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Estimates of penetrance for recurrent pathogenic copy-number variations
Estimates of penetrance for recurrent pathogenic copy-number variations
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Estimates of penetrance for recurrent pathogenic copy-number variations

Rosenfeld, Jill A. ; Coe, Bradley P. ; Eichler, Evan E. ; Cuckle, Howard ; Shaffer, Lisa G.

Genetics in medicine, 2013-06, Vol.15 (6), p.478-481 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Wilfert, Amy B ; Sulovari, Arvis ; Turner, Tychele N ; Coe, Bradley P ; Eichler, Evan E

Genome medicine, 2017-11, Vol.9 (1), p.101-101, Article 101 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Applications of long-read sequencing to Mendelian genetics
Applications of long-read sequencing to Mendelian genetics
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Applications of long-read sequencing to Mendelian genetics

Mastrorosa, Francesco Kumara ; Miller, Danny E ; Eichler, Evan E

Genome medicine, 2023-06, Vol.15 (1), p.42-42, Article 42 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog
A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog
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A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog

Nicholas, Thomas J ; Baker, Carl ; Eichler, Evan E ; Akey, Joshua M

BMC genomics, 2011-08, Vol.12 (1), p.414-414, Article 414 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Characterization of large-scale genomic differences in the first complete human genome
Characterization of large-scale genomic differences in the first complete human genome
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Characterization of large-scale genomic differences in the first complete human genome

Yang, Xiangyu ; Wang, Xuankai ; Zou, Yawen ; Zhang, Shilong ; Xia, Manying ; Fu, Lianting ; Vollger, Mitchell R ; Chen, Nae-Chyun ; Taylor, Dylan J ; Harvey, William T ; Logsdon, Glennis A ; Meng, Dan ; Shi, Junfeng ; McCoy, Rajiv C ; Schatz, Michael C ; Li, Weidong ; Eichler, Evan E ; Lu, Qing ; Mao, Yafei

Genome Biology, 2023-07, Vol.24 (1), p.157-157, Article 157 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
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Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Guo, Hui ; Duyzend, Michael H. ; Coe, Bradley P. ; Baker, Carl ; Hoekzema, Kendra ; Gerdts, Jennifer ; Turner, Tychele N. ; Zody, Michael C. ; Beighley, Jennifer S. ; Murali, Shwetha C. ; Nelson, Bradley J. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Bernier, Raphael A. ; Eichler, Evan E.

Genetics in medicine, 2019-07, Vol.21 (7), p.1611-1620 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Inversion polymorphism in a complete human genome assembly
Inversion polymorphism in a complete human genome assembly
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Inversion polymorphism in a complete human genome assembly

Porubsky, David ; Harvey, William T ; Rozanski, Allison N ; Ebler, Jana ; Höps, Wolfram ; Ashraf, Hufsah ; Hasenfeld, Patrick ; Paten, Benedict ; Sanders, Ashley D ; Marschall, Tobias ; Korbel, Jan O ; Eichler, Evan E

Genome Biology, 2023-04, Vol.24 (1), p.100-16, Article 100 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Guo, Hui ; Wang, Tianyun ; Wu, Huidan ; Long, Min ; Coe, Bradley P ; Li, Honghui ; Xun, Guanglei ; Ou, Jianjun ; Chen, Biyuan ; Duan, Guiqin ; Bai, Ting ; Zhao, Ningxia ; Shen, Yidong ; Li, Yun ; Wang, Yazhe ; Zhang, Yu ; Baker, Carl ; Liu, Yanling ; Pang, Nan ; Huang, Lian ; Han, Lin ; Jia, Xiangbin ; Liu, Cenying ; Ni, Hailun ; Yang, Xinyi ; Xia, Lu ; Chen, Jingjing ; Shen, Lu ; Li, Ying ; Zhao, Rongjuan ; Zhao, Wenjing ; Peng, Jing ; Pan, Qian ; Long, Zhigao ; Su, Wei ; Tan, Jieqiong ; Du, Xiaogang ; Ke, Xiaoyan ; Yao, Meiling ; Hu, Zhengmao ; Zou, Xiaobing ; Zhao, Jingping ; Bernier, Raphael A ; Eichler, Evan E ; Xia, Kun

Molecular autism, 2018-12, Vol.9 (1), p.64-64, Article 64 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
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Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders

Arnett, Anne B ; Wang, Tianyun ; Eichler, Evan E ; Bernier, Raphael A

Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.1-24, Article 24 [Periódico revisado por pares]

London: BioMed Central Ltd

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10
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability
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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability

Hudac, Caitlin M. ; Friedman, Nicole R. ; Ward, Victoria R. ; Estreicher, Rachel E. ; Dorsey, Grace C. ; Bernier, Raphael A. ; Kurtz-Nelson, Evangeline C. ; Earl, Rachel K. ; Eichler, Evan E. ; Neuhaus, Emily

Journal of autism and developmental disorders, 2024-06, Vol.54 (6), p.2386-2401 [Periódico revisado por pares]

New York: Springer US

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