Mohamed Wafik
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: September 05, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: Nature genetics
Published: August 21, 2025
Prenatal detection of copy number variants.
Journal: Best practice & research. Clinical obstetrics & gynaecology
Published: April 30, 2024
Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: UK joint consensus guidance.
Journal: BJOG : an international journal of obstetrics and gynaecology
Published: February 14, 2023
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 21, 2020
HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.
Journal: Clinical dysmorphology
Published: June 05, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 09, 2018
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.
Journal: European journal of medical genetics
Published: August 15, 2017
Achalasia-microcephaly syndrome: a further case report.
Journal: Clinical dysmorphology
Published: May 05, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026