Myriam Oufadem - Université Paris Descartes

Myriam Oufadem

Université Paris Descartes

France

Myriam Oufadem - Université Paris Descartes

Myriam Oufadem

Introduction

Primary Affiliation: Université Paris Descartes - France

Education

Jun 2006
Licence SVT, mention Biologie Cellulaire, Moléculaire et Physiologie, Université de Créteil (94)
Bac 3
Mention assez bien
Jun 2005
DUT Génie Biologique, option Analyses Biologiques et Biochimiques, IUT de Créteil (94)
Bac 2
Classement 10/48
Jun 2003
Lycée Marie Curie, Nogent-sur-Oise (60)
Baccalauréat

Publications

20Publications

1611Reads

3Profile Views

204PubMed Central Citations

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

Am J Med Genet A 2019 Jul 19;179(7):1304-1309. Epub 2019 Apr 19.

Laboratory of embryology and genetics of malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61151DOI Listing
July 2019
2 Reads
2.159 Impact Factor

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

J Clin Endocrinol Metab 2018 11;103(11):4023-4032

Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1210/jc.2018-01260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194809PMC
November 2018
5 Reads
6.210 Impact Factor

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

Clin Dysmorphol 2018 Apr;27(2):31-35

Victorian Clinical Genetics Services, Murdoch Children's Research Institute.

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http://dx.doi.org/10.1097/MCD.0000000000000214DOI Listing
April 2018
121 Reads
0.420 Impact Factor

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

Clin Genet 2018 02 8;93(2):356-359. Epub 2017 Sep 8.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1111/cge.13046DOI Listing
February 2018
26 Reads
3.931 Impact Factor

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

Am J Med Genet A 2018 01 21;176(1):181-186. Epub 2017 Nov 21.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38536DOI Listing
January 2018
74 Reads
2.160 Impact Factor

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

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017
113 Reads
4 Citations
10.931 Impact Factor

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Am J Hum Genet 2016 09 11;99(3):666-673. Epub 2016 Aug 11.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010643PMC
September 2016
92 Reads
1 Citation
10.931 Impact Factor

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

Sleep Breath 2015 Mar 4;19(1):55-60. Epub 2014 May 4.

Departamento da Criança e Adolescente, Centro Hospitalar do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal,

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http://dx.doi.org/10.1007/s11325-014-0996-7DOI Listing
March 2015
30 Reads
5 Citations
2.870 Impact Factor

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

Am J Hum Genet 2013 Dec 21;93(6):1118-25. Epub 2013 Nov 21.

Institut National de la Santé et de la Recherche Médicale U781, Hôpital Necker - Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.10.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853412PMC
December 2013
102 Reads
19 Citations
10.931 Impact Factor

Top co-authors

Jeanne Amiel
Jeanne Amiel

Université Paris Descartes

18
Christopher T Gordon
Christopher T Gordon

Royal Children's Hospital

16
Stanislas Lyonnet
Stanislas Lyonnet

Université Paris Descartes

13
Patrick Nitschke
Patrick Nitschke

Université Paris Descartes

9
Arnold Munnich
Arnold Munnich

Université Paris Descartes-Sorbonne Paris Cité

8
Sandrine Marlin
Sandrine Marlin

Centre de référence des Surdités Génétiques

4
Michel Vekemans
Michel Vekemans

Université Paris Descartes

4