AubreyMilunskyMDD.Sc.,FRCP, FACMG

PubMed

• 49 citations
  Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
  B R Haddad, Angela E. Lin, Herman E. Wyandt, Aubrey Milunsky
  Journal of Medical Genetics. 1996-12-01
• 12 citations
  Carbohydrate tolerance, growth hormone and insulin levels in mongolism.
  Aubrey Milunsky, Clara Lowy, Arthur H. Rubenstein, A. D. Wright
  Developmental Medicine and Child Neurology. 2008-11-12
• 161 citations
  Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
  David Margolin, Maria Kousi, Yee-Ming Chan, Elaine T. Lim, Jeremy D. Schmahmann
  The New England Journal of Medicine. 2013-05-22

Journal Articles

• The “New Genetics” in Clinical Practice-----A Brief Primer  
  Milunsky A, J Amer Board Family Med, 1/1/2017
• Sickle Cell Disease  
  Milunsky A, New Engl J Med, 1/1/2017
• Prenatal Diagnosis of Chronic Intestinal Pseudo-Obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant  
  Milunsky A, Lazier J, Baldwin C, Young C, Primack D, Milunsky JM, Prenatal Diagnosis, 1/1/2017
• Current Controversies in Prenatal Diagnosis: Should NIPT routinely include microdeletions/microduplications?  
  Rose NC, Benn P, Milunsky A, Prenatal Diagnosis, 1/1/2016
• Patella Alta and Trochlea Dysplasia is associated with abnormal Type II Collagen and Matrix Accumulation in Chondrocytes  
  Skagen PS, Horn T, Milunsky A, Dejour D, Staergaard B, Kruse HA, Nicolaisen T, Microscopy Research, 1/1/2014
• Ataxia, Dementia,and Hypogonadotropic Hypogonadism due to mutations in RNF216, an E3 Ubiquitin-Protein Ligase linking neurodegenerative and Reproductive Endocrine phen...  
  Margolin D, Chan YM, Lim E, Schmahmann J, Hadjivassiliou M, Hall J, Adam I, Dwyer A, Plummer L, Aldrin S, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky J,Chan J, H..., New Engl J Med, 1/1/2013
• Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a deceased newborn and identification of a new mutation in exon 29 of the CHD7 gene  
  Montano N, Quadrelli A, Milunsky A, Vaglio A, Quadrelli R, Stem Cell Discovery, 1/1/2012
• Fraternal twins with Aarskog-Scott Syndrome, a Case with Germline Mosaicism  
  Pilozzi-Edmonds L, Maher TA, Milunsky A, Al-Thihli K, Braverman N, Alfares A, Amer J Med Genet A, 1/1/2011
• Clinical, cytogenetic and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q2211-qter due to a...  
  Vaglio A, Milunsky A, Huang X-L, Mechoso B, Quadrelli A, Pagano S, Bellini S, Costabel M, Quadrelli R, Genet Test Mol Biomarkers, 1/1/2010
• Whole Gene Duplication of the PQBP1 Gene in Syndrome Resembling Renpenning  
  Flynn M, Zou Y, Milunsky A, Am J Med Genet, 1/1/2010
• A fourteen year follow-up of a case detected prenatally of partial trisomy 13q2121-qter and monosomy 18q223-qter as a result of a maternal complex chromosome rearrange...  
  Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang X-L, Viera E, Mechoso, Bellini S, Costabel M, Vaglio A, Genet Test Mol Biomarkers, 1/1/2009
•  
  Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R, Eur J Med Genet, 1/1/2008
• Pallister-Killian syndrome: tetrasomy of 12pter->12p1122 in a boy with an analphoid, inverted duplicated marker chromosome  
  Huang XL, Isabel de Michelene M, Leon E, Maher TA, McClure R, Milunsky A, Clin Genet, 1/1/2007
• A De Novo Complex Chromosome Rearrangement Involving Chromosomes 2,3,5,9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular ...  
  Mechoso B, Vaglio A, Quadrelli A, Mark HFL, Huang X-L, Milunsky A, Quadrelli R, Fetal Diag & Ther, 1/1/2007
• The Clinical Utility of MLPA in Waardenburg Syndrome  
  Milunsky JM, Maher TA, Milunsky A, Genet Test, 1/1/2007
• The value of MLPA in Waardenburg syndrome  
  Milunsky JM, Maher TA, Ito M, Milunsky A, Genet Test, Summer, 1/1/2007
• Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis  
  Wyandt, H, Tonk VJ, Huang X-L, Evans AT, Milunsky JM, Milunsky A, Fetal Diag & Ther, 1/1/2006
• A Large Deletion in the CFTR Gene in a CBAVD patient  
  Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM, Genet Med, 1/1/2006
• The CFTR 5T Variant has a Low Penetrance in Females that is Partially Attributable to its Haplotype  
  Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss M, Quan F, Anguiano A, Huang S, Hantash F, Strom S, Genet Med, 1/1/2006
• Characterization of an Analphoid Supernumerary marker Chromosome with a Neocentromere Derived from 15q25->qter Using High Resolution CGH and Multiplex FISH Analyses  
  Huang X-L, deMichelena MA, Mark HFL, Harston R, Benke PJ, Price SJ, Milunsky A, Clin Genet, 1/1/2005
• Gene Sequencing in Neonates and Infants with the Long QT Syndrome (LQTS)  
  Shim SH, Ito M, Maher T, Milunsky, A, Genetic Testing, 1/1/2005
• The Prenatal Diagnosis of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)  
  Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C, Pren Diagn, 1/1/2005
• Precise Prenatal Diagnosis of Tuberous Sclerosis by Sequencing the TSC2 Gene  
  Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brumond MR, Milunsky JM, Pren Diagn, 1/1/2005
• Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 ataxia families  
  Ikeda Y, Dalton J, Moseley M, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LPW, Am J Hum Genet, 1/1/2004
• Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg’s syndrome and other congenital defects  
  Shim SH, Wyandt HE, McDonald-McGinn DM, Zackai EZ, Milunsky A, Clin Genet, 1/1/2004
• Join now to see all

