Publications by authors named "Jean-Marc Good"

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Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.
Olivia Roose, Carole Gengler, Simona Stoykova, Jean-Marc Good, Jean-Francois Tolsa

Neonatology· October 2025

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Jean-Marc Good

Am J Hum Genet· April 2025

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The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali, Karine Siquier-Pernet, Jean-Marc Good

Genet Med· March 2025

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Pregabalin treatment in a 30-year-old patient with Bainbridge-Ropers syndrome: a case-report.
Marie Geiser, Jean-Marc Good, Vincent Guinchat

Front Psychiatry· December 2024

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High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.
Alexander Coukos, Chiara Saglietti, Christine Sempoux, Monika Haubitz, Thomas Greuter, Jean-Marc Good

Hepatol Commun· August 2024

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Jean-Marc Good

Brain· May 2024

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L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase.
Loredano Pollegioni, Barbara Campanini, Jean-Marc Good, Zoraide Motta, Giulia Murtas

Sci Rep· May 2024

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SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Nicolas Pons, Gorka Fernández-Eulate, Antoine Pegat, Marie Théaudin, Régis Guieu, Jean-Marc Good

Eur J Neurol· July 2023

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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Beryl Royer-Bertrand, Sébastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Jean-Marc Good

Am J Med Genet A· June 2023

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In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Alexey Koval, Yonika A Larasati, Mikhail Savitsky, Gonzalo P Solis, Jean-Marc Good

Med· May 2023

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Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
Isis Atallah, Dominique McCormick, Jean-Marc Good, Mohammed Barigou, Montserrat Fraga

J Clin Lipidol· November 2022

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[Short telomere syndrome in adults: a rare entity that should be evoked].
Alexander Coukos, Cécile Daccord, Romain Lazor, Sabine Blum, Olaia Naveiras, Jean-Marc Good

Rev Med Suisse· August 2022

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A Eklund, Jean-Marc Good

Brain· March 2022

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Jean-Marc Good

Genet Med· October 2021

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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Jean-Marc Good

Genet Med· October 2021

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K channelopathies.
Karen W Gripp, Sarah F Smithson, Ingrid J Scurr, Julia Baptista, Anirban Majumdar, Jean-Marc Good

Eur J Hum Genet· September 2021

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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Endika Haro, Florence Petit, Charmaine U Pira, Conor D Spady, Sara Lucas-Toca, Jean-Marc Good

Nat Commun· September 2021

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CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel Bütschi, Giovanni Foletti, Vincent Guinchat, Jean-Marc Good

Am J Med Genet A· August 2021

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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, David Benninger, Thierry Kuntzer

Genes (Basel)· May 2021

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Birt-Hogg-Dubé syndrome.
Cécile Daccord, Jean-Marc Good, Marie-Anne Morren, Olivier Bonny, Daniel Hohl

Eur Respir Rev· September 2020

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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
Lorenzo Pucci, Alexandra Pointet, Jean-Marc Good, Emeline Davoine, Viviane Cina

Ann Thorac Surg· April 2020

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variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Jean-Marc Good, Florence Fellmann, Zahurul A Bhuiyan, Samuel Rotman, Etienne Pruvot

HeartRhythm Case Rep· January 2020

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Maturation of Cerebellar Purkinje Cell Population Activity during Postnatal Refinement of Climbing Fiber Network.
Jean-Marc Good, Michael Mahoney, Taisuke Miyazaki, Kenji F Tanaka, Kenji Sakimura

Cell Rep· November 2017

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A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
Harumi Yoshinaga, Shunichi Sakoda, Jean-Marc Good, Masanori P Takahashi, Tomoya Kubota

J Neurol Sci· April 2012

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