J
Jeffrey D. Mandell
Researcher at University of California, San Francisco
Publications - 15
Citations - 4000
Jeffrey D. Mandell is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 8, co-authored 9 publications receiving 3148 citations.
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Journal ArticleDOI
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov,Brian J. O'Roak,Stephen Sanders,Stephen Sanders,Michael Ronemus,Niklas Krumm,Dan Levy,Holly A.F. Stessman,Kali Witherspoon,Laura Vives,Karynne E. Patterson,Joshua D. Smith,Bryan W. Paeper,Deborah A. Nickerson,Jeanselle Dea,Shan Dong,Shan Dong,Luis E. Gonzalez,Jeffrey D. Mandell,Shrikant Mane,Michael T. Murtha,Catherine A.W. Sullivan,Michael F. Walker,Zainulabedin Waqar,Liping Wei,A. Jeremy Willsey,A. Jeremy Willsey,Boris Yamrom,Yoon-ha Lee,Ewa A. Grabowska,Ertugrul Dalkic,Ertugrul Dalkic,Zihua Wang,Steven Marks,Peter Andrews,Anthony Leotta,Jude Kendall,Inessa Hakker,Julie Rosenbaum,Beicong Ma,Linda Rodgers,Jennifer Troge,Giuseppe Narzisi,Seungtai Yoon,Michael C. Schatz,Kenny Ye,W. Richard McCombie,Jay Shendure,Evan E. Eichler,Evan E. Eichler,Matthew W. State,Matthew W. State,Michael Wigler +52 more
TL;DR: It is estimated that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation.
Journal ArticleDOI
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephen Sanders,Xin He,A. Jeremy Willsey,A. Gulhan Ercan-Sencicek,Kaitlin E. Samocha,Kaitlin E. Samocha,A. Ercument Cicek,A. Ercument Cicek,Michael T. Murtha,Vanessa H. Bal,Somer L. Bishop,Shan Dong,Arthur P. Goldberg,Cai Jinlu,John F. Keaney,Lambertus Klei,Jeffrey D. Mandell,Daniel Moreno-De-Luca,Christopher S. Poultney,Elise B. Robinson,Elise B. Robinson,Louw Smith,Tor Solli-Nowlan,Mack Y. Su,Nicole A. Teran,Michael F. Walker,Donna M. Werling,Arthur L. Beaudet,Rita M. Cantor,Eric Fombonne,Daniel H. Geschwind,Dorothy E. Grice,Catherine Lord,Jennifer K. Lowe,Shrikant Mane,Donna M. Martin,Eric M. Morrow,Michael E. Talkowski,James S. Sutcliffe,Christopher A. Walsh,Timothy W. Yu,David H. Ledbetter,Christa Lese Martin,Edwin H. Cook,Joseph D. Buxbaum,Mark J. Daly,Mark J. Daly,Bernie Devlin,Kathryn Roeder,Matthew W. State +49 more
TL;DR: Analysis of de novo CNVs from the full Simons Simplex Collection replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci, including 6 CNV regions.
Journal ArticleDOI
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Donna M. Werling,Harrison Brand,Harrison Brand,Joon Yong An,Matthew R. Stone,Lingxue Zhu,Joseph T. Glessner,Joseph T. Glessner,Ryan L. Collins,Shan Dong,Ryan M. Layer,Eirene Markenscoff-Papadimitriou,Andrew Farrell,Grace Schwartz,Harold Z. Wang,Benjamin Currall,Benjamin Currall,Xuefang Zhao,Xuefang Zhao,Jeanselle Dea,Clif Duhn,Carolyn A. Erdman,Michael C. Gilson,Rachita Yadav,Rachita Yadav,Robert E. Handsaker,Robert E. Handsaker,Seva Kashin,Seva Kashin,Lambertus Klei,Jeffrey D. Mandell,Tomasz J. Nowakowski,Yuwen Liu,Sirisha Pochareddy,Louw Smith,Michael F. Walker,Matthew J. Waterman,Xin He,Arnold R. Kriegstein,John L.R. Rubenstein,Nenad Sestan,Steven A. McCarroll,Steven A. McCarroll,Benjamin M. Neale,Benjamin M. Neale,Hilary Coon,A. Jeremy Willsey,Joseph D. Buxbaum,Mark J. Daly,Mark J. Daly,Matthew W. State,Aaron R. Quinlan,Gabor T. Marth,Kathryn Roeder,Bernie Devlin,Michael E. Talkowski,Stephen Sanders +56 more
TL;DR: Analyses of 519 autism spectrum disorder families did not identify association with any categories after correction for 4,123 effective tests, and the work suggests that robust results from WGS studies will require large cohorts and strategies that consider the substantial multiple-testing burden.
Journal ArticleDOI
De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Shan Dong,Shan Dong,Michael F. Walker,Nicholas Carriero,Michael DiCola,A. Jeremy Willsey,A. Jeremy Willsey,Adam Yongxin Ye,Zainulabedin Waqar,Luis E. Gonzalez,John D. Overton,Stephanie Frahm,John F. Keaney,Nicole A. Teran,Jeanselle Dea,Jeffrey D. Mandell,Vanessa H. Bal,Catherine A.W. Sullivan,Nicholas M. DiLullo,Rehab O. Khalil,Jake Gockley,Zafer Yüksel,Sinem M. Sertel,A. Gulhan Ercan-Sencicek,Abha R. Gupta,Shrikant Mane,Michael Sheldon,Andrew Brooks,Kathryn Roeder,Bernie Devlin,Matthew W. State,Liping Wei,Stephen Sanders,Stephen Sanders +33 more
TL;DR: On the basis of mutation rates in probands versus unaffected siblings, it is concluded that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD.
Journal ArticleDOI
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
A. J. Willsey,Thomas V. Fernandez,Dongmei Yu,Robert A. King,Andrea Dietrich,Jinchuan Xing,Stephen Sanders,Jeffrey D. Mandell,Alden Y. Huang,P. Richer,Louw Smith,Shan Dong,Kaitlin E. Samocha,Benjamin M. Neale,Giovanni Coppola,Carol A. Mathews,Jay A. Tischfield,Jeremiah M. Scharf,Matthew W. State,Gary A. Heiman +19 more
TL;DR: WES of 325 Tourette disorder trios and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics observe strong and consistent evidence for the contribution of de novo likely gene-disrupting variants.