Ehtisham ul Haq Makhdoom

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.

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.

Putative Roles of Plant-Derived Tannins in Neurodegenerative and Neuropsychiatry Disorders: An Updated Review

Tao Sun, M. Konuk, A. Imran, 2019, Molecules.

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

C. Becker, P. Nürnberg, H. Thiele, 2022, Genes.

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.

A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family

S. Baig, P. Nürnberg, J. Altmüller, 2021, American journal of medical genetics. Part A.

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

Sijie He, Jianguo Zhang, S. Baig, 2019, Journal of Clinical Neuroscience.

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.

Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families

S. Baig, H. Anwar, Ehtisham ul Haq Makhdoom, 2021, Pakistan Journal of Medical Sciences.

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability

M. Toft, M. Tariq, A. Fatima, 2023, Clinical genetics.