Publications by authors named "Eman AlObeid"

14Publications

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Clin Genet 2020 04 12;97(4):661-665. Epub 2020 Jan 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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April 2020

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Am J Hum Genet 2019 04 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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April 2019

NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

Hum Genet 2019 Mar 13;138(3):221-229. Epub 2019 Feb 13.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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March 2019

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Am J Hum Genet 2017 May;100(5):831-836

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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May 2017

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

Hum Genet 2016 07 7;135(7):707-13. Epub 2016 Apr 7.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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July 2016