Evan E Eichler

Evan E Eichler

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Evan E Eichler

Publications by authors named "Evan E Eichler"

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Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.

Biol Psychiatry 2019 Aug 9;86(4):294-305. Epub 2019 May 9.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.04.029DOI Listing
August 2019

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.

Authors:
Evan E Eichler

N Engl J Med 2019 07;381(1):64-74

From the Department of Genome Sciences, University of Washington School of Medicine, and the Howard Hughes Medical Institute, University of Washington, Seattle.

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http://dx.doi.org/10.1056/NEJMra1809315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681822PMC
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.

N Engl J Med 2019 Apr;380(15):1421-1432

From the Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore (J.M.T., A.Y.L., T.N.T., M.X.S., S.C., A.K., K.-D.H.N., C.B., A.C.); the Department of Genome Sciences, University of Washington School of Medicine (T.N.T., N.K., A.K., B.P.C., E.E.E.), and the Howard Hughes Medical Institute, University of Washington (E.E.E.) - both in Seattle; and Broad Institute of Harvard and MIT, Cambridge, MA (K.-D.H.N., N.G., S.G.).

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http://dx.doi.org/10.1056/NEJMoa1706594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6596298PMC
April 2019

Multi-platform discovery of haplotype-resolved structural variation in human genomes.

Nat Commun 2019 04 16;10(1):1784. Epub 2019 Apr 16.

The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.

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http://www.nature.com/articles/s41467-018-08148-z
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http://dx.doi.org/10.1038/s41467-018-08148-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467913PMC
April 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.

Trends Neurosci 2019 02 15;42(2):115-127. Epub 2018 Dec 15.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382467PMC
February 2019

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution.

Cell 2019 Feb;176(4):743-756.e17

Department of Neurology, University of California, San Francisco (UCSF), San Francisco, CA, USA; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, UCSF, San Francisco, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544371PMC
February 2019

Long-read sequence and assembly of segmental duplications.

Nat Methods 2019 01 17;16(1):88-94. Epub 2018 Dec 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41592-018-0236-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382464PMC
January 2019

Characterizing the Major Structural Variant Alleles of the Human Genome.

Cell 2019 Jan 17;176(3):663-675.e19. Epub 2019 Jan 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183163
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http://dx.doi.org/10.1016/j.cell.2018.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438697PMC
January 2019

Transcriptional fates of human-specific segmental duplications in brain.

Genome Res 2018 10 18;28(10):1566-1576. Epub 2018 Sep 18.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1101/gr.237610.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169893PMC
October 2018

The autism spectrum phenotype in ADNP syndrome.

Autism Res 2018 09 14;11(9):1300-1310. Epub 2018 Aug 14.

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/aur.1980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203613PMC
September 2018

Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation.

Genome Res 2018 07 8;28(7):1029-1038. Epub 2018 Jun 8.

Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, California 95064, USA.

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http://dx.doi.org/10.1101/gr.233460.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028123PMC
July 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk.

J Child Psychol Psychiatry 2018 03 18;59(3):268-276. Epub 2017 Sep 18.

Department of Psychiatry, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1111/jcpp.12815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812799PMC
March 2018

Clinical phenotype of ASD-associated haploinsufficiency.

Mol Autism 2017 5;8:54. Epub 2017 Oct 5.

Department of Psychiatry and Behavioral Sciences, University of Washington, CHDD Box 357920, Seattle, WA 98195 USA.

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http://dx.doi.org/10.1186/s13229-017-0173-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629761PMC
February 2018

Prospective investigation of FOXP1 syndrome.

Mol Autism 2017 24;8:57. Epub 2017 Oct 24.

Department of Psychiatry, Department of Genetics and Genomic Sciences, Department of Neuroscience, Friedman Brain Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA.

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http://dx.doi.org/10.1186/s13229-017-0172-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655854PMC
February 2018

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Cell 2018 02;172(5):897-909.e21

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA 02129, USA; Departments of Psychiatry and Pathology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183015
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http://dx.doi.org/10.1016/j.cell.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831509PMC
February 2018

Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs).

Methods Mol Biol 2017 ;1492:95-106

Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE, S413C, Box 355065, Seattle, WA, 98195-5065, USA.

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http://dx.doi.org/10.1007/978-1-4939-6442-0_6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484527PMC
January 2018

Longitudinal report of child with de novo 16p11.2 triplication.

Clin Case Rep 2018 01 6;6(1):147-154. Epub 2017 Dec 6.

Department of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.

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http://dx.doi.org/10.1002/ccr3.1236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771938PMC
January 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.

Genome Med 2017 11 27;9(1):101. Epub 2017 Nov 27.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.

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https://genomemedicine.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s13073-017-0498-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704398PMC
November 2017

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Autism Res Treat 2017 8;2017:9371964. Epub 2017 Nov 8.

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 91895, USA.

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http://dx.doi.org/10.1155/2017/9371964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698792PMC
November 2017

Genomic Patterns of De Novo Mutation in Simplex Autism.

Cell 2017 Oct 28;171(3):710-722.e12. Epub 2017 Sep 28.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.08.047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679715PMC
October 2017

The Tea Tree Genome Provides Insights into Tea Flavor and Independent Evolution of Caffeine Biosynthesis.

Mol Plant 2017 06 2;10(6):866-877. Epub 2017 May 2.

