Brian J. O'Roak : rechercher sur Z-Library

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1

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

O’Roak, Brian J., Vives, Laura, Girirajan, Santhosh, Karakoc, Emre, Krumm, Niklas, Coe, Bradley P., Levy, Roie, Ko, Arthur, Lee, Choli, Smith, Joshua D., Turner, Emily H., Stanaway, Ian B., Vernot, Be

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 458 KB

english, 2012

2

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Ji, Weizhen, Foo, Jia Nee, O'Roak, Brian J, Zhao, Hongyu, Larson, Martin G, Simon, David B, Newton-Cheh, Christopher, State, Matthew W, Levy, Daniel, Lifton, Richard P

Journal:

Nature Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 327 KB

english, 2008

3

A de novo convergence of autism genetics and molecular neuroscience

Krumm, Niklas, O’Roak, Brian J., Shendure, Jay, Eichler, Evan E.

Journal:

Trends in Neurosciences

Année:

2014

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2014

4

A general framework for estimating the relative pathogenicity of human genetic variants

Kircher, Martin, Witten, Daniela M, Jain, Preti, O'Roak, Brian J, Cooper, Gregory M, Shendure, Jay

Journal:

Nature Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 649 KB

english, 2014

5

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O'Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Ra

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 964 KB

english, 2012

6

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

Barnard, Rebecca A., Pomaville, Matthew B., O'Roak, Brian J.

Journal:

Frontiers in Neuroscience

Année:

2015

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2015

7

Autism and attentionâdeficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1

Morotti, Hadley, Mastel, Sarah, Keller, Kory, Barnard, Rebecca A, Hall, Trevor, O'Roak, Brian J, Fombonne, Eric

Journal:

Developmental Medicine & Child Neurology

Année:

2020

Fichier:

PDF, 178 KB

2020

8

Autism questionnaire scores do not only rise because of autism

Fombonne, Eric, Morotti, Hadley, Mastel, Sarah, Keller, Kory, Barnard, Rebecca A, Hall, Trevor, OâRoak, Brian J

Journal:

Developmental Medicine & Child Neurology

Année:

2020

Fichier:

PDF, 59 KB

2020

9

Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette Syndrome

William C. Speed, Brian J. O'Roak, Zsanett Tárnok, Csaba Barta, Andrew J. Pakstis, Matthew W. State, Kenneth K. Kidd

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 162 KB

english, 2008

10

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthyl

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2012

11

Autism genetics: strategies, challenges, and opportunities

Brian J. O'Roak, Matthew W. State

Journal:

Autism Research

Année:

2008

Langue:

english

Fichier:

PDF, 307 KB

english, 2008

12

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

13

Estimating the human mutation rate using autozygosity in a founder population

Campbell, Catarina D, Chong, Jessica X, Malig, Maika, Ko, Arthur, Dumont, Beth L, Han, Lide, Vives, Laura, O'Roak, Brian J, Sudmant, Peter H, Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 696 KB

english, 2012

14

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

Betul Bakkaloglu, Brian J. O'Roak, Angeliki Louvi, Abha R. Gupta, Jesse F. Abelson, Thomas M. Morgan, Katarzyna Chawarska, Ami Klin, A. Gulhan Ercan-Sencicek, Althea A. Stillman, Gamze Tanriover, Bret

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2008

15

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl, Rieder, Mark J, Nickerson, Deb

Journal:

Nature Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 596 KB

english, 2011

16

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Carvill, Gemma L, Heavin, Sinéad B, Yendle, Simone C, McMahon, Jacinta M, O'Roak, Brian J, Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Ge

Journal:

Nature Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 380 KB

english, 2013

17

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O'Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Sama

Journal:

Nature Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 548 KB

english, 2013

18

Transmission Disequilibrium of Small CNVs in Simplex Autism

Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 873 KB

english, 2013

19

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

He, Zongxiao, O’Roak, Brian J., Smith, Joshua D., Wang, Gao, Hooker, Stanley, Santos-Cortez, Regie Lyn P., Li, Biao, Kan, Mengyuan, Krumm, Nik, Nickerson, Deborah A., Shendure, Jay, Eichler, Evan E.,

