Sheraz Khan

Statistics

Publications

Citations

136

H-Index

Active since

2019

Affiliations

Pakistan Institute of Engineering and Applied Sciences(Current)

National Institute for Biotechnology and Genetic Engineering

Aga Khan University

Pakistan Science Foundation

Pir Mehr Ali Shah Arid Agriculture University

Sheraz Khan is an author at Pakistan Institute of Engineering and Applied Sciences specializing in genetics, medical genetics, and molecular genetics.

ORCID

Publications per year

2019–2023

Publications

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

Farid Ullah, Waqar Rauf, Kamal Khan et al. · Human Genetics · 2021 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi et al. · Genetics in Medicine · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Calì et al. · Brain · 2023 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Shumaila Zulfiqar, Muhammad Tariq, Zafar Ali et al. · Journal of Clinical Neuroscience · 2019 · 14 citations

Life Sciences, Genetics, Molecular Genetics +9

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family

Shafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq et al. · Genes · 2021 · 12 citations · Full text

Medicine, Cardiology, Genetics +16

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