Plant Germplasm and Genomics Center, Germplasm Bank of Wild Species in Southwestern China, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming 650201, China; Institution of Genomics and Bioinformatics, South China Agricultural University, Guangzhou 510642, China. Electronic address:

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http://dx.doi.org/10.1016/j.molp.2017.04.002DOI Listing
June 2017

The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity.

Sci Rep 2017 05 11;7(1):1806. Epub 2017 May 11.

Plant Germplasm and Genomics Center, Germplasm Bank of Wild Species in Southwestern China, Kunming Institute of Botany, the Chinese Academy of Sciences, Kunming, 650204, China.

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http://dx.doi.org/10.1038/s41598-017-01869-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432009PMC
May 2017

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.

J Neurodev Disord 2017 26;9:24. Epub 2017 May 26.

Department of Psychiatry and Behavioral Sciences, University of Washington, CHDD Box 357920, Seattle, WA 98195 USA.

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http://dx.doi.org/10.1186/s11689-017-9199-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446693PMC
May 2017

Resolving multicopy duplications using polyploid phasing.

Res Comput Mol Biol 2017 May 12;10229:117-133. Epub 2017 Apr 12.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1007/978-3-319-56970-3_8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553120PMC
May 2017

The birth of a human-specific neural gene by incomplete duplication and gene fusion.

Genome Biol 2017 03 9;18(1):49. Epub 2017 Mar 9.

Department of Genome Sciences, University of Washington School of Medicine, 3720 15 Ave NE, S413C, Box 355065, Seattle, WA, 98195-5065, USA.

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http://dx.doi.org/10.1186/s13059-017-1163-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345166PMC
March 2017

denovo-db: a compendium of human de novo variants.

Nucleic Acids Res 2017 01 5;45(D1):D804-D811. Epub 2016 Oct 5.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/nar/gkw865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210614PMC
January 2017

Discovery of large genomic inversions using long range information.

BMC Genomics 2017 01 10;18(1):65. Epub 2017 Jan 10.

Department of Computer Engineering, Bilkent University, Bilkent, 06800, Ankara, Turkey.

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http://dx.doi.org/10.1186/s12864-016-3444-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223412PMC
January 2017

Human adaptation and evolution by segmental duplication.

Curr Opin Genet Dev 2016 Dec 30;41:44-52. Epub 2016 Aug 30.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2016.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161654PMC
December 2016

Brain white matter structure and COMT gene are linked to second-language learning in adults.

Proc Natl Acad Sci U S A 2016 06 13;113(26):7249-54. Epub 2016 Jun 13.

Institute for Learning & Brain Sciences, University of Washington, Seattle, WA 98195;

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http://dx.doi.org/10.1073/pnas.1606602113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932981PMC
June 2016

Long-read sequence assembly of the gorilla genome.

Science 2016 Apr;352(6281):aae0344

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1126/science.aae0344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920363PMC
April 2016

An Incomplete Understanding of Human Genetic Variation.

Genetics 2016 Apr;202(4):1251-4

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195 Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195

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http://dx.doi.org/10.1534/genetics.115.180539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905539PMC
April 2016

Molecular subtyping and improved treatment of neurodevelopmental disease.

Genome Med 2016 Feb 25;8(1):22. Epub 2016 Feb 25.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.

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http://dx.doi.org/10.1186/s13073-016-0278-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766622PMC
February 2016

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Am J Hum Genet 2016 Jan 31;98(1):45-57. Epub 2015 Dec 31.

Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716684PMC
January 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

Bovine NK-lysin: Copy number variation and functional diversification.

Proc Natl Acad Sci U S A 2015 Dec 14;112(52):E7223-9. Epub 2015 Dec 14.

Department of Veterinary Pathobiology, College of Veterinary Medicine, Texas A&M University, College Station, TX 77843;

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http://dx.doi.org/10.1073/pnas.1519374113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702975PMC
December 2015

Genetic variation and the de novo assembly of human genomes.

Nat Rev Genet 2015 Nov 7;16(11):627-40. Epub 2015 Oct 7.

Department of Genome Sciences, University of Washington, Foege Building S-413A, Box 355065, 3720 15th Ave NE, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1038/nrg3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745987PMC
November 2015

An integrated map of structural variation in 2,504 human genomes.

Nature 2015 Oct;526(7571):75-81

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.

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http://dx.doi.org/10.1038/nature15394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617611PMC
October 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Excess of rare, inherited truncating mutations in autism.

Nat Genet 2015 Jun 11;47(6):582-8. Epub 2015 May 11.

1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449286PMC
June 2015

MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals.

Genome Res 2015 May 6;25(5):750-61. Epub 2015 Feb 6.

Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.182212.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417122PMC
May 2015

Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism".

Biol Psychiatry 2015 May 2;77(9):769-71. Epub 2015 Mar 2.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington; Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2015.02.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657856PMC
May 2015

Copy-number variation and false positive prenatal aneuploidy screening results.

N Engl J Med 2015 Apr 1;372(17):1639-45. Epub 2015 Apr 1.

From the Department of Genome Sciences (M.W.S., J.O.K., B.P.C., R.M.D., E.E.E., J.S.), Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology (L.E.S., J.M.H., H.S.G.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, and the Clinical Research Division, Fred Hutchinson Cancer Research Center (H.S.G.) - both in Seattle.

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http://dx.doi.org/10.1056/NEJMoa1408408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411081PMC
April 2015