M. Al-Saffar

发表

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Eric M. Morrow, Annapurna Poduri, Fuki M. Hisama, 2013, Neuron.

Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene

J. Felie, M. Al-Saffar, T. Ben-Omran, 2011, American journal of medical genetics. Part A.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

S. Gabriel, C. Walsh, J. Ellison, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

Soher Balkhy, Christopher A. Walsh, Byoung-Il Bae, 2016, Cell.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

C. Walsh, A. Barkovich, S. Tinschert, 2010, American journal of human genetics.

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, Kidney international reports.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Michael E. Coulter, C. Walsh, C. Schubert, 2014, Human molecular genetics.

Reply to letter to the editor by Willatt—“Partial trisomy of 2p and neuroblastoma”

E. Lemyre, A. Duncan, M. Al-Saffar, 2001 .

Phenotype of a patient with pure partial trisomy 2p(p23-->pter).

E. Lemyre, A. Duncan, M. Al-Saffar, 2000, American journal of medical genetics.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Kristen M. Laricchia, Thomas M. Kitzler, Richard S. Lee, 2018, Journal of the American Society of Nephrology : JASN.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Michael E. Coulter, A. Barkovich, J. Stoler, 2015, American journal of human genetics.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

R. Deberardinis, D. Housman, A. Barkovich, 2016, Proceedings of the National Academy of Sciences.

Genetic Counseling in the Middle East

M. Al-Saffar, Shelley Kennedy, 2010 .

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

C. Walsh, P. Bauer, A. Barkovich, 2021, Genetics in Medicine.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

E. Tan, G. Mochida, M. Al-Saffar, 2021, European Journal of Human Genetics.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

S. Tinschert, G. Mochida, J. Partlow, 2010, American journal of human genetics.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.