M. Jameel

发表

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

F. Alkuraya, A. Noegel, S. Baig, 2017, Annals of neurology.

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.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

S. Baig, N. Dahl, M. Tariq, 2012, BMC Medical Genetics.

&bgr;-Thalassemia in Pakistan: A Pilot Program on Prenatal Diagnosis in Multan

S. Bakhtiar, S. M. Saqlan Naqvi, M. Rahim, 2012, Journal of pediatric hematology/oncology.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

A. Noegel, P. Frommolt, S. Baig, 2013, Human molecular genetics.

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.

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

S. Baig, K. Mäbert, N. Dahl, 2015, Journal of Medical Genetics.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Victoria E. Jackson, I. Scheffer, T. Strom, 2019, Genetics in Medicine.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

S. Baig, S. Milatz, J. Piontek, 2017, PLoS genetics.

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

S. Baig, N. Dahl, T. Lönnerholm, 2018, Clinical 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.

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees

S. Baig, A. Crosby, B. Chioza, 2021, American journal of medical genetics. Part A.

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

S. Baig, R. Raininko, N. Dahl, 2014, BMC Medical Genetics.

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

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

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans

J. Erdmann, S. Baig, R. Hartig, 2023, Scientific reports.