M. Oufadem

发表

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

C. Bole-Feysot, P. Nitschké, J. Thevenon, 2018, European Journal of Human Genetics.

Germline gain‐of‐function mutations of ALK disrupt central nervous system development

A. Munnich, O. Delattre, N. Boddaert, 2011, Human mutation.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

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

N. Balayn, W. Vainchenker, R. Favier, 2021, Blood.

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

N. Boddaert, C. Bole-Feysot, P. Nitschké, 2018, American journal of medical genetics. Part A.

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

S. Lyonnet, T. Bienvenu, J. Amiel, 2018, Clinical genetics.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

A. Munnich, M. Bitner-Glindzicz, E. Tobias, 2013, Journal of Medical Genetics.

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

B. Chung, J. Amiel, C. Gordon, 2018, Clinical dysmorphology.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

R. Redon, A. Rötig, G. Ravenscroft, 2016, American journal of human genetics.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

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

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.

Germline deletion of the miR-1792 cluster causes growth and skeletal defects in humans

Patrick Callier, Laurence Faivre, Joana A. Vidigal, 2011 .

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Patrick Callier, Laurence Faivre, Joana A. Vidigal, 2011, Nature Genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

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

N. Boddaert, C. Bole-Feysot, P. Nitschké, 2019, American journal of medical genetics. Part A.

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

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

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

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

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

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2015, Nature Genetics.

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

H. Hakonarson, Tiancheng Wang, J. Amiel, 2018, The Journal of clinical endocrinology and metabolism.

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

J. Amiel, M. Oufadem, P. Fernandes, 2015, Sleep and Breathing.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Joana A. Vidigal, A. Munnich, S. Lyonnet, 2011, Nature Genetics.

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Joana A. Vidigal, A. Munnich, S. Lyonnet, 2011, Nature genetics.