ProfileOfResearchers

Identified 4

TITLE: A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
AUTHORS: Anne Sophie Denommé Pichon; Ange Line Bruel; Ange Line Bruel; Yannis Duffourd; Yannis Duffourd; Hana Safraou; Hana Safraou; Christel Thauvin Robinet; Christel Thauvin Robinet; Christel Thauvin Robinet; Frédéric Tran Mau Them; Frédéric Tran Mau Them; Christophe Philippe; Christophe Philippe; Antonio Vitobello; Antonio Vitobello; Anne Sophie Denommé Pichon; Nolwenn Jean Marçais; Nolwenn Jean Marçais; Sébastien Moutton; Julien Thevenon; Laurence Faivre; Leslie Matalonga; Leslie Matalonga; Elke de Boer; Elke de Boer; Elke de Boer; Christian Gilissen; Christian Gilissen; Christian Gilissen; Alexander Hoischen; Alexander Hoischen; Alexander Hoischen; Alexander Hoischen; Tjitske Kleefstra; Tjitske Kleefstra; Tjitske Kleefstra; Tjitske Kleefstra; Rolph Pfundt; Rolph Pfundt; Bert B A de Vries; Bert B A de Vries; Marjolein H Willemsen; Marjolein H Willemsen; Lisenka E L M Vissers; Lisenka E L M Vissers; Adam Jackson; Siddharth Banka; Siddharth Banka; Jill Clayton Smith; Jill Clayton Smith; Elisa Benetti; Chiara Fallerini; Chiara Fallerini; Alessandra Renieri; Alessandra Renieri; Alessandra Renieri; Andrea Ciolfi; Andrea Ciolfi; Bruno Dallapiccola; Bruno Dallapiccola; Simone Pizzi; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Kornelia Ellwanger; Kornelia Ellwanger; Holm Graessner; Tobias B Haack; Tobias B Haack; Tobias B Haack; Birte Zurek; Birte Zurek; Holm Graessner; Marketa Havlovicova; Marketa Havlovicova; Milan Macek; Milan Macek; Lukas Ryba; Martin Schwