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Nicholas M. DiLullo
Researcher at Yale University
Publications - 4
Citations - 3326
Nicholas M. DiLullo is an academic researcher from Yale University. The author has contributed to research in topics: Epigenetics of autism & Copy-number variation. The author has an hindex of 4, co-authored 4 publications receiving 3053 citations.
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Journal ArticleDOI
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephen Sanders,Michael T. Murtha,Abha R. Gupta,John D. Murdoch,Melanie J. Raubeson,A. Jeremy Willsey,A. Gulhan Ercan-Sencicek,Nicholas M. DiLullo,Neelroop N. Parikshak,Jason L. Stein,Michael F. Walker,Gordon T. Ober,Nicole A. Teran,Youeun Song,Paul El-Fishawy,Ryan C. Murtha,Murim Choi,John D. Overton,Robert D. Bjornson,Nicholas Carriero,Kyle A. Meyer,Kaya Bilguvar,Shrikant Mane,Nenad Sestan,Richard P. Lifton,Murat Gunel,Kathryn Roeder,Daniel H. Geschwind,Bernie Devlin,Matthew W. State +29 more
TL;DR: It is shown, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects.
Journal ArticleDOI
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Stephen Sanders,A. Gulhan Ercan-Sencicek,Vanessa Hus,Rui Luo,Michael T. Murtha,Daniel Moreno-De-Luca,Su H. Chu,Michael P. Moreau,Abha R. Gupta,Susanne Thomson,Christopher E. Mason,Kaya Bilguvar,Patrícia B. S. Celestino-Soper,Murim Choi,Emily L. Crawford,Lea K. Davis,Nicole R. Davis Wright,Rahul M. Dhodapkar,Michael DiCola,Nicholas M. DiLullo,Thomas V. Fernandez,Vikram Fielding-Singh,Daniel O. Fishman,Stephanie Frahm,Rouben Garagaloyan,Gerald Goh,Sindhuja Kammela,Lambertus Klei,Jennifer K. Lowe,Sabata C. Lund,Anna D. McGrew,Kyle A. Meyer,William J. Moffat,John D. Murdoch,Brian J. O'Roak,Gordon T. Ober,Rebecca S. Pottenger,Melanie J. Raubeson,Youeun Song,Qi Wang,Brian L. Yaspan,Timothy W. Yu,Ilana R. Yurkiewicz,Arthur L. Beaudet,Rita M. Cantor,Martin Curland,Dorothy E. Grice,Murat Gunel,Richard P. Lifton,Shrikant Mane,Donna M. Martin,Chad A. Shaw,Michael Sheldon,Jay A. Tischfield,Christopher A. Walsh,Eric M. Morrow,David H. Ledbetter,Eric Fombonne,Catherine Lord,Christa Lese Martin,Andrew Brooks,James S. Sutcliffe,Edwin H. Cook,Daniel H. Geschwind,Kathryn Roeder,Bernie Devlin,Matthew W. State +66 more
TL;DR: A genome-wide analysis of rare copy-number variation in 1124 autism spectrum disorder families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling, finds significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome.
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
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
John D. Murdoch,Abha R. Gupta,Stephen Sanders,Stephen Sanders,Michael F. Walker,John F. Keaney,Thomas V. Fernandez,Michael T. Murtha,Samuel Anyanwu,Gordon T. Ober,Melanie J. Raubeson,Nicholas M. DiLullo,Natalie M. Villa,Zainabdul Waqar,Catherine Sullivan,Luis Gonzalez,A. Jeremy Willsey,A. Jeremy Willsey,So-Yeon Choe,Benjamin M. Neale,Benjamin M. Neale,Mark J. Daly,Mark J. Daly,Matthew W. State,Matthew W. State +24 more
TL;DR: Target next-generation sequencing of contactin-Associated Proteins and related gene families finds no evidence for statistically significant association of rare heterozygous mutations in any of the CNTn or CNTNAP genes, including C NTNAP2, placing marked limits on the scale of their plausible contribution to risk.