthony L. Johnson, W. ...> ;The New England Journal of Medicine. 2003 Oct 9
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