Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

Chunbo Yang, Yaobo Xu, Min Yu, +17

Human Molecular Genetics

Cardiac MuscleImpaired CardiogenesisAdult Stem CellCardiac Progenitor CellsCongenital Heart Anomaly +15

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, +7

Journal of the Neurological Sciences

Mendelian DisorderClpp GeneGenetic DisorderGeneticsNovel Missense Mutation +7

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Musharraf Jelani, Hannah C. Dooley, Andrea Gubaš, +12

Brain

MitophagyFamily MembersGeneticsPathologyMolecular Genetics +18

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Hussein Sheikh Ali Mohamoud, Saleem Ahmed, Musharraf Jelani, +6

Scientific Reports

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

Musharraf Jelani, Saleem Ahmed, Mona Mohammad Almramhi, +5

European Journal of Medical Genetics

Developmental AnomalyMendelian DisorderPtrf Gene UnderliesConsanguineous Saudi FamilyGenetic Disorder +6

First Comprehensive<i>In Silico</i>Analysis of the Functional and Structural Consequences of SNPs in Human<i>GalNAc-T1</i>Gene

Hussein Sheikh Ali Mohamoud, Muhammad Ramzan Manwar Hussain, Ashraf A. El‐Harouni, +8

Computational and Mathematical Methods in Medicine

GeneticsHuman PolymorphismMolecular BiologyGene CharacterizationMolecular Genetics +17

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

Fatma Dursun, Hussein Sheikh Ali Mohamoud, Noreen Karim, +3

Journal of Clinical Research in Pediatric Endocrinology

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationClinical Genetics +15

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

Musharraf Jelani, Changsoo Kang, Hussein Sheikh Ali Mohamoud, +7

Archives of Oral Biology

Consanguineous Saudi FamilyGeneticsPathogenesisPathologyGenomics +3

Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Musharraf Jelani, +6

BMC Research Notes

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Saleem Ahmed, +7

Journal of the Neurological Sciences

Primary MicrocephalyDevelopmental BiologyConsanguineous Saudi FamilySyndromic AutismGenetics +4