Hanan A. Hamamy

Geneve, GE, Switzerland

Last Updated: 09/26/2026

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Found 44 publications

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.

Journal: Clinical neurology and neurosurgery

Published: January 13, 2023

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

Journal: Nature genetics

Published: January 22, 2022

Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system.

Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system.

Journal: Stem cell research

Published: November 26, 2021

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Journal: Nature communications

Published: July 19, 2020

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 19, 2020

Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction.

Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction.

Journal: Cardiovascular research

Published: October 07, 2019

Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.

Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.

Journal: Clinical neurology and neurosurgery

Published: October 14, 2018

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Journal: Human mutation

Published: July 26, 2018

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

Journal: Journal of community genetics

Published: March 21, 2018

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Journal: Journal of community genetics

Published: September 26, 2017

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Journal: European journal of human genetics : EJHG

Published: August 03, 2017

ASSESSMENT OF KNOWLEDGE, ATTITUDE AND PRACTICE TOWARDS CONSANGUINEOUS MARRIAGES AMONG A COHORT OF MULTIETHNIC HEALTH CARE PROVIDERS IN SAUDI ARABIA.

ASSESSMENT OF KNOWLEDGE, ATTITUDE AND PRACTICE TOWARDS CONSANGUINEOUS MARRIAGES AMONG A COHORT OF MULTIETHNIC HEALTH CARE PROVIDERS IN SAUDI ARABIA.

Journal: Journal of biosocial science

Published: December 30, 2016

Showing 1-12 of 44

Last Updated: 09/26/2026