J
Jeff M. Milunsky
Researcher at Boston University
Publications - 108
Citations - 4218
Jeff M. Milunsky is an academic researcher from Boston University. The author has contributed to research in topics: Prenatal diagnosis & Trisomy. The author has an hindex of 31, co-authored 107 publications receiving 3835 citations. Previous affiliations of Jeff M. Milunsky include Harvard University & Tufts University.
Papers
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Journal ArticleDOI
Clinical Genetic Testing for Patients With Autism Spectrum Disorders
Yiping Shen,Kira A. Dies,Ingrid A. Holm,Carolyn Bridgemohan,Magdi M. Sobeih,Elizabeth B. Caronna,Karen J. Miller,Jean A. Frazier,Iris Silverstein,Jonathan Picker,Laura Weissman,Peter Raffalli,Shafali S. Jeste,Laurie A. Demmer,Heather Peters,Stephanie J. Brewster,Sara J J Kowalczyk,Beth Rosen-Sheidley,Caroline McGowan,Andrew Walter Duda,Sharyn A. Lincoln,Kathryn R. Lowe,Alison Schonwald,Michael Robbins,Fuki M. Hisama,Robert Wolff,Ronald E. Becker,Ramzi Nasir,David K. Urion,Jeff M. Milunsky,Leonard Rappaport,James F. Gusella,Christopher A. Walsh,Bai-Lin Wu,David T. Miller +34 more
TL;DR: CMA had the highest detection rate among clinically available genetic tests for patients with autism spectrum disorders and should be considered as part of the initial diagnostic evaluation of patients with ASD.
Journal ArticleDOI
TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome
Jeff M. Milunsky,Tom A. Maher,Geping Zhao,Amy E. Roberts,Heather J. Stalker,Roberto T. Zori,Michelle N. Burch,Michele Clemens,John B. Mulliken,Rosemarie Smith,Angela E. Lin +10 more
TL;DR: It is concluded that Branchio-oculo-facial syndrome is caused by mutations involving TFAP2A, and more patients need to be studied to determine possible genetic heterogeneity and to establish whether there are genotype-phenotype correlations.
Journal ArticleDOI
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
David Margolin,Maria Kousi,Yee-Ming Chan,Elaine T. Lim,Jeremy D. Schmahmann,Marios Hadjivassiliou,Janet E. Hall,Ibrahim Adam,Andrew A. Dwyer,Lacey Plummer,Stephanie V. Aldrin,Julia A. O'Rourke,Andrew Kirby,Kasper Lage,Kasper Lage,Kasper Lage,Aubrey Milunsky,Jeff M. Milunsky,Jennifer A. Chan,E. Tessa Hedley-Whyte,Mark J. Daly,Nicholas Katsanis,Stephanie B. Seminara +22 more
TL;DR: These findings link disordered ubiquitination to neurodegeneration and reproductive dysfunction and highlight the power of whole-exome sequencing in combination with functional studies to unveil genetic interactions that cause disease.
Journal ArticleDOI
A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
Chen Zhang,Jeff M. Milunsky,Stephanie Newton,Jaewon Ko,Jaewon Ko,Geping Zhao,Tom A. Maher,Helen Tager-Flusberg,Marc F. Bolliger,Marc F. Bolliger,Alice S. Carter,Antony A. Boucard,Antony A. Boucard,Craig M. Powell,Thomas C. Südhof,Thomas C. Südhof +15 more
TL;DR: Observations suggest that a point mutation in NL4 can cause autism spectrum disorder by a loss-of-function mechanism.
BookDOI
Genetic disorders and the fetus
Aubrey Milunsky,Jeff M. Milunsky +1 more
TL;DR: This 6th Edition maintains it's pre-eminence as the major repository of facts about prenatal diagnosis as a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields.