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Showing 1–17 of 17 results
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Research |
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
- Aurélien Juven
- , Sophie Nambot
- , Amélie Piton
- , Nolwenn Jean-Marçais
- , Alice Masurel
- , Patrick Callier
- , Nathalie Marle
- , Anne-Laure Mosca-Boidron
- , Paul Kuentz
- , Christophe Philippe
- , Martin Chevarin
- , Yannis Duffourd
- , Elodie Gautier
- , Arnold Munnich
- , Marlène Rio
- , Sophie Rondeau
- , Salima El Chehadeh
- , Élise Schaefer
- , Bénédicte Gérard
- , Sonia Bouquillon
- , Catherine Vincent Delorme
- , Christine Francannet
- , Fanny Laffargue
- , Laetitia Gouas
- , Bertrand Isidor
- , Marie Vincent
- , Sophie Blesson
- , Fabienne Giuliano
- , Olivier Pichon
- , Cédric Le Caignec
- , Hubert Journel
- , Laurence Perrin-Sabourin
- , Jennifer Fabre-Teste
- , Dominique Martin
- , Gaelle Vieville
- , Klaus Dieterich
- , Didier Lacombe
- , Anne-Sophie Denommé-Pichon
- , Christel Thauvin-Robinet
- & Laurence Faivre
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Research | | Open
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
- Karen J Low
- , Morad Ansari
- , Rami Abou Jamra
- , Angus Clarke
- , Salima El Chehadeh
- , David R FitzPatrick
- , Mark Greenslade
- , Alex Henderson
- , Jane Hurst
- , Kory Keller
- , Paul Kuentz
- , Trine Prescott
- , Franziska Roessler
- , Kaja K Selmer
- , Michael C Schneider
- , Fiona Stewart
- , Katrina Tatton-Brown
- , Julien Thevenon
- , Magnus D Vigeland
- , Julie Vogt
- , Marjolaine Willems
- , Jonathan Zonana
- , D D D Study
- & Sarah F Smithson
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Research | | Open
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
- Stéphanie Baert-Desurmont
- , Françoise Charbonnier
- , Estelle Houivet
- , Lorena Ippolito
- , Jacques Mauillon
- , Marion Bougeard
- , Caroline Abadie
- , David Malka
- , Jacqueline Duffour
- , Françoise Desseigne
- , Chrystelle Colas
- , Pascal Pujol
- , Sophie Lejeune
- , Catherine Dugast
- , Bruno Buecher
- , Laurence Faivre
- , Dominique Leroux
- , Paul Gesta
- , Isabelle Coupier
- , Rosine Guimbaud
- , Pascaline Berthet
- , Sylvie Manouvrier
- , Estelle Cauchin
- , Fabienne Prieur
- , Pierre Laurent-Puig
- , Marine Lebrun
- , Philippe Jonveaux
- , Jean Chiesa
- , Olivier Caron
- , Marie-Emmanuelle Morin-Meschin
- , Florence Polycarpe-Osaer
- , Sophie Giraud
- , Aziz Zaanan
- , Delphine Bonnet
- , Ludovic Mansuy
- , Valérie Bonadona
- , Salima El Chehadeh
- , François Duhoux
- , Marion Gauthier-Villars
- , Jean-Christophe Saurin
- , Marie- Agnès Collonge-Rame
- , Laurence Brugières
- , Qing Wang
- , Brigitte Bressac-de Paillerets
- , Jean-Marc Rey
- , Christine Toulas
- , Marie-Pierre Buisine
- , Myriam Bronner
- , Joanna Sokolowska
- , Agnès Hardouin
- , Anne-Françoise Cailleux
- , Hakim Sebaoui
- , Julien Blot
- , Julie Tinat
- , Jacques Benichou
- & Thierry Frebourg
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Research |
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Research |
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
- Futoshi Sekiguchi
- , Yoshinori Tsurusaki
- , Nobuhiko Okamoto
- , Keng Wee Teik
- , Seiji Mizuno
