Shazia Maqbool

Assistant Professor · Children's Hospital of Michigan

Credentials: · ·

History

Children's Hospital of Michigan
Present

Emergency Medicine
1985–1988
Doctor of Medicine
1981–1985

Research

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Brain · 2021 · 47 citations
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
The American Journal of Human Genetics · 2020 · 33 citations
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications · 2023 · 22 citations

FA
Fowzan Alkuraya
8 papers
Joseph Gleeson
7 papers
James Lupski
4 papers
Jennifer Posey
3 papers
JH
Jill Hunter
3 papers
Wendy Chung
3 papers
Amy Armstrong-Javors
2 papers
Daniel Calame
2 papers · 2 as a fellow
Davut Pehlivan
2 papers · 2 as a resident
FH
Frances High
2 papers
Lance Rodan
2 papers
Michael Kruer
2 papers