Books/Book Chapters

• I DIDN'T KNOW, I DIDN'T KNOW: Avoidable Deaths and Harm due to Medical Negligence 
  Milunsky AAmazon Createspace2018
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Genetic Counseling: Preconception, Prenatal and Perinatal 
  Milunsky A. and Milunsky J.M.Editors: A.Milunsky & J.M.Milunsky.Wiley & Sons, United KingdomEdition 7th,2016
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Amniotic Fluid Constituents and Cell Culture 
  Van Dyke D.L. and Milunsky A.Editors: A.Milunsky & J.M.Milunsky.Wiley & Sons, United KingdomEdition 7th,2016
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Fetal Therapy 
  Speiser P.W. and Milunsky A.Editors: A.Milunsky & J.M.Milunsky.Wiley & Sons, United KingdomEdition 7th,2016
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Molecular Genetics and Prenatal Diagnosis 
  Milunsky A, Baldwin C, Milunsky JMEditors: A.Milunsky & J.M.Milunsky.Wiley & Sons, United KingdomEdition 7th,2016
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. (Foreign Translation: Chinese) 
  Milunsky A. and Milunsky JWiley & Sons, United KingdomEdition 7th,2016
• Neonatal Encephalopathy and Neurologic Outcome. 
  Chapter: Genes, Genetic Disorders and Neonatal Encephalopathy. 
  Milunsky AEditors: M. D’Alton.American College of Obstetricians and Gynecologists and American Academy of Pediatrics2014
• Your Genes, Your Health: A Critical Family Guide that Could Save Your Life. (Foreign Translation: Indonesian) 
  Milunsky AOxford University Press2012
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Milunsky A. and Milunsky JWiley-Blackwell, United KingdomEdition 6th,2010
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Preconception, Prenatal and Perinatal. 
  Milunsky A, J. MilunskyWiley-Blackwell, United KingdomEdition 6th,2010
• Fetal and Neonatal Neurology and Neurosurgery 
  Chapter: Epidemiology and Prevention of Neural Tube Defects. 
  Milunsky AEditors: Levene MI and Chervenak F.A..Churchill LivingstoneEdition 4th,2009
• Clinical Obstetrics: The Fetus and Mother 
  Chapter: Genetic Counseling in Prenatal and Perinatal Medicine. 
  Milunsky JM, Milunsky AEditors: Reece EA, Hobbins JC.Wiley-Blackwell, United KingdomEdition 3rd,2007
• Proceedings of the 10th International Congress of Inborn Errors of Metabolism (ICIEM), Program Book 
  Chapter: Mitochondrial resequencing microarray analyses of first 100 patients with suspected oxphos disorders. 
  Ito M, Milunsky A, Milunsky JMMakuhari Messe, Chiba, Japan2006
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Milunsky AJohns Hopkins University Press, Baltimore, MDEdition 5th,2004
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Molecular Genetics and Prenatal Diagnosis. 
  Prior TW, Milunsky A, Vnencak-Jones CL, Phillips JA, IIIEditors: A. Milunsky.Johns Hopkins University Press, Baltimore, MDEdition 5th,2004
• Foreword In: Atlas of Human Chromosome Heteromorphism. 
  Milunsky AEditors: Wyandt HE and Tonk VS.Kluwer Academic PublishersEdition 1st,2004
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Maternal Serum Screening for Neural Tube and Other Defects. 
  Milunsky A, Canick JAEditors: A. Milunsky.Johns Hopkins University Press, Baltimore, MDEdition 5th,2004
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Amniotic Fluid. 
  Milunsky A and Dallaire LEditors: A. Milunsky.Johns Hopkins University Press, Baltimore, MDEdition 5th,2004
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 
  Chapter: Genetic Counseling: Preconception, Prenatal, and Perinatal. 
  Milunsky AEditors: A. Milunsky.Johns Hopkins University Press, Baltimore, MDEdition 5th,2004
• Your Genetic Destiny: Know Your Genes, Secure Your Health, and Save Your Life. (Paperback) 
  Milunsky APerseus Books, Cambridge, MA2002
• Your Genetic Destiny: Know Your Genes, Secure Your Health, and Save Your Life. (Foreign Translations: Hungarian, Korean, Chinese, Japanese, Taiwanese) 
  Milunsky APerseus Books, Cambridge, MA2001
• Medicine of the Fetus and Mother 
  Chapter: Genetic Counseling in Prenatal and Perinatal Medicine. 
  Milunsky JM, Milunsky AEditors: Reece EA, Hobbins JC.Lippincott-Raven, Philadelphia, PAEdition 2nd,1999
• Third International Bioethics Seminar, Fukui, Japan, 1993. Intractable Neurological Disorders: Human Genome Research & Society 
  Chapter: Ethics, Law and the "New" Genetics: Selected Aspects. 
  Page 249 - 254Milunsky AEditors: Norio Fujiki & Darryl R.J. Macer.Eubios Ethics Institute1994
• Medicine of the Fetus and Its Mother. 
  Chapter: Genetic counseling in prenatal and perinatal medicine. 
  Milunsky AEditors: Reece EA, Hobbins J, Mahoney MJ, Petrie R.JB Lippincott Company1992
• Heredity and Your Family's Health. 
  Milunsky AJohns Hopkins University Press, Baltimore, MD1992
• Join now to see all

