Publications by authors named "Odile Boute-Benejean"

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau

J Med Genet· November 2025

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The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Cindy Colson, Marine Tessarech, Elise Boucher-Brischoux, Odile Boute-Benejean, Catherine Vincent-Delorme

Clin Genet· May 2025

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NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.
Pauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, Mélanie Rama, Caroline Thuillier, Odile Boute-Benejean

Eur J Med Genet· February 2025

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TRIT1 deficiency: Two novel patients with four novel variants.
Thomas Smol, Perrine Brunelle, Roseline Caumes, Odile Boute-Benejean, Caroline Thuillier

Eur J Med Genet· November 2022

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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Odile Boute-Benejean

Hum Mutat· March 2022

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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel

Eur J Hum Genet· June 2020

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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Odile Boute-Benejean

J Med Genet· May 2020

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Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Georgios E Papadakis, Agathe Dumont, Jerome Bouligand, Fanny Chasseloup, Anna Raggi, Odile Boute-Benejean

Hum Reprod· April 2020

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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Floor A Duijkers, Andrew McDonald, Georges E Janssens, Marco Lezzerini, Aldo Jongejan, Odile Boute-Benejean

Am J Hum Genet· June 2019

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Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny

Eur J Hum Genet· August 2017

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mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles

J Med Genet· July 2017

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Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Daphné Lehalle, Christopher T Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Odile Boute-Benejean

Hum Mutat· April 2014

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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Odile Boute-Benejean

J Med Genet· December 2012

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The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
David Chitayat, Hana Sroka, Sarah Keating, Randall S Colby, Greg Ryan

Am J Med Genet A· June 2007

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Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
K J Flintoff, Odile Boute-Benejean

Hum Genet· June 2007

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