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

Turner, Tychele N. ; Eichler, Evan E.

Trends in neurosciences (Regular ed.), 2019-02, Vol.42 (2), p.115-127 [Periódico revisado por pares]

England: Elsevier Ltd

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Prioritization of neurodevelopmental disease genes by discovery of new mutations
Prioritization of neurodevelopmental disease genes by discovery of new mutations
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Prioritization of neurodevelopmental disease genes by discovery of new mutations

Hoischen, Alexander ; Krumm, Niklas ; Eichler, Evan E

Nature neuroscience, 2014-06, Vol.17 (6), p.764-772 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Jacquemont, Sébastien ; Coe, Bradley P. ; Hersch, Micha ; Duyzend, Michael H. ; Krumm, Niklas ; Bergmann, Sven ; Beckmann, Jacques S. ; Rosenfeld, Jill A. ; Eichler, Evan E.

American journal of human genetics, 2014-03, Vol.94 (3), p.415-425 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Excess of rare, inherited truncating mutations in autism
Excess of rare, inherited truncating mutations in autism
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Excess of rare, inherited truncating mutations in autism

Krumm, Niklas ; Turner, Tychele N ; Baker, Carl ; Vives, Laura ; Mohajeri, Kiana ; Witherspoon, Kali ; Raja, Archana ; Coe, Bradley P ; Stessman, Holly A ; He, Zong-Xiao ; Leal, Suzanne M ; Bernier, Raphael ; Eichler, Evan E

Nature genetics, 2015-06, Vol.47 (6), p.582-588 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
A de novo convergence of autism genetics and molecular neuroscience
A de novo convergence of autism genetics and molecular neuroscience
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A de novo convergence of autism genetics and molecular neuroscience

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

Trends in neurosciences (Regular ed.), 2014-02, Vol.37 (2), p.95-105 [Periódico revisado por pares]

England: Elsevier Ltd

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6
Genomic Patterns of De Novo Mutation in Simplex Autism
Genomic Patterns of De Novo Mutation in Simplex Autism
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Genomic Patterns of De Novo Mutation in Simplex Autism

Turner, Tychele N. ; Coe, Bradley P. ; Dickel, Diane E. ; Hoekzema, Kendra ; Nelson, Bradley J. ; Zody, Michael C. ; Kronenberg, Zev N. ; Hormozdiari, Fereydoun ; Raja, Archana ; Pennacchio, Len A. ; Darnell, Robert B. ; Eichler, Evan E.

Cell, 2017-10, Vol.171 (3), p.710-722.e12 [Periódico revisado por pares]

United States: Elsevier Inc

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7
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
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De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Veeramah, Krishna R. ; O'Brien, Janelle E. ; Meisler, Miriam H. ; Cheng, Xiaoyang ; Dib-Hajj, Sulayman D. ; Waxman, Stephen G. ; Talwar, Dinesh ; Girirajan, Santhosh ; Eichler, Evan E. ; Restifo, Linda L. ; Erickson, Robert P. ; Hammer, Michael F.

American journal of human genetics, 2012-03, Vol.90 (3), p.502-510 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Mefford, Heather C ; Muhle, Hiltrud ; Ostertag, Philipp ; von Spiczak, Sarah ; Buysse, Karen ; Baker, Carl ; Franke, Andre ; Malafosse, Alain ; Genton, Pierre ; Thomas, Pierre ; Gurnett, Christina A ; Schreiber, Stefan ; Bassuk, Alexander G ; Guipponi, Michel ; Stephani, Ulrich ; Helbig, Ingo ; Eichler, Evan E Frankel, Wayne N.

PLoS genetics, 2010-05, Vol.6 (5), p.e1000962-e1000962 [Periódico revisado por pares]

United States: Public Library of Science

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9
Rare variants and the oligogenic architecture of autism
Rare variants and the oligogenic architecture of autism
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Rare variants and the oligogenic architecture of autism

Wang, Tianyun ; Zhao, Peiyao A. ; Eichler, Evan E.

Trends in genetics, 2022-09, Vol.38 (9), p.895-903 [Periódico revisado por pares]

England: Elsevier Ltd

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10
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
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Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Girirajan, Santhosh ; Brkanac, Zoran ; Coe, Bradley P ; Baker, Carl ; Vives, Laura ; Vu, Tiffany H ; Shafer, Neil ; Bernier, Raphael ; Ferrero, Giovanni B ; Silengo, Margherita ; Warren, Stephen T ; Moreno, Carlos S ; Fichera, Marco ; Romano, Corrado ; Raskind, Wendy H ; Eichler, Evan E Orr, Harry T.

PLoS genetics, 2011-11, Vol.7 (11), p.e1002334 [Periódico revisado por pares]

United States: Public Library of Science

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