Abstracts/Posters

• hotspot in the ACTG2 gene and mutation frequency in chronic intestinal pseudo-obstruction.
  Milunsky A., Baldwin C., Zhang X., Primack D., Curnow A., Milunsky J.M., Amer Soc Human Genetics, Annual Conference, Vancouver, Canada, 1/1/2016
• Chronic Intestinal Pseudo-obstruction.
  Milunsky A, Internat Foundation for Functional Gastrointestinal Disorders, 1/1/2016
• A recurrent familial L410R mutation in the TSC2 gene associated with isolated cardiac rhabdomyomas.
  Teitelbaum R, Golding F, Ryan G, Myles-Reid D, Basran RK, Milunsky A, Chitayat D, 12th International Congress of Human Genetics, Montreal, Canada, 1/1/2011
• Novel MML2 mutations identified in Kabuki syndrome.
  Basran RK, Milunsky A, Maher TA, Milunsky JM, 12th International Congress of Human Genetics, Montreal, Canada, 1/1/2011
• Validation of a next-generation sequencing platform in a clinical setting.
  Maher TA, Zhao M, Basran RK, Milunsky A, Milunsky JM, 12th International Congress of Human Genetics, Montreal, Canada, 1/1/2011
• Blinded Analysis of Cultured Amniotic Fluid Samples: Conventional Cytogenetics versus Affymetrix 6.0 Microarray vs Array Comparative Genomic Hybridization (aCGH).
  Maher TA, Milunsky JM, Anguiano A, Owen R, Strom CM, Milunsky A, American Society of Human Genetics. Annual Meeting, Honolulu, HI, 1/1/2009
• Prenatal Molecular Diagnosis of Tuberous Sclerosis Complex (TSC).
  Milunsky, A, Ito M, Maher TA, Flynn M, American College of Medical Genetics Annual Meeting, Tampa, FL, 1/1/2009
• Identification of two novel sequence variants in two X-linked mental retardation genes: ATRX and RSK2.
  Batista OI, Maher TA, Milunsky A, Milunsky JM, 58th Annual Meeting, American Society of Human Genetics, Philadelphia, PA, 1/1/2008
• Novel Mutations in Tuberous Sclerosis 1 and 2 Genetic Analysis: Genetic Counseling Implications.
  Milunsky JM, Ito M, Maher TA, Milunsky A, American College of Medical Genetics Annual Meeting, Nashville, TN, 1/1/2007
• Survival in Clinical Genetics: Perceptions of Reality and Truth.
  Milunsky A, American College of Medical Genetics Annual Clinical Genetics Meeting, 1/23/2006
• Prenatal Characterization of a De novo Complex Chromosome Rearrangement and Postnatal Confirmation by Conventional Cytogenetics, Multiplex FISH and High Resolution Com...
  Mechoso B, Vaglio A, Quadrelli A, Mark HFL, Huang X-L, Milunsky A, Quadrelli R, Proceedings of the XIII International Congress of Prenatal Diagnosis, Kyoto, Japan, 1/1/2006
• Characterization of an Analphoid Supernumerary Marker Chromosome Derived from 15q25?qter Using High Resolution CGH and Multiplex FISH Analyses.
  Huang X-L, deMichelena MI, Mark HF, Harston R, Benke PJ, Price SJ, Milunsky A, American Society of Human Genetics 55th Annual Meeting, 1/25/2005
• Agenesis or hypoplasia of major salivary and lacrimal glands due to FGF10 gene mutations.
  Milunsky JM, Zhao G, Maher TA, Milunsky A, American College of Medical Genetics Annual Meeting, 1/17/2005
• Defining Standard-of-Care DNA Screening Tests.
  Lebo RV, Wyandt HE, Milunsky A, American College of Medical Genetics Annual Meeting, 1/17/2005
