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Showing 1–8 of 8 results
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Research |
Identification of mutations in CUL7 in 3-M syndrome
- Céline Huber
- , Dora Dias-Santagata
- , Anna Glaser
- , James O'Sullivan
- , Raja Brauner
- , Kenneth Wu
- , Xinsong Xu
- , Kerra Pearce
- , Rong Wang
- , Maria Luisa Giovannucci Uzielli
- , Nathalie Dagoneau
- , Wassim Chemaitilly
- , Andrea Superti-Furga
- , Heloisa Dos Santos
- , André Mégarbané
- , Gilles Morin
- , Gabriele Gillessen-Kaesbach
- , Raoul Hennekam
- , Ineke Van der Burgt
- , Graeme C M Black
- , Peter E Clayton
- , Andrew Read
- , Martine Le Merrer
- , Peter J Scambler
- , Arnold Munnich
- , Zhen-Qiang Pan
- , Robin Winter
- & Valérie Cormier-Daire
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Research |
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort
- Haifa Hichri
- , Corinne Stoetzel
- , Virginie Laurier
- , Solenne Caron
- , Sabine Sigaudy
- , Pierre Sarda
- , Christian Hamel
- , Dominique Martin-Coignard
- , Morin Gilles
- , Bruno Leheup
- , Mureille Holder
- , Josseline Kaplan
- , Pierre Bitoun
- , Didier Lacombe
- , Alain Verloes
- , Dominique Bonneau
- , Fabienne Perrin-Schmitt
- , Christian Brandt
- , Anne-Françoise Besancon
- , Jean-Louis Mandel
- , Mireille Cossée
- & Hélène Dollfus
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Research |
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Ghayda M. Mirzaa
- , Jessica X. Chong
- , Amélie Piton
- , Bernt Popp
- , Kimberly Foss
- , Hui Guo
- , Ricardo Harripaul
- , Kun Xia
- , Joshua Scheck
- , Kimberly A. Aldinger
- , Samin A. Sajan
- , Sha Tang
- , Dominique Bonneau
- , Anita Beck
- , Janson White
- , Sonal Mahida
- , Jacqueline Harris
- , Constance Smith-Hicks
- , Juliane Hoyer
- , Christiane Zweier
- , André Reis
- , Christian T. Thiel
- , Rami Abou Jamra
- , Natasha Zeid
- , Amy Yang
- , Laura S. Farach
- , Laurence Walsh
- , Katelyn Payne
- , Luis Rohena
- , Milen Velinov
- , Alban Ziegler
- , Elise Schaefer
- , Vincent Gatinois
- , David Geneviève
- , Marleen E. H. Simon
- , Jennefer Kohler
- , Joshua Rotenberg
- , Patricia Wheeler
- , Austin Larson
- , Michelle E. Ernst
- , Cigdem I. Akman
- , Rachel Westman
- , Patricia Blanchet
- , Lori-Anne Schillaci
- , Catherine Vincent-Delorme
- , Karen W. Gripp
- , Francesca Mattioli
- , Gwenaël Le Guyader
- , Bénédicte Gerard
- , Michèle Mathieu-Dramard
- , Gilles Morin
- , Roksana Sasanfar
- , Muhammad Ayub
- , Nasim Vasli
- , Sandra Yang
- , Rick Person
- , Kristin G. Monaghan
- , Deborah A. Nickerson
- , Ellen van Binsbergen
- , Gregory M. Enns
- , Annika M. Dries
- , Leah J. Rowe
- , Anne C. H. Tsai
- , Shayna Svihovec
- , Jennifer Friedman
- , Zehra Agha
- , Raheel Qamar
- , Lance H. Rodan
- , Julian Martinez-Agosto
- , Charlotte W. Ockeloen
- , Marie Vincent
- , William James Sunderland
- , Jonathan A. Bernstein
- , Evan E. Eichler
- , John B. Vincent
- & Michael J. Bamshad
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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 |
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation
- Julie Leclerc
- , Cathy Flament
- , Tonio Lovecchio
- , Lucie Delattre
- , Emilie Ait Yahya
- , Stéphanie Baert-Desurmont
- , Nelly Burnichon
- , Myriam Bronner
- , Odile Cabaret
- , Sophie Lejeune
- , Rosine Guimbaud
- , Gilles Morin
- , Jacques Mauillon
- , Philippe Jonveaux
- , Pierre Laurent-Puig
- , Thierry Frébourg
- , Nicole Porchet
- & Marie-Pierre Buisine
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Research |
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Alain Verloes
- , Nataliya Di Donato
- , Julien Masliah-Planchon
- , Marjolijn Jongmans
- , Omar A Abdul-Raman
- , Beate Albrecht
- , Judith Allanson
- , Han Brunner
- , Debora Bertola
- , Nicolas Chassaing
- , Albert David
- , Koen Devriendt
- , Pirayeh Eftekhari
- , Valérie Drouin-Garraud
- , Francesca Faravelli
- , Laurence Faivre
- , Fabienne Giuliano
- , Leina Guion Almeida
- , Jorge Juncos
- , Marlies Kempers
- , Hatice Koçak Eker
- , Didier Lacombe
- , Angela Lin
- , Grazia Mancini
- , Daniela Melis
- , Charles Marques Lourenço
- , Victoria Mok Siu
- , Gilles Morin
- , Marjan Nezarati
- , Malgorzata J M Nowaczyk
- , Jeanette C Ramer
- , Sara Osimani
- , Nicole Philip
- , Mary Ella Pierpont
- , Vincent Procaccio
- , Zeichi-Seide Roseli
- , Massimiliano Rossi
- , Cristina Rusu
- , Yves Sznajer
- , Ludivine Templin
- , Vera Uliana
- , Mirjam Klaus
- , Bregje Van Bon
- , Conny Van Ravenswaaij
- , Bruce Wainer
- , Andrew E Fry
- , Andreas Rump
- , Alexander Hoischen
- , Séverine Drunat
- , Jean-Baptiste Rivière
- , William B Dobyns
- & Daniela T Pilz