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 649 KB

english, 2014

20

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Ab

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 36 KB

english, 2014

21

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Ab

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 2.16 MB

english, 2014

22

The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, Ivan, O’Roak, Brian J., Sanders, Stephan J., Ronemus, Michael, Krumm, Niklas, Levy, Dan, Stessman, Holly A., Witherspoon, Kali T., Vives, Laura, Patterson, Karynne E., Smith, Joshua D., Paep

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.69 MB

english, 2014

23

De novo TBR1 mutations in sporadic autism disrupt protein functions

Deriziotis, Pelagia, O’Roak, Brian J., Graham, Sarah A., Estruch, Sara B., Dimitropoulou, Danai, Bernier, Raphael A., Gerdts, Jennifer, Shendure, Jay, Eichler, Evan E., Fisher, Simon E.

Journal:

Nature Communications

Année:

2014

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2014

24

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Nuttle, Xander, Huddleston, John, O'Roak, Brian J, Antonacci, Francesca, Fichera, Marco, Romano, Corrado, Shendure, Jay, Eichler, Evan E

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1019 KB

english, 2013

25

L-Histidine Decarboxylase and Tourette's Syndrome

Ercan-Sencicek, A. Gulhan, Stillman, Althea A., Ghosh, Ananda K., Bilguvar, Kaya, O'Roak, Brian J., Mason, Christopher E., Abbott, Thomas, Gupta, Abha, King, Robert A., Pauls, David L., Tischfield, Ja

Journal:

Boston Medical and Surgical Journal

Année:

2010

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2010

26

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Jansen, Laura A., Mirzaa, Ghayda M., Ishak, Gisele E., O'Roak, Brian J., Hiatt, Joseph B., Roden, William H., Gunter, Sonya A., Christian, Susan L., Collins, Sarah, Adams, Carissa, Rivière, Jean-Bapti

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2015

27

Detection of structural variants and indels within exome data

Karakoc, Emre, Alkan, Can, O'Roak, Brian J, Dennis, Megan Y, Vives, Laura, Mark, Kenneth, Rieder, Mark J, Nickerson, Debbie A, Eichler, Evan E

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 462 KB

english, 2011

28

Tagging Bloodmeals with Phagemids Allows Feeding of Multiple-Sample Arrays to Single Cages of Mosquitoes (Diptera: Culicidae) and the Recovery of Single Recombinant Antibody Fragment Genes from Individual Insects

Killeen, Gerry F., Foy, Brian D., Shahabuddin, Mohammed, Roake, Wendy, Williams, Andrew, Vaughan, Tristan J., Beier, John C.

Journal:

Journal of Medical Entomology

Année:

2000

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2000

29

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, O'Roak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Nev

Journal:

Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 681 KB

english, 2015

30

Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3

Guclu, Bulent, Ozturk, Ali K., Pricola, Katie L., Bilguvar, Kaya, Shin, Dana, O???Roak, Brian J., Gunel, Murat

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 548 KB

english, 2005

31

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 2.03 MB

english, 2017

32

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Mighell, Taylor L., Evans-Dutson, Sara, O’Roak, Brian J.

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2018

33

Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes

Beighley, Jennifer S., Hudac, Caitlin M., Arnett, Anne B., Peterson, Jessica L., Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Hoekzema, Kendra, Turner, Tychele N., O’Roak, Brian J., Eic

Journal:

Biological Psychiatry

Année:

2019

Langue:

english

Fichier:

PDF, 2.37 MB

english, 2019

34

Beliefs in vaccine as causes of autism among SPARK cohort caregivers

Fombonne, Eric, Goin-Kochel, Robin P., O'Roak, Brian J., Abbeduto, Leonard, Aberbach, Gabriella, Acampado, John, Ace, Andrea J., Albright, Charles, Alessandri, Michael, Amaral, David G., Amatya, Alpha

Journal:

Année:

2020

Fichier:

PDF, 564 KB

2020