Didier Lacombe - Dissemin

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All papers authored by Didier Lacombe

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2022 Danni Jin

ORCID

, Sheree A. Wek, Ricardo A. Cordova

ORCID

, Ronald C. Wek

ORCID

, Didier Lacombe

ORCID

, Vincent Michaud

ORCID

, Karin Musier‐Forsyth

ORCID

Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness

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Juliette Coursimault

ORCID

, Kévin Cassinari

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, François Lecoquierre

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, Olivier Quenez

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, Sophie Coutant, Céline Derambure

ORCID

, Myriam Vezain

ORCID

, Nathalie Drouot, Gabriella Vera, Elise Schaefer, Anaïs Philippe, Bérénice Doray, Laëtitia Lambert, Jamal Ghoumid

ORCID

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and 10 other authors

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

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2021 Angèle Tingaud-Sequeira

ORCID

, Aurélien Trimouille

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, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant

ORCID

ORCID

, Estelle Lopez, Benoit Arveiler

ORCID

, Didier Lacombe

ORCID

, Caroline Rooryck

ORCID

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

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2018 Max J. Hilz

ORCID

, Eloisa Arbustini

ORCID

, Lorenzo Dagna, Antonio Gasbarrini, Cyril Goizet, Didier Lacombe

ORCID

, Rocco Liguori, Raffaele Manna, Juan Politei, Marco Spada, Alessandro Burlina

Non-specific gastrointestinal features: Could it be Fabry disease?

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M. Szelechowski, N. Amoedo, E. Obre, C. Léger, L. Allard, M. Bonneu, S. Claverol, D. Lacombe

ORCID

, S. Oliet, S. Chevallier, G. Le Masson, R. Rossignol

Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

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Suzanne Chartier

ORCID

, Caroline Alby, Lucile Boutaud, Sophie Thomas, Nadia Elkhartoufi, Jelena Martinovic, Josseline Kaplan, Alexandra Benachi, Didier Lacombe

ORCID

, Pascale Sonigo, Séverine Drunat, Michel Vekemans, Joël Agenor, Férechté Encha Razavi, Tania Attie-Bitach

ORCID

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

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2017 Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher, Jérôme Toutain, Cédric Le Caignec, Marie Vincent, Mathilde Nizon, Joris Andrieux, Clémence Vanlerberghe

ORCID

, Bruno Delobel, Bénédicte Duban, Sahar Mansour

ORCID

, Emma Baple and 12 other authors

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

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Catherine Vincent-Delorme, Marine Legendre

ORCID

, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, Sophie Blesson, Dominique Martin-Coignard, Sophie Julia, Dominique Bonneau, David Geneviève, Estelle Colin, Pierre-Simon Jouk, Bruno Leheup, Hélène Dollfus and 32 other authors

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

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Christelle M. Durand

ORCID

, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios, Khalid H. El-Hachimi, Guja Astrea, François Rivier, Guillaume Banneau, Claire Pujol and 9 other authors

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

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Anne-Claude Tabet

ORCID

, Thomas Rolland

ORCID

, Marie Ducloy, Jonathan Lévy

ORCID

, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Alain Verloes, Yline Capri, Céline Dupont

ORCID

, Séverine Drunat, Sandrine Passemard, Boris Keren, Cyril Mignot and 47 other authors

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

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Guillaume Dorval, Olivier Gribouval, Vanesa Martinez-Barquero, Eduardo Machuca, Marie-Josèphe Tête, Véronique Baudouin, Stéphane Benoit, Imen Chabchoub, Gérard Champion, Dominique Chauveau, Hassib Chehade, Chokri Chouchane, Sylvie Cloarec, Pierre Cochat, Karin Dahan and 35 other authors

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

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Marie-Laure Vuillaume, Anna-Gaelle Valard, Nada Houcinat, Julie Bouron, Cécile Boucher, Sylvie Deves, Jérôme Toutain, Bruno Schaub, Clara Adenet, Didier Lacombe

ORCID

, Michèle Gueneret, Caroline Rooryck

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2:

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A. Trimouille

ORCID

, E. Lasseaux, P. Barat, C. Deiller, S. Drunat, C. Rooryck, B. Arveiler, D. Lacombe

ORCID

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

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Jean René Cazalets

ORCID

, Emma Bestaven, Emilie Doat, Marie Pierre Baudier, Cécile Gallot, Anouck Amestoy, Manuel Bouvard, Etienne Guillaud, Isabelle Guillain, Emelyne Grech, Julien Van-Gils, Patricia Fergelot, Sonia Fraisse, Emmanuelle Taupiac, Benoit Arveiler and 1 other authors

Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

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Marie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, Maria I. Melaragno, Silvia Bragagnolo, Ana B. A. Perez, Benoit Arveiler, Didier Lacombe

ORCID

, Caroline Rooryck

A novel de novo mutation in MYT1, the unique OAVS gene identified so far

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Solveig Heide

ORCID

, Boris Keren, Thierry Billette de Villemeur, Sandra Chantot-Bastaraud, Christel Depienne, Caroline Nava, Cyril Mignot, Aurélia Jacquette, Eric Fonteneau, Elodie Lejeune, Corinne Mach, Isabelle Marey, Sandra Whalen, Didier Lacombe

ORCID

, Sophie Naudion and 15 other authors

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

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Natacha Lehman

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, Anne-Claire Mazery, Antoine Visier, Clarisse Baumann, Dominique Lachesnais, Yline Capri, Annick Toutain, Sylvie Odent, Myriam Mikaty, E. Taupiac, M. L. Jacquemont, Cyril Goizet, E. Sanchez, E. Schaefer, V. Gatinois and 16 other authors

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

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dummy-Author_name, Julien Cottineau, Molly C. Kottemann, Francis P. Lach, Kottemann Mc, Young-Hoon Kang, Frédéric Vély, Lach Fp, Elissa K. Deenick, Tomi Lazarov, Laure Gineau, Kang Yh, Yi Wang, Deenick Ek, Andrea Farina and 33 other authors

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

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A. Trimouille

ORCID

, E. Barouk‐Simonet, S. Charron, J. Bouron, J.‐C Bernhard, D. Lacombe

ORCID

, P. Fergelot, C. Rooryck

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma

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Damian J. Ralser, F. Buket Ü. Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A. Pulimood, Janine Altmüller

ORCID

, Peter Nürnberg, Didier Lacombe

ORCID

, Uwe Hillen, Jörg Wenzel and 3 other authors

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

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