- , Hiroshi Suzumura
- , Bertrand Isidor
- , Winnie Peitee Ong
- , Muzhirah Haniffa
- , Susan M. White
- , Mari Matsuo
- , Kayoko Saito
- , Shubha Phadke
- , Tomoki Kosho
- , Patrick Yap
- , Manisha Goyal
- , Lorne A. Clarke
- , Rani Sachdev
- , George McGillivray
- , Richard J. Leventer
- , Chirag Patel
- , Takanori Yamagata
- , Hitoshi Osaka
- , Yoshiya Hisaeda
- , Hirofumi Ohashi
- , Kenji Shimizu
- , Keisuke Nagasaki
- , Junpei Hamada
- , Sumito Dateki
- , Takashi Sato
- , Yasutsugu Chinen
- , Tomonari Awaya
- , Takeo Kato
- , Kougoro Iwanaga
- , Masahiko Kawai
- , Takashi Matsuoka
- , Yoshikazu Shimoji
- , Tiong Yang Tan
- , Seema Kapoor
- , Nerine Gregersen
- , Massimiliano Rossi
- , Mathieu Marie-Laure
- , Lesley McGregor
- , Kimihiko Oishi
- , Lakshmi Mehta
- , Greta Gillies
- , Paul J. Lockhart
- , Kate Pope
- , Anju Shukla
- , Katta Mohan Girisha
- , Ghada M. H. Abdel-Salam
- , David Mowat
- , David Coman
- , Ok Hwa Kim
- , Marie-Pierre Cordier
- , Kate Gibson
- , Jeff Milunsky
- , Jan Liebelt
- , Helen Cox
- , Salima El Chehadeh
- , Annick Toutain
- , Ken Saida
- , Hiromi Aoi
- , Gaku Minase
- , Naomi Tsuchida
- , Kazuhiro Iwama
- , Yuri Uchiyama
- , Toshifumi Suzuki
- , Kohei Hamanaka
- , Yoshiteru Azuma
- , Atsushi Fujita
- , Eri Imagawa
- , Eriko Koshimizu
- , Atsushi Takata
- , Satomi Mitsuhashi
- , Satoko Miyatake
- , Takeshi Mizuguchi
- , Noriko Miyake
- & Naomichi Matsumoto
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Research |
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
- Ash Zawerton
- , Cyril Mignot
- , Ashley Sigafoos
- , Patrick R. Blackburn
- , Abdul Haseeb
- , Kirsty McWalter
- , Shoji Ichikawa
- , Caroline Nava
- , Boris Keren
- , Perrine Charles
- , Isabelle Marey
- , Anne-Claude Tabet
- , Jonathan Levy
- , Laurence Perrin
- , Andreas Hartmann
- , Gaetan Lesca
- , Caroline Schluth-Bolard
- , Pauline Monin
- , Sophie Dupuis-Girod
- , Maria J. Guillen Sacoto
- , Rhonda E. Schnur
- , Zehua Zhu
- , Alice Poisson
- , Salima El Chehadeh
- , Yves Alembik
- , Ange-Line Bruel
- , Daphné Lehalle
- , Sophie Nambot
- , Sébastien Moutton
- , Sylvie Odent
- , Sylvie Jaillard
- , Christèle Dubourg
- , Yvonne Hilhorst-Hofstee
- , Tina Barbaro-Dieber
- , Lucia Ortega
- , Elizabeth J. Bhoj
- , Diane Masser-Frye
- , Lynne M. Bird
- , Kristin Lindstrom
- , Keri M. Ramsey
- , Vinodh Narayanan
- , Emily Fassi
- , Marcia Willing
- , Trevor Cole
- , Claire G. Salter
- , Rhoda Akilapa
- , Anthony Vandersteen
- , Natalie Canham
- , Patrick Rump
- , Erica H. Gerkes
- , Jolien S. Klein Wassink-Ruiter
- , Emilia Bijlsma
- , Mariëtte J. V. Hoffer
- , Marcelo Vargas
- , Antonina Wojcik
- , Florian Cherik
- , Christine Francannet
- , Jill A. Rosenfeld
- , Keren Machol
- , Daryl A. Scott
- , Carlos A. Bacino
- , Xia Wang
- , Gary D. Clark
- , Marta Bertoli
- , Simon Zwolinski
- , Rhys H. Thomas
- , Ela Akay
- , Richard C. Chang
- , Rebekah Bressi
- , Rossana Sanchez Russo
- , Myriam Srour
- , Laura Russell
- , Anne-Marie E. Goyette
- , Lucie Dupuis
- , Roberto Mendoza-Londono
- , Catherine Karimov
- , Maries Joseph
- , Mathilde Nizon
- , Benjamin Cogné
- , Alma Kuechler
- , Amélie Piton
- , Eric W. Klee
- , Véronique Lefebvre
- , Karl J. Clark
- & Christel Depienne
