Publications by authors named "Mais Hashem"

70Publications

Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.

Am J Med Genet A 2020 Nov 11. Epub 2020 Nov 11.

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.61957DOI Listing
November 2020

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

Am J Med Genet A 2020 Sep 19. Epub 2020 Sep 19.

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.61876DOI Listing
September 2020

The natural history of infantile neuroaxonal dystrophy.

Orphanet J Rare Dis 2020 05 1;15(1):109. Epub 2020 May 1.

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

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http://dx.doi.org/10.1186/s13023-020-01355-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193406PMC
May 2020

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

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.

Hum Mutat 2020 03 16;41(3):600-607. Epub 2020 Jan 16.

Department of Biology, Center for RNA Biology, University of Rochester, Rochester, New York.

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http://dx.doi.org/10.1002/humu.23976DOI 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

Warsaw breakage syndrome: Further clinical and genetic delineation.

Am J Med Genet A 2018 11 14;176(11):2404-2418. Epub 2018 Sep 14.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.40482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289708PMC
November 2018

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

Mutations of PTPN23 in developmental and epileptic encephalopathy.

Hum Genet 2017 11 31;136(11-12):1455-1461. Epub 2017 Oct 31.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-017-1850-3DOI Listing
November 2017

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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http://dx.doi.org/10.1016/j.ajhg.2017.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420357PMC
May 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

A lethal phenotype associated with tissue plasminogen deficiency in humans.

Hum Genet 2016 10 14;135(10):1209-11. Epub 2016 Jul 14.

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

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http://dx.doi.org/10.1007/s00439-016-1711-5DOI Listing
October 2016

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Orphanet J Rare Dis 2016 04 29;11(1):52. Epub 2016 Apr 29.

Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-04
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http://dx.doi.org/10.1186/s13023-016-0433-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685PMC
April 2016

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

Am J Hum Genet 2016 Apr 24;98(4):643-52. Epub 2016 Mar 24.

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. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833216PMC
April 2016

ADAT3-related intellectual disability: Further delineation of the phenotype.

Am J Med Genet A 2016 May 3;170A(5):1142-7. Epub 2016 Feb 3.

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37578DOI Listing
May 2016

Novel copy number variants and major limb reduction malformation: Report of three cases.

Am J Med Genet A 2016 May 8;170A(5):1245-50. Epub 2016 Jan 8.

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.37550DOI Listing
May 2016

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

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Am J Med Genet A 2012 Jan 21;158A(1):245-6. Epub 2011 Nov 21.

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

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http://doi.wiley.com/10.1002/ajmg.a.34347
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http://dx.doi.org/10.1002/ajmg.a.34347DOI Listing
January 2012

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

Nat Genet 2011 Oct 23;43(12):1186-8. Epub 2011 Oct 23.

Rheumatology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/ng.975DOI Listing
October 2011

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Ophthalmic Genet 2011 Sep 9;32(3):138-42. Epub 2011 Feb 9.

Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2010.544365DOI Listing
September 2011

Study of consanguineous populations can improve the annotation of SNP databases.

Eur J Med Genet 2011 Mar-Apr;54(2):118-20. Epub 2010 Oct 28.

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

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http://dx.doi.org/10.1016/j.ejmg.2010.10.009DOI Listing
August 2011