Concepedia

Author

Sheraz Khan

Pakistan Institute of Engineering and Applied SciencesORCID

Also Known As

S. A. Khan, S. Khan, Sheraz Khan

21

Publications

200

Citations

9

H-Index

9

Concepts

All Affiliations

Pakistan Institute of Engineering and Applied SciencesNational Institute for Biotechnology and Genetic EngineeringAga Khan UniversityPakistan Science FoundationPir Mehr Ali Shah Arid Agriculture University
SK

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

39

2

Pathology

2

2

39

3

Clinical Genetics

2

2

39

4

Molecular Genetics

1

1

26

5

Obstetrics

1

1

26

Sheraz Khan

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8

Publications

123

Citations

8

H-Index

YearCitations

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

Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı,

Genetics in Medicine

2021

26

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,

Human Genetics

2021

26

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

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Calì,

Brain

2023

16

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

Shumaila Zulfiqar, Muhammad Tariq, Zafar Ali,

Journal of Clinical Neuroscience

2019

13

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

Shafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq,

Genes

2021

12

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal,

Genes

2021

10

A case of Bardet‑Biedl syndrome caused by a recurrent variant in<i>BBS12</i>: A case report

Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu,

Biomedical Reports

2021

10

Exome sequencing in a Romanian <scp>Bardet‐Biedl</scp> syndrome cohort revealed an overabundance of causal <scp><i>BBS12</i></scp> variants

Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu,

American Journal of Medical Genetics Part A

2023

10

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