M. Iqbal

发表

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

S. Baig, P. Nürnberg, S. Tinschert, 2021, Genes.

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

M. U. Mirza, M. Froeyen, S. Khan, 2019, International journal of molecular sciences.

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

J. Vincent, J. Knowles, L. French, 2021, medRxiv.

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

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

A. El-Hattab, C. Beetz, Ruslan Al-Ali, 2022, Clinical genetics.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

S. Baig, N. Dahl, J. Wikström, 2017, European Journal of Human Genetics.

A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

L. Eichinger, A. Noegel, S. Baig, 2021, Clinical genetics.

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

A. Noegel, S. Baig, P. Nürnberg, 2020, Molecular genetics & genomic medicine.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

S. Baig, P. Nürnberg, J. Altmüller, 2021, Genes.