Publications by authors named "Alice Goldenberg"

99Publications

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 Aug 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS.

Stem Cell Res 2020 05 28;45:101807. Epub 2020 Apr 28.

IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier France; SAFE-iPSC Facility INGESTEM, CHU de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.101807DOI Listing
May 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 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

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Acta Neuropathol Commun 2019 12 3;7(1):191. Epub 2019 Dec 3.

Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.

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http://dx.doi.org/10.1186/s40478-019-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892231PMC
December 2019

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

J Invest Dermatol 2020 May 11;140(5):1106-1110.e2. Epub 2019 Nov 11.

Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2019.08.455DOI Listing
May 2020

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Am J Med Genet A 2019 11 7;179(11):2257-2262. Epub 2019 Aug 7.

Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.61317DOI Listing
November 2019

Nephrotic syndrome and mitochondrial disorders: answers.

Pediatr Nephrol 2019 08 12;34(8):1375-1377. Epub 2019 Mar 12.

Unité de néphrologie pédiatrique, CHU de Nice - Hôpital Archet, 151 Route de Saint-Antoine de Ginestière, B.P. 23079, 06202, Nice Cedex 3, France.

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http://dx.doi.org/10.1007/s00467-019-04217-7DOI Listing
August 2019

Nephrotic syndrome and mitochondrial disorders: Questions.

Pediatr Nephrol 2019 08 12;34(8):1373-1374. Epub 2019 Mar 12.

Unité de néphrologie pédiatrique, CHU de Nice - Hôpital Archet 2, 151 Route de Saint-Antoine de Ginestière, B.P. 23079, 06202, Nice Cedex 3, France.

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http://dx.doi.org/10.1007/s00467-019-04216-8DOI Listing
August 2019

Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified.

Clin Case Rep 2018 Nov 12;6(11):2234-2239. Epub 2018 Oct 12.

URHEA Child and Adolescent Psychiatry Intensive Care Unit Centre Hospitalier du Rouvray Sottevile les Rouen France.

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http://dx.doi.org/10.1002/ccr3.1796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230629PMC
November 2018

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Am J Med Genet A 2017 02 27;173(2):561-564. Epub 2016 Nov 27.

Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38041DOI Listing
February 2017

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Eur J Hum Genet 2016 12 6;24(12):1746-1751. Epub 2016 Jul 6.

Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2016.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117933PMC
December 2016

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Eur J Hum Genet 2016 08 16;24(8):1112-6. Epub 2015 Dec 16.

Departments of Pediatric, Cardiology and Genetics and INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970679PMC
August 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Impaired functional differentiation for categories of objects in the ventral visual stream: A case of developmental visual impairment.

Neuropsychologia 2015 Oct 10;77:52-61. Epub 2015 Aug 10.

INSERM, U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France.

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http://dx.doi.org/10.1016/j.neuropsychologia.2015.08.009DOI Listing
October 2015

Natural history of Barth syndrome: a national cohort study of 22 patients.

Orphanet J Rare Dis 2013 May 8;8:70. Epub 2013 May 8.

AP-HP, Registre français des neutropénies chroniques sévères, Centre de référence des déficits Immunitaires Héréditaires, Service d'Hémato-oncologie Pédiatrique Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656783PMC
May 2013

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Hum Mutat 2013 Jan 16;34(1):88-92. Epub 2012 Oct 16.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/humu.22216DOI Listing
January 2013

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume.

Am J Med Genet A 2011 Apr 15;155A(4):815-8. Epub 2011 Mar 15.

Department of Neurology, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.33911DOI Listing
April 2011

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

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Acta Neuropathol 2010 Jun 8;119(6):779-89. Epub 2010 Apr 8.

Faculty of Medicine, INSERM, U614, IFRMP23, Rouen Institute for Medical Research and Innovation, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1007/s00401-010-0684-zDOI Listing
June 2010

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.

Neuromuscul Disord 2009 Oct 5;19(10):680-4. Epub 2009 Sep 5.

Laboratoire de Biochimie et Génétique Moléculaire, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1016/j.nmd.2009.07.007DOI Listing
October 2009

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Eur J Med Genet 2008 Mar-Apr;51(2):172-7. Epub 2008 Jan 14.

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.002DOI Listing
June 2008

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Eur J Hum Genet 2008 Feb 28;16(2):184-91. Epub 2007 Nov 28.

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://www.nature.com/articles/5201968
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http://dx.doi.org/10.1038/sj.ejhg.5201968DOI Listing
February 2008

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

Am J Med Genet A 2004 Feb;124A(4):423-6

Department of Medical Genetics, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, 75043 Paris cedex 15, France.

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http://dx.doi.org/10.1002/ajmg.a.20448DOI Listing
February 2004

Werner mesomelic dysplasia with Hirschsprung disease.

Am J Med Genet A 2003 Dec;123A(2):186-9

Department of Medical Genetics, Necker-Enfants-Malades Hospital, 149 rue de Sèvres, 75043 Paris cedex 15, France.

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http://dx.doi.org/10.1002/ajmg.a.20285DOI Listing
December 2003

Antenatal manifestations of mitochondrial respiratory chain deficiency.

J Pediatr 2003 Aug;143(2):208-12

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, 149 Rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1067/S0022-3476(03)00130-6DOI Listing
August 2003