M. Alshammari

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.

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

F. Alkuraya, R. Shaheen, W. Eyaid, 2013, Journal of Medical Genetics.

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

F. Alkuraya, G. Repetto, M. Salih, 2012, Journal of Medical Genetics.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Mohamed Abouelhoda, Yong Xiong, Fowzan S Alkuraya, 2015, Cell reports.

Confirming the candidacy of THOC6 in the etiology of intellectual disability

F. Alkuraya, S. Anazi, M. Abouelhoda, 2016, American journal of medical genetics. Part A.

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

F. Alkuraya, C. Farra, E. Faqeih, 2012, European Journal of Human Genetics.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

F. Alkuraya, E. Faqeih, A. Alazami, 2012, Journal of Medical Genetics.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

J. Shendure, Martin Kircher, R. Daza, 2016, Human Genetics.

Weaver syndrome and defective cortical development: A rare association

F. Alkuraya, H. Hassan, A. Alazami, 2013, American journal of medical genetics. Part A.

Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?

F. Alkuraya, F. Alzahrani, M. Alshammari, 2012, Gene.

NPHP4 mutation is linked to cerebello‐oculo‐renal syndrome and male infertility

H. Hassan, A. Alazami, M. Baig, 2014, Clinical genetics.

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

F. Alkuraya, M. Aldahmesh, M. Alshammari, 2013, American journal of human genetics.

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

F. Alkuraya, E. Faqeih, M. Alshammari, 2013, American journal of human genetics.

PMEL is mutated in oculocutaneous albinism

F. Alkuraya, Arif O. Khan, M. Alshammari, 2022, Human Genetics.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, The Journal of clinical investigation.

Global transcriptional disturbances underlie

Khalid Al Rubeaan, J. Lupski, R. Gibbs, 2018 .

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

Fowzan S Alkuraya, F. Alkuraya, Arif O. Khan, 2013, Human mutation.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

J. Shendure, Martin Kircher, R. Daza, 2016, Human Genetics.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

Molecular characterization of Joubert syndrome in Saudi Arabia

F. Alkuraya, A. Alazami, Arif O. Khan, 2012, Human mutation.

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Salil A. Lachke, Deepti Anand, Fowzan S. Alkuraya, 2016, Human Genetics.

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

Nancy T. Malintan, N. Wood, A. Chiriță-Emandi, 2019, European journal of neurology.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

F. Alkuraya, S. Megason, E. Faqeih, 2012, American journal of human genetics.

Mutations in TMEM231 cause Meckel–Gruber syndrome

F. Alkuraya, R. Shaheen, M. Alshammari, 2013, Journal of Medical Genetics.

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

F. Alkuraya, M. Alshammari, L. Al-Otaibi, 2012, Journal of Medical Genetics.

Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome

F. Alkuraya, E. Elgamal, N. Adly, 2014, Clinical genetics.

The clinical utility of rapid exome sequencing in a consanguineous population

M. Temsah, F. Alkuraya, E. Faqeih, 2023, Genome Medicine.

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

F. Alkuraya, M. Alshammari, M. Al-shammari, 2011, Clinical genetics.

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

F. Alkuraya, M. Alshammari, Mohammed A. Aldahmesh, 2013, American journal of human genetics.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

M. Temsah, F. Alkuraya, Y. Xiong, 2015, Cell reports.