Publications by authors named "Elise Schaefer"

55Publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Nov 5. Epub 2020 Nov 5.

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/brain/awaa304DOI Listing
November 2020

Dental and maxillofacial features of Noonan Syndrome: Case series of ten patients.

J Craniomaxillofac Surg 2020 Mar 6;48(3):242-250. Epub 2020 Feb 6.

Oral and Maxillofacial Surgery Department, Roger Salengro Hospital, Avenue du Professeur Emile Laine, 59037, Lille, France; Université Lille 2 Droit et Santé, 1 Pl. de Verdun, 59000, Lille, France; INSERM U1008, Controlled Drug Delivery Systems and Biomaterials, Faculté de Pharmacie, 3, rue du Professeur Laguesse, BP83, 59006, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.jcms.2020.01.011DOI Listing
March 2020

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

Eur J Med Genet 2020 Apr 21;63(4):103857. Epub 2020 Jan 21.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103857DOI Listing
April 2020

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.

J Bone Miner Res 2020 May 13;35(5):913-919. Epub 2020 Jan 13.

Normandie Université, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, Caen, France.

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http://dx.doi.org/10.1002/jbmr.3948DOI Listing
May 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 10 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13591
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http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.

Pediatr Blood Cancer 2019 07 12;66(7):e27751. Epub 2019 Apr 12.

UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.

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http://dx.doi.org/10.1002/pbc.27751DOI Listing
July 2019

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome.

Front Genet 2019 30;10:21. Epub 2019 Jan 30.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.3389/fgene.2019.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363664PMC
January 2019

Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzyme.

Biotechnol Bioeng 2018 03 22;115(3):557-564. Epub 2017 Nov 22.

Department of Chemical and Environmental Engineering, University of California, Riverside, California.

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http://dx.doi.org/10.1002/bit.26492DOI Listing
March 2018

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
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http://dx.doi.org/10.1016/j.ejmg.2017.08.011DOI Listing
November 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

J Hum Genet 2016 May 14;61(5):447-50. Epub 2016 Jan 14.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1038/jhg.2015.162DOI Listing
May 2016

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Eur J Med Genet 2015 Sep 15;58(9):479-87. Epub 2015 Jul 15.

Laboratoire de Génétique Médicale INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine de Strasbourg, Université De Strasbourg, Strasbourg, France; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.004DOI Listing
September 2015

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Am J Ophthalmol 2015 Aug 15;160(2):364-372.e1. Epub 2015 May 15.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.05.007DOI Listing
August 2015

Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation".

Eur J Med Genet 2014 Jul 14;57(7):350-1. Epub 2014 May 14.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.008DOI Listing
July 2014

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Ophthalmic Genet 2015 25;36(4):353-8. Epub 2014 Mar 25.

a Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil , Strasbourg , France .

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http://dx.doi.org/10.3109/13816810.2014.886270DOI Listing
July 2016

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

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http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

Eur J Med Genet 2014 Mar 4;57(4):129-32. Epub 2014 Mar 4.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.015DOI Listing
March 2014

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

J Med Genet 2014 Feb 11;51(2):132-6. Epub 2013 Sep 11.

Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2013-101785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966300PMC
February 2014

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2663-5. Epub 2013 Aug 5.

AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36081DOI Listing
October 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29.

Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.004DOI Listing
August 2011