Myriam Oufadem

Paris, France

Last Updated: 09/26/2026

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Found 20 publications

CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag.

CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag.

Journal: Blood

Published: December 23, 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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

Published: November 13, 2019

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Journal: American journal of medical genetics. Part A

Published: November 20, 2018

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 07, 2018

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.

Journal: Clinical dysmorphology

Published: January 31, 2018

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Journal: American journal of human genetics

Published: August 20, 2017

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Journal: American journal of medical genetics. Part A

Published: June 08, 2017

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Journal: European journal of human genetics : EJHG

Published: May 12, 2017

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Journal: American journal of human genetics

Published: February 10, 2017

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

Journal: Clinical genetics

Published: February 02, 2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Journal: American journal of human genetics

Published: December 17, 2016

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Journal: Nature genetics

Published: May 18, 2016

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Last Updated: 09/26/2026