Publications by authors named "Wafaa Eyaid"

56Publications

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

J Exp Med 2020 Dec;217(12)

Laboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, Institut National de la Santé et de la Recherche Médicale UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, Laboratory of Excellence TRANSPLANTEX, Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1084/jem.20192275DOI Listing
December 2020

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.

Ann Hum Genet 2020 09 13;84(5):370-379. Epub 2020 May 13.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/ahg.12385DOI Listing
September 2020

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.

Clin Genet 2020 Jul 17;98(1):80-85. Epub 2020 May 17.

Developmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.13756DOI Listing
July 2020

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

BMC Pediatr 2019 06 13;19(1):195. Epub 2019 Jun 13.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490 11426, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s12887-019-1571-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563377PMC
June 2019

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 07 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.008DOI Listing
July 2019

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

J Child Neurol 2018 10 17;33(11):713-717. Epub 2018 Jul 17.

1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/0883073818786157DOI Listing
October 2018

A new association between CDK5RAP2 microcephaly and congenital cataracts.

Ann Hum Genet 2018 05 22;82(3):165-170. Epub 2017 Dec 22.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/ahg.12232DOI Listing
May 2018

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical 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/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

JIMD Rep 2018 5;40:47-53. Epub 2017 Oct 5.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/8904_2017_58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122013PMC
October 2017

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

J Med Case Rep 2017 Sep 22;11(1):267. Epub 2017 Sep 22.

King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s13256-017-1420-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609014PMC
September 2017

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.

Hum Genome Var 2017 25;4:17018. Epub 2017 May 25.

Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/hgv.2017.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444338PMC
May 2017

A missense mutation in the gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

J Med Genet 2017 04 31;54(4):236-240. Epub 2017 Jan 31.

Department of Pediatrics, King Abdulaziz Medical City (KAMC)/Ministry of National Guard-Health Affairs (MNG-HA), King Abdullah International Medical Research Center (KAIMRC)/King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh , Saudi Arabia.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-104117
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http://dx.doi.org/10.1136/jmedgenet-2016-104117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502306PMC
April 2017

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

J Pediatr 2014 Mar 8;164(3):553-9.e1-2. Epub 2013 Dec 8.

Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476130137
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http://dx.doi.org/10.1016/j.jpeds.2013.10.082DOI Listing
March 2014

Mucolipidosis II: first report from Saudi Arabia.

Ann Saudi Med 2013 Jul-Aug;33(4):382-6

Dr. Majid Alfadhel . Pediatrics, King Abdulaziz Medical City, Sheikh Jabir Al Ahmed al Sabah Street, Al Rimayah, PO Box 22490, 1510 Riyadh 11426, Saudi Arabia .

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http://dx.doi.org/10.5144/0256-4947.2013.382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078501PMC
May 2014

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Am J Med Genet A 2013 Sep 29;161A(9):2244-9. Epub 2013 Jul 29.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36073DOI Listing
September 2013

Pulmonary manifestations in a patient with transaldolase deficiency.

JIMD Rep 2014 12;12:47-50. Epub 2013 Jul 12.

Department of Pediatrics MC 1510, King Abdulaziz Medical City, King Fahad National Guard Hospital, 22490, Riyadh, 11426, Saudi Arabia.

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http://dx.doi.org/10.1007/8904_2013_243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897798PMC
January 2014

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.

J Med Genet 2013 Jul 20;50(7):431-6. Epub 2013 Apr 20.

Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2013-101527DOI Listing
July 2013

Drug treatment of inborn errors of metabolism: a systematic review.

Arch Dis Child 2013 Jun 26;98(6):454-61. Epub 2013 Mar 26.

Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, PO Box 22490, Riyadh 11426, Saudi Arabia.

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http://dx.doi.org/10.1136/archdischild-2012-303131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693126PMC
June 2013

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

J Inherit Metab Dis 2013 Nov 12;36(6):997-1004. Epub 2013 Jan 12.

Department of Pediatrics, Genetics division, King AbdulAziz Medical City, Riyadh, Saudi Arabia,

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http://dx.doi.org/10.1007/s10545-012-9577-8DOI Listing
November 2013

Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?

Neurosciences (Riyadh) 2012 Jul;17(3):248-52

Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.

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July 2012

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.

Am J Med Genet A 2011 Mar 22;155A(3):599-604. Epub 2011 Feb 22.

Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.33717DOI Listing
March 2011

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Nat Genet 2010 Mar 31;42(3):245-9. Epub 2010 Jan 31.

[1] Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center and Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, USA. [2] These authors contributed equally to the work.

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http://dx.doi.org/10.1038/ng.526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835984PMC
March 2010

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Nat Genet 2008 Apr 9;40(4):443-8. Epub 2008 Mar 9.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733. N Broadway, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng.97DOI Listing
April 2008

Congenital duplication of the palm syndrome.

Ann Plast Surg 2007 Sep;59(3):341-3

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

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http://dx.doi.org/10.1097/01.sap.0000251486.89375.03DOI Listing
September 2007

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.

Nat Genet 2006 Oct 17;38(10):1192-7. Epub 2006 Sep 17.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng1876DOI Listing
October 2006

An inborn error of metabolism presenting as hypoxic-ischemic insult.

Pediatr Neurol 2005 Feb;32(2):134-6

Pediatrics Department, King Abdulaziz Medical City, King Fahad National Guard Hospital, PO Box 22490, Riyadh 11426, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.07.010DOI Listing
February 2005

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Am J Med Genet A 2005 Feb;133A(1):53-7

Howard Hughes Medical Institute and Department of Neurology Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.30487DOI Listing
February 2005

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Nat Genet 2004 Sep 22;36(9):1008-13. Epub 2004 Aug 22.

Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, NRB 266, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ng1419DOI Listing
September 2004

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Am J Hum Genet 2004 Jul 17;75(1):146-50. Epub 2004 May 17.

Institute of Microbiology, Swiss Federal Institute of Technology, Zurich, Switzerland.

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http://dx.doi.org/10.1086/422367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181998PMC
July 2004

Novel mutations in the TRIM37 gene in Mulibrey Nanism.

Hum Mutat 2004 May;23(5):522

The Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/humu.9233DOI Listing
May 2004

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Hum Genet 2003 Jul 3;113(1):1-9. Epub 2003 Apr 3.

McKusick-Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, MD 21287-3914, Baltimore, USA.

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http://link.springer.com/content/pdf/10.1007/s00439-003-0932
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http://link.springer.de/link/service/journals/00439/contents
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http://dx.doi.org/10.1007/s00439-003-0932-6DOI Listing
July 2003