• Deletion of CFTR exons 22-24 in a patient with congenital bilateral absence of the vas deferens (CBAVD).
  Hantash FM, Milunsky A, Wang Z, Sun W, Anguiano A, Strom CM, American College of Medical Genetics Annual Meeting, 1/17/2005
• Gene sequencing in neonates/infants with the Long QT syndrome (LQTS).
  Shim S, Ito M, Milunsky A, American College of Medical Genetics Annual Meeting, 1/17/2005
• Rapid diagnostic test for Trisomy 21 and other aneuploidies using mass spectrometry.
  Nelson MR, Whitacre JL, Oeth P, Kammerer S, Brambati B, Tului L, Milunsky A, Braun A, American College of Medical Genetics Annual Meeting, 1/17/2005
• Defining DNA Diagnostic Screening Tests Appropriate for Standard-of-Care.
  Lebo RV, Wyandt HE, Milunsky A, American Society of Human Genetics Annual Meeting, 1/26/2004
• Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg syndrome and other defects.
  Shim SH, Wyandt HE, Zackai EZ, McDonald-McGinn DM, Milunsky A, ASHG; ASGH Annual Meeting, 1/1/2003
• Analysis of 100 Cystic Fibrosis Mutations in 92 Patients with Congenital Absence of the Vas Deferens by Mass Spectrometry.
  Wang Z, Milunsky JM, Yamin M, Maher TA, Oates R, Milunsky A, ASHG; ASGH Annual Meeting, 1/1/2001
• Organization and evolution of immunoglobulin genes, and identification of genes involved in regulation and ontogeny of the immune system.
  Amemiya CT, Ota T, Rast J, Zon L, Milunsky A, and Litman GW, Proceedings of the 3rd International Meeting of the Society for Molecular Biology and Evolution, Hayama, Japan, 1/21/1995
• First trimester maternal serum free beta-hCG screening for chromosome defects.
  Milunsky A, Nebiolo L, Strom CM, Ginsberg N, Verlinsky Y, 7th Inter Conf on Early Prenatal Diag, 1/22/1994
• Maternal Serum AFP and HCG screening for chromosome defects.
  Milunsky A, Tsung Y-K, Nebiolo L, Miller S, 5th International Symposium of the International College of Pediatrics, Taipei, Taiwan, China, 1/1/1990
• First Turkish familial amyloidotic polyneuropathy has homozygous NET30 TTR
  Skinner M, Skare JC, Yasici H, Erken E, Milunsky A, Cohen AS, Proc of Vith International Symposium on Amyloidosis, Oslo, Norway, 1/1/1990
• ASN 90 is the variant TTR in an Italian familial amyloidotic polyneuropathy kinship.
  Skare JC, Jones LA, Cohen AS, Milunsky A, Skinner M, Proc of Vith International Symposium on Amyloidosis, Oslo, Norway, 1/1/1990
• Join now to see all

Lectures

• The 13th Annual Multispecialty Conference on Medical Negligence and Risk Management 
  Boston University School of Medicine Continuing Medical Education, Koloa, Hawaii - 1/5/2013
• The 29th Annual Conference on Obstetrics, Gynecology, Perinatal Medicine, Neonatology, and the Law 
  Boston University School of Medicine, Koloa, Hawaii - 1/2/2013

Other

• The prenatal detection of neural tube defects. Considerations for implementation of a national maternal serum alpha-fetoprotein screening program. Proceedings of an in... 
  Milunsky A, President's Committee on Mental Retardation, Racine, Wisconsin, U.S. Dept. HEW, Washington, D.C., HE
  1/1/1978