H
Holly A.F. Stessman
Researcher at Creighton University
Publications - 57
Citations - 6446
Holly A.F. Stessman is an academic researcher from Creighton University. The author has contributed to research in topics: Bortezomib & Autism. The author has an hindex of 22, co-authored 51 publications receiving 5113 citations. Previous affiliations of Holly A.F. Stessman include University of Minnesota & University of Washington.
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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
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier,Christelle Golzio,Bo Xiong,Holly A.F. Stessman,Bradley P. Coe,Osnat Penn,Kali Witherspoon,Jennifer Gerdts,Carl Baker,Anneke T. Vulto-van Silfhout,Janneke H M Schuurs-Hoeijmakers,Marco Fichera,Paolo Bosco,Serafino Buono,Antonino Alberti,Pinella Failla,Hilde Peeters,Jean Steyaert,Jean Steyaert,Lisenka E.L.M. Vissers,Ludmila Francescatto,Heather C Mefford,Jill A. Rosenfeld,Trygve E. Bakken,Brian J. O'Roak,Matthew R. Pawlus,Randall T. Moon,Randall T. Moon,Jay Shendure,David G. Amaral,Ed S. Lein,Julia Rankin,Corrado Romano,Bert B.A. de Vries,Nicholas Katsanis,Evan E. Eichler,Evan E. Eichler +36 more
TL;DR: It is indicated that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
Journal ArticleDOI
Excess of rare, inherited truncating mutations in autism.
Niklas Krumm,Tychele N. Turner,Carl Baker,Laura Vives,Kiana Mohajeri,Kali Witherspoon,Archana Raja,Bradley P. Coe,Holly A.F. Stessman,Zong Xiao He,Suzanne M. Leal,Raphael Bernier,Evan E. Eichler +12 more
TL;DR: This analysis identifies a second class of candidate genes (for example, RIMS1, CUL7 and LZTR1) where transmitted mutations may create a sensitized background but are unlikely to be completely penetrant, and private truncating SNVs and rare, inherited CNVs are statistically independent risk factors for autism.
Journal ArticleDOI
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A.F. Stessman,Bo Xiong,Bo Xiong,Bradley P. Coe,Tianyun Wang,Kendra Hoekzema,Kendra Hoekzema,Michaela Fenckova,Malin Kvarnung,Jennifer Gerdts,Sandy Trinh,Nele Cosemans,Laura Vives,Janice Lin,Tychele N. Turner,Gijs W. E. Santen,Claudia A. L. Ruivenkamp,Marjolein Kriek,Arie van Haeringen,Emmelien Aten,Kathryn Friend,Kathryn Friend,Jan Liebelt,Christopher Barnett,Eric Haan,Eric Haan,Marie Shaw,Jozef Gecz,Jozef Gecz,Jozef Gecz,Britt-Marie Anderlid,Ann Nordgren,Anna Lindstrand,Charles E. Schwartz,R. Frank Kooy,Geert Vandeweyer,Céline Helsmoortel,Corrado Romano,Antonino Alberti,Mirella Vinci,Emanuela Avola,Stefania Giusto,Eric Courchesne,Tiziano Pramparo,Karen Pierce,Srinivasa Nalabolu,David G. Amaral,Ingrid E. Scheffer,Ingrid E. Scheffer,Martin B. Delatycki,Paul J. Lockhart,Fereydoun Hormozdiari,Benjamin Harich,Anna Castells-Nobau,Kun Xia,Hilde Peeters,Magnus Nordenskjöld,Annette Schenck,Raphael Bernier,Evan E. Eichler,Evan E. Eichler +60 more
TL;DR: Twenty-five genes showing a bias for autism versus intellectual disability and a network associated with high-functioning autism are highlighted, and clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
Journal ArticleDOI
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
Brian J. O'Roak,Holly A.F. Stessman,Evan A. Boyle,Kali Witherspoon,Benjamin L. Martin,Craig M. Lee,Laura Vives,Carl Baker,Joseph B. Hiatt,Deborah A. Nickerson,Raphael Bernier,Jay Shendure,Evan E. Eichler +12 more
TL;DR: The resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals shows that mutation carriers generally have lower IQs and enrichment for seizures, and begins to distinguish genetically distinct subtypes of autism important for etiological classification and future therapeutics.