A. Hashem

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

F. Alkuraya, J. Majewski, F. Bernier, 2015, American journal of human genetics.

ANKS3 is mutated in a family with autosomal recessive laterality defect

F. Alkuraya, G. Walz, H. Shamseldin, 2016, Human Genetics.

Screening and Treatment Program to Eliminate Hepatitis C in Egypt.

I. Waked, G. Esmat, W. Doss, 2020, The New England journal of medicine.

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population

Ameen Softah, Sibtain Afzal, N. Al-Numair, 2019, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Tariq Ahmad Masoodi, F. Alkuraya, A. Alazami, 2013, Journal of Medical Genetics.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human 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.

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

F. Alkuraya, G. Abdel-Salam, R. Shaheen, 2016, Human Genetics.

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

F. Alkuraya, W. Kurdi, O. Khalifa, 2015, Genome Biology.

ADAT3‐related intellectual disability: Further delineation of the phenotype

F. Alkuraya, E. Faqeih, A. Alazami, 2016, American journal of medical genetics. Part A.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

F. Alkuraya, G. Abdel-Salam, R. Shaheen, 2016, Human Genetics.

Role of Centriolar Proteins in Skeletal Ciliopathies

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

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

M. State, F. Alkuraya, S. Arold, 2017, Molecular Psychiatry.