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Research |
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
- Ange-Line Bruel
- , Sophie Nambot
- , Virginie Quéré
- , Antonio Vitobello
- , Julien Thevenon
- , Mirna Assoum
- , Sébastien Moutton
- , Nada Houcinat
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Alain Verloès
- , Alexandra Karsenti
- , Alice Goldenberg
- , Aurélia Jacquette
- , Béatrice Jouret
- , Béatrice Laudier
- , Christine Coubes
- , Christine Francannet
- , Daphné Lehalle
- , David Geneviève
- , Delphine Heron
- , Didier Lacombe
- , Elise Schaefer
- , Elodie Lacaze
- , Emmanuel Jacquemin
- , Fabienne Prieur
- , Fanny Laffarge
- , Florence Petit
- , François Feillet
- , Gilles Morin
- , Gwenaëlle Diene
- , James Lespinasse
- , Jeanne Amiel
- , Judith Melki
- , Laëtitia Lambert
- , Laurence Perrin
- , Lucile Pinson
- , Marie-Line Jacquemont
- , Marie-Pierre Cordier-Alex
- , Marine Lebrun
- , Marion Gérard-Blanluet
- , Marjolaine Willems
- , Massimiliano Rossi
- , Nicolas Chassaing
- , Nicole Philip
- , Renaud Touraine
- , Salima El-Chehadeh
- , Séverine Audebert-Bellanger
- , Sophie Blesson
- , Yline Capri
- , Martin Chevarin
- , Thibaud Jouan
- , Charlotte Poë
- , Patrick Callier
- , Emilie Tisserand
- , Christophe Philippe
- , Frédéric Tran Mau Them
- , Yannis Duffourd
- , Laurence Faivre
- & Christel Thauvin-Robinet
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Research |
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
- M. Felicia Basilicata
- , Ange-Line Bruel
- , Giuseppe Semplicio
- , Claudia Isabelle Keller Valsecchi
- , Tuğçe Aktaş
- , Yannis Duffourd
- , Tobias Rumpf
- , Jenny Morton
- , Iben Bache
- , Witold G. Szymanski
- , Christian Gilissen
- , Olivier Vanakker
- , Katrin Õunap
- , Gerhard Mittler
- , Ineke van der Burgt
- , Salima El Chehadeh
- , Megan T. Cho
- , Rolph Pfundt
- , Tiong Yang Tan
- , Maria Kirchhoff
- , Björn Menten
- , Sarah Vergult
- , Kristin Lindstrom
- , André Reis
- , Diana S. Johnson
- , Alan Fryer
- , Victoria McKay
- , Richard B. Fisher
- , Christel Thauvin-Robinet
- , David Francis
- , Tony Roscioli
- , Sander Pajusalu
- , Kelly Radtke
- , Jaya Ganesh
- , Han G. Brunner
- , Meredith Wilson
- , Laurence Faivre
- , Vera M. Kalscheuer
- , Julien Thevenon
- & Asifa Akhtar
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Research |
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
- Laura Mary
- , Amélie Piton
- , Elise Schaefer
- , Francesca Mattioli
- , Elsa Nourisson
- , Claire Feger
- , Claire Redin
- , Magali Barth
- , Salima El Chehadeh
- , Estelle Colin
- , Christine Coubes
- , Laurence Faivre
- , Elisabeth Flori
- , David Geneviève
- , Yline Capri
- , Laurence Perrin
- , Jennifer Fabre-Teste
- , Dana Timbolschi
- , Alain Verloes
- , Robert Olaso
- , Anne Boland
- , Jean-François Deleuze
- , Jean-Louis Mandel
- , Bénédicte Gerard
- & Irina Giurgea
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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
- Sophie Nambot
- , Julien Thevenon
- , Paul Kuentz
- , Yannis Duffourd
- , Emilie Tisserant
- , Ange-Line Bruel
- , Anne-Laure Mosca-Boidron
- , Alice Masurel-Paulet
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Mathilde Lefebvre
