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Anushree Acharya

Baylor College of Medicine
Columbia University Medical Center

32

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230

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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

2021 Journal of Human Genetics
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Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

2021 Journal of Human Genetics
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Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome that Includes Left Ventricle Diastolic Dysfunction

2021 Genes
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Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

2021 Journal of Medical Genetics
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Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

2021 Human Genetics
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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

2021 Human Genetics
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ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.

2021 European Journal of Human Genetics
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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

2020 Genes
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Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.

2020 Annals of clinical and translational neurology
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Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

2020 Experimental and Molecular Pathology
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