Stanislas Lyonnet

Stanislas Lyonnet

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Stanislas Lyonnet

Stanislas Lyonnet

Publications by authors named "Stanislas Lyonnet"

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Hum Mol Genet 2019 Oct 10. Epub 2019 Oct 10.

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, 128 01 Prague, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddz237DOI Listing
October 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

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

Efficiency of prenatal diagnosis in Pierre Robin sequence.

Prenat Diagn 2017 Nov 26;37(11):1169-1175. Epub 2017 Oct 26.

Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/pd.5162DOI Listing
November 2017

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

Altered SOX9 genital tubercle enhancer region in hypospadias.

J Steroid Biochem Mol Biol 2017 06 29;170:28-38. Epub 2016 Oct 29.

Molecular Genetics and Development, Hudson Institute of Medical Research, Melbourne, Victoria, Australia; Monash University, Melbourne, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2016.10.009DOI Listing
June 2017

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Am J Med Genet A 2017 Jun 19;173(6):1521-1530. Epub 2017 Apr 19.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38212DOI Listing
June 2017

Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.

Prenat Diagn 2015 Sep 15;35(9):853-8. Epub 2015 Jun 15.

General Pediatrics Department and Reference Center for Rare Diseases 'Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux', Necker Hospital, Paris, France.

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http://dx.doi.org/10.1002/pd.4619DOI Listing
September 2015

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.

Am J Med Genet A 2015 Aug 6;167A(8):1908-12. Epub 2015 Apr 6.

Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37094DOI Listing
August 2015

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Mol Syndromol 2015 Jul 11;6(2):77-82. Epub 2015 Jun 11.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, France ; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco, France.

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http://dx.doi.org/10.1159/000430970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521058PMC
July 2015

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

Hum Mol Genet 2014 Nov 10;23(21):5763-73. Epub 2014 Jun 10.

INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France,

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http://dx.doi.org/10.1093/hmg/ddu290DOI Listing
November 2014

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Am J Med Genet A 2014 Jul 26;164A(7):1850-3. Epub 2014 Mar 26.

INSERM U1163, Hôpital Necker-Enfants Malades and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36505DOI Listing
July 2014

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Am J Med Genet A 2014 May 24;164A(5):1310-7. Epub 2014 Mar 24.

Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; INSERM U781, Université Sorbonne Paris Cité, Institut IMAGINE, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36452DOI Listing
May 2014

Enhancer mutations and phenotype modularity.

Nat Genet 2014 Jan;46(1):3-4

University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.2861DOI Listing
January 2014

Pathways systematically associated to Hirschsprung's disease.

Orphanet J Rare Dis 2013 Dec 2;8:187. Epub 2013 Dec 2.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Av, Manuel Siurot s/n, Seville, 41013, Spain.

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http://dx.doi.org/10.1186/1750-1172-8-187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879038PMC
December 2013

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.

Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36066DOI Listing
September 2013

Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes.

Am J Med Genet A 2013 Feb 9;161A(2):312-9. Epub 2013 Jan 9.

General Pediatrics Department, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35773DOI Listing
February 2013

[Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence].

Biol Aujourdhui 2011 11;205(2):111-24. Epub 2011 Aug 11.

Département de génétique, Université Paris Descartes et Inserm U-781, Hôpital Necker-Enfants Malades, Paris Cedex, France.

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http://www.biologie-journal.org/10.1051/jbio/2011010
Publisher Site
http://dx.doi.org/10.1051/jbio/2011010DOI Listing
September 2011

Genetic factors in isolated and syndromic esophageal atresia.

J Pediatr Gastroenterol Nutr 2011 May;52 Suppl 1:S6-8

Département de Génétique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Faculté de Médecine de Montpellier-Nimes, Montpellier, France.

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http://dx.doi.org/10.1097/MPG.0b013e318213316aDOI Listing
May 2011