- , Pierre Vabres
- , Salima El Chehadeh-Djebbar
- , Christophe Philippe
- , Frederic Tran Mau-Them
- , Judith St-Onge
- , Thibaud Jouan
- , Martin Chevarin
- , Charlotte Poé
- , Virginie Carmignac
- , Antonio Vitobello
- , Patrick Callier
- , Jean-Baptiste Rivière
- , Laurence Faivre
- & Christel Thauvin-Robinet
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
- Paul Kuentz
- , Judith St-Onge
- , Yannis Duffourd
- , Jean-Benoît Courcet
- , Virginie Carmignac
- , Thibaud Jouan
- , Arthur Sorlin
- , Claire Abasq-Thomas
- , Juliette Albuisson
- , Jeanne Amiel
- , Daniel Amram
- , Stéphanie Arpin
- , Tania Attie-Bitach
- , Nadia Bahi-Buisson
- , Sébastien Barbarot
- , Geneviève Baujat
- , Didier Bessis
- , Olivia Boccara
- , Maryse Bonnière
- , Odile Boute
- , Anne-Claire Bursztejn
- , Christine Chiaverini
- , Valérie Cormier-Daire
- , Christine Coubes
- , Bruno Delobel
- , Patrick Edery
- , Salima El Chehadeh
- , Christine Francannet
- , David Geneviève
- , Alice Goldenberg
- , Damien Haye
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Philippe Khau Van Kien
- , Didier Lacombe
- , Ludovic Martin
- , Jelena Martinovic
- , Annabel Maruani
- , Michèle Mathieu-Dramard
- , Juliette Mazereeuw-Hautier
- , Caroline Michot
- , Cyril Mignot
- , Juliette Miquel
- , Fanny Morice-Picard
- , Florence Petit
- , Alice Phan
- , Massimiliano Rossi
- , Renaud Touraine
- , Alain Verloes
- , Marie Vincent
- , Catherine Vincent-Delorme
- , Sandra Whalen
- , Marjolaine Willems
- , Nathalie Marle
- , Daphné Lehalle
- , Julien Thevenon
- , Christel Thauvin-Robinet
- , Smaïl Hadj-Rabia
- , Laurence Faivre
- , Pierre Vabres
- & Jean-Baptiste Rivière
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Research |
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
- Salima El Chehadeh
- , Wilhelmina S Kerstjens-Frederikse
- , Julien Thevenon
- , Paul Kuentz
- , Ange-Line Bruel
- , Christel Thauvin-Robinet
- , Candace Bensignor
- , Hélène Dollfus
- , Vincent Laugel
- , Jean-Baptiste Rivière
- , Yannis Duffourd
- , Caroline Bonnet
- , Matthieu P Robert
- , Rodica Isaiko
- , Morgane Straub
- , Catherine Creuzot-Garcher
- , Patrick Calvas
- , Nicolas Chassaing
- , Bart Loeys
- , Edwin Reyniers
- , Geert Vandeweyer
- , Frank Kooy
- , Miroslava Hančárová
- , Marketa Havlovicová
- , Darina Prchalová
- , Zdenek Sedláček
- , Christian Gilissen
- , Rolph Pfundt
- , Jolien S Klein Wassink-Ruiter
- & Laurence Faivre
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Research |
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- Angélique Quartier
- , Hélène Poquet
- , Brigitte Gilbert-Dussardier
- , Massimiliano Rossi
- , Anne-Sophie Casteleyn
- , Vincent des Portes
- , Claire Feger
- , Elsa Nourisson
- , Paul Kuentz
- , Claire Redin
- , Julien Thevenon
- , Anne-Laure Mosca-Boidron
- , Patrick Callier
- , Jean Muller
- , Gaetan Lesca
- , Frédéric Huet
- , Véronique Geoffroy
- , Salima El Chehadeh
- , Matthieu Jung
- , Benoit Trojak
- , Stéphanie Le Gras
- , Daphné Lehalle
- , Bernard Jost
- , Stéphanie Maury
- , Alice Masurel
- , Patrick Edery
- , Christel Thauvin-Robinet
- , Bénédicte Gérard
- , Jean-Louis Mandel
- , Laurence Faivre
- & Amélie Piton
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Research |
