Agaadir Almoisheer

发表

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

J. Shendure, Martin Kircher, R. Daza, 2015, Genetics in Medicine.

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

Anason S. Halees, F. Alkuraya, R. Shaheen, 2015, Human Genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus

F. Alkuraya, B. Keavney, J. Goodship, 2015, Journal of Medical Genetics.

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

F. Alkuraya, Y. Xiong, E. Faqeih, 2014, American journal of human genetics.

Identification of a novel MKS locus defined by TMEM107 mutation.

S. Kapoor, F. Alkuraya, E. Faqeih, 2015, Human molecular genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

F. Alkuraya, P. Beales, M. Schmidts, 2014, Human molecular genetics.

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

F. Alkuraya, R. Shaheen, Agaadir Almoisheer, 2014, Journal of Medical Genetics.

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

Anason S. Halees, F. Alkuraya, R. Shaheen, 2015, Human Genetics.

Role of Centriolar Proteins in Skeletal Ciliopathies

S. Arabia, F. Alkuraya, P. Beales, 2014 .

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

F. Alkuraya, R. Shaheen, Agaadir Almoisheer, 2014, Journal of Medical Genetics.