Mental Health Repository

JOURNAL PROFILE

Am J Hum Genet

Publications (10)

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Journal: Am J Hum Genet

Publication Year: 2016

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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

Journal: Am J Hum Genet

Publication Year: 2022

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Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

Journal: Am J Hum Genet

Publication Year: 2021

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Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability

Journal: Am J Hum Genet

Publication Year: 2014

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Journal: Am J Hum Genet

Publication Year: 2016

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Journal: Am J Hum Genet

Publication Year: 2020

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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Journal: Am J Hum Genet

Publication Year: 2019

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Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

Journal: Am J Hum Genet

Publication Year: 2021

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Journal: Am J Hum Genet

Publication Year: 2016

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Journal: Am J Hum Genet

Publication Year: 2020

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