Publications by authors named "Niema Ibrahim"

46Publications

A genomics approach to females with infertility and recurrent pregnancy loss.

Hum Genet 2020 May 14;139(5):605-613. Epub 2020 Mar 14.

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

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http://dx.doi.org/10.1007/s00439-020-02143-5DOI Listing
May 2020

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Hum Genet 2020 May 3;139(5):615-622. Epub 2020 Mar 3.

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

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http://dx.doi.org/10.1007/s00439-020-02144-4DOI Listing
May 2020

A de novo mutation in FMR1 in a patient with intellectual disability.

Eur J Med Genet 2020 Mar 10;63(3):103763. Epub 2019 Sep 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103763DOI Listing
March 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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http://dx.doi.org/10.1016/j.ajhg.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451727PMC
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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http://dx.doi.org/10.1007/s00439-019-01979-wDOI Listing
March 2019

Congenital glaucoma and CYP1B1: an old story revisited.

Hum Genet 2019 Sep 19;138(8-9):1043-1049. Epub 2018 Mar 19.

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

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http://dx.doi.org/10.1007/s00439-018-1878-zDOI Listing
September 2019

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

Am J Hum Genet 2017 Oct 28;101(4):603-608. Epub 2017 Sep 28.

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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https://linkinghub.elsevier.com/retrieve/pii/S00029297173033
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http://dx.doi.org/10.1016/j.ajhg.2017.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630161PMC
October 2017

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.

Genet Med 2017 05 6;19(5):593-598. Epub 2016 Oct 6.

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

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http://www.nature.com/doifinder/10.1038/gim.2016.155
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http://dx.doi.org/10.1038/gim.2016.155DOI Listing
May 2017

Confirming the candidacy of THOC6 in the etiology of intellectual disability.

Am J Med Genet A 2016 May 6;170A(5):1367-9. Epub 2016 Jan 6.

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

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http://dx.doi.org/10.1002/ajmg.a.37549DOI Listing
May 2016

Identification of a novel MKS locus defined by TMEM107 mutation.

Hum Mol Genet 2015 Sep 29;24(18):5211-8. Epub 2015 Jun 29.

Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddv242DOI Listing
September 2015

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

J Med Genet 2015 May 23;52(5):322-9. Epub 2015 Feb 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2015-102992DOI Listing
May 2015

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

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

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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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles.

Gut 2014 11 21;63(11):1831-2. Epub 2014 Aug 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/gutjnl-2014-307859DOI Listing
November 2014

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

Am J Hum Genet 2013 Jan 3;92(1):157-61. Epub 2013 Jan 3.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542464PMC
January 2013