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
- Emilie Degrolard-Courcet
- , Joanna Sokolowska
- , Marie-Martine Padeano
- , Séverine Guiu
- , Myriam Bronner
- , Carole Chery
- , Fanny Coron
- , Côme Lepage
- , Caroline Chapusot
- , Catherine Loustalot
- , Jean-Louis Jouve
- , Cyril Hatem
- , Emmanuelle Ferrant
- , Laurent Martin
- , Charles Coutant
- , Amandine Baurand
- , Gérard Couillault
- , Alexandra Delignette
- , Salima El Chehadeh
- , Sarab Lizard
- , Laurent Arnould
- , Pierre Fumoleau
- , Patrick Callier
- , Francine Mugneret
- , Christophe Philippe
- , Thierry Frebourg
- , Philippe Jonveaux
- & Laurence Faivre
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Research |
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
- Mouna Barat-Houari
- , Bruno Dumont
- , Aurélie Fabre
- , Frédéric TM Them
- , Yves Alembik
- , Jean-Luc Alessandri
- , Jeanne Amiel
- , Séverine Audebert
- , Clarisse Baumann-Morel
- , Patricia Blanchet
- , Eric Bieth
- , Marie Brechard
- , Tiffany Busa
- , Patrick Calvas
- , Yline Capri
- , François Cartault
- , Nicolas Chassaing
- , Vidrica Ciorca
- , Christine Coubes
- , Albert David
- , Anne-Lise Delezoide
- , Delphine Dupin-Deguine
- , Salima El Chehadeh
- , Laurence Faivre
- , Fabienne Giuliano
- , Alice Goldenberg
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Josseline Kaplan
- , Didier Lacombe
- , Marine Lebrun
- , Sandrine Marlin
- , Dominique Martin-Coignard
- , Jelena Martinovic
- , Alice Masurel
- , Judith Melki
- , Monique Mozelle-Nivoix
- , Karine Nguyen
- , Sylvie Odent
- , Nicole Philip
- , Lucile Pinson
- , Ghislaine Plessis
- , Chloé Quélin
- , Elise Shaeffer
- , Sabine Sigaudy
- , Christel Thauvin
- , Marianne Till
- , Renaud Touraine
- , Jacqueline Vigneron
- , Geneviève Baujat
- , Valérie Cormier-Daire
- , Martine Le Merrer
- , David Geneviève
- & Isabelle Touitou
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Research |
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
- Julien Thevenon
- , Céline Souchay
- , Gail K Seabold
- , Inna Dygai-Cochet
- , Patrick Callier
- , Sébastien Gay
- , Lucie Corbin
- , Laurence Duplomb
- , Christel Thauvin-Robinet
- , Alice Masurel-Paulet
- , Salima El Chehadeh
- , Magali Avila
- , Delphine Minot
- , Eric Guedj
- , Sophie Chancenotte
- , Marlène Bonnet
- , Daphne Lehalle
- , Ya-Xian Wang
- , Paul Kuentz
- , Frédéric Huet
- , Anne-Laure Mosca-Boidron
- , Nathalie Marle
- , Ronald S Petralia
- & Laurence Faivre
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Research |
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
- Sophie Nambot
- , Alice Masurel
- , Salima El Chehadeh
- , Anne-Laure Mosca-Boidron
- , Christel Thauvin-Robinet
- , Mathilde Lefebvre
- , Nathalie Marle
- , Julien Thevenon
- , Stéphanie Perez-Martin
- , Véronique Dulieu
- , Frédéric Huet
- , Ghislaine Plessis
- , Joris Andrieux
- , Pierre-Simon Jouk
- , Gipsy Billy-Lopez
- , Charles Coutton
- , Fanny Morice-Picard
- , Marie-Ange Delrue
- , Delphine Heron
- , Caroline Rooryck
- , Alice Goldenberg
- , Pascale Saugier-Veber
- , Géraldine Joly-Hélas
- , Patricia Calenda
- , Paul Kuentz
- , Sylvie Manouvrier-Hanu
- , Sophie Dupuis-Girod
- , Patrick Callier
- & Laurence Faivre
