Publications by authors named "Hanan E Shamseldin"

54Publications

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita.

JAAD Case Rep 2020 Sep 11;6(9):882-885. Epub 2020 Jul 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2020.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7452181PMC
September 2020

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13699DOI Listing
April 2020

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-01979-wDOI Listing
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420357PMC
May 2017

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

Hum Genet 2017 01 12;136(1):99-105. Epub 2016 Nov 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1741-zDOI Listing
January 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.

View Article

Download full-text PDF

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

Joint laxity in homozygotes for severe POU1F1 mutations.

Am J Med Genet A 2016 Dec 19;170(12):3356-3358. Epub 2016 Aug 19.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37941
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37941DOI Listing
December 2016

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.

View Article

Download full-text PDF

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

ANKS3 is mutated in a family with autosomal recessive laterality defect.

Hum Genet 2016 Nov 14;135(11):1233-1239. Epub 2016 Jul 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1712-4DOI Listing
November 2016

A null mutation in TNIK defines a novel locus for intellectual disability.

Hum Genet 2016 07 22;135(7):773-8. Epub 2016 Apr 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1671-9DOI Listing
July 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37550DOI Listing
May 2016

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

Hum Genet 2016 Feb 7;135(2):245-251. Epub 2016 Jan 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-015-1632-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975006PMC
February 2016

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Am J Hum Genet 2016 Jan 17;98(1):210-5. Epub 2015 Dec 17.

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:

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2041209479/2055059602/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500484
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716667PMC
January 2016

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Hum Genet 2016 Jan 5;135(1):21-30. Epub 2015 Nov 5.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-015-1608-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900140PMC
January 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:

View Article

Download full-text PDF

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

A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.

J Med Genet 2014 Apr 13;51(4):271-4. Epub 2014 Jan 13.

Division of Nephrology, Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2013-102085DOI Listing
April 2014

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.

Blood 2013 Nov;122(23):3844-5

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2013-09-527127DOI Listing
November 2013

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Am J Hum Genet 2013 Sep 22;93(3):555-60. Epub 2013 Aug 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769930PMC
September 2013

Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.

Am J Med Genet A 2013 Jul 17;161A(7):1579-84. Epub 2013 May 17.

Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35956DOI Listing
July 2013

Autozygosity mapping with exome sequence data.

Hum Mutat 2013 Jan 22;34(1):50-6. Epub 2012 Oct 22.

School of Medicine, University of Leeds, Leeds, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22220DOI Listing
January 2013

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing.

Genet Med 2013 Apr 4;15(4):307-9. Epub 2012 Oct 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908556PMC
April 2013

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.

J Med Genet 2012 Mar 9;49(3):184-6. Epub 2012 Jan 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2011-100585DOI Listing
March 2012

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

J Med Genet 2012 Jan 25;49(1):16-20. Epub 2011 Nov 25.

Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, Riyad 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/content/49/1/16.full.pdf
Web Search
http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100556
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2011-100556DOI Listing
January 2012

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.

View Article

Download full-text PDF

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

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.

Am J Med Genet A 2010 Jul;152A(7):1841-3

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33123DOI Listing
July 2010