Concepedia

Priyanka Ahimaz

PA

Statistics

Publications

15

Citations

534

H-Index

12

Active since

2015

Affiliations

Columbia University Irving Medical Center(Current)

Columbia University

Inserm

Université Paris Cité

Cairo University

Priyanka Ahimaz is an author at Columbia University Irving Medical Center specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2015–2023

15

Publications

15

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Hsiang‐Chih Lu, Qiumin Tan, Maxime W.C. Rousseaux et al. · Nature Genetics · 2017 · 153 citations · Full text

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De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

Akemi Tanaka, Renkui Bai, Megan T. Cho et al. · Molecular Case Studies · 2015 · 66 citations · Full text

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Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Julia Wynn, Ruth Ottman, J. Duong et al. · Clinical Genetics · 2017 · 59 citations

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips et al. · Genetics in Medicine · 2022 · 35 citations · Full text

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Mythily Ganapathi, Loukas Argyriou, Susanne Morlot et al. · Human Genetics · 2020 · 31 citations · Full text

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