Publications by authors named "Ahmed Alfares"

26Publications

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Clin Genet 2020 Dec 15;98(6):555-561. Epub 2020 Sep 15.

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

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December 2020

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation.

Front Genet 2019 5;10:534. Epub 2019 Jun 5.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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June 2019

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Neurogenetics 2019 05 10;20(2):109-115. Epub 2019 Apr 10.

King Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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May 2019

Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.

Authors:
Ahmed A Alfares

Int J Health Sci (Qassim) 2018 Sep-Oct;12(5):35-43

Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.

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September 2018

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Eur J Med Genet 2019 Apr 31;62(4):254-258. Epub 2018 Jul 31.

Division of Nephrology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada. Electronic address:

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April 2019

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

Am J Med Genet A 2018 07 7;176(7):1602-1609. Epub 2018 May 7.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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July 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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May 2018

Peeling skin syndrome associated with novel variant in FLG2 gene.

Am J Med Genet A 2017 Dec 8;173(12):3201-3204. Epub 2017 Sep 8.

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

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December 2017

Diabetic ketoacidosis in vanishing white matter.

Clin Case Rep 2016 08 17;4(8):717-20. Epub 2016 Jun 17.

Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia; Department of Pediatrics College of Medicine Qassim University Almulyda Saudi Arabia.

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August 2016

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Am J Med Genet A 2011 Aug 7;155A(8):1987-90. Epub 2011 Jul 7.

Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada.

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August 2011