Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population (Q93039415)

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scientific article published on 29 January 2020

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English	Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population	scientific article published on 29 January 2020

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3 May 2020

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population (English)

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3 May 2020

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3 May 2020

author name string

Youngha Lee

1

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Soojin Park

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3 May 2020

Jin Sook Lee

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Soo Yeon Kim

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Jaeso Cho

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Yongjin Yoo

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Sangmoon Lee

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Taekyeong Yoo

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Moses Lee

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Jieun Seo

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Jeongeun Lee

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Jana Kneissl

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Jean Lee

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Hyoungseok Jeon

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Eun Young Jeon

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Sung Eun Hong

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Eunha Kim

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Hyuna Kim

18

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Woo Joong Kim

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Jon Soo Kim

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Jung Min Ko

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Anna Cho

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Byung Chan Lim

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Won Seop Kim

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Jong-Hee Chae

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29 January 2020

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Scientific Reports

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10

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1

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3 May 2020

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

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Recessive gene disruptions in autism spectrum disorder

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Carrier screening for recessive disorders

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

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Quantifying the contribution of recessive coding variation to developmental disorders

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

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Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy

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Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

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Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

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GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

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3 May 2020

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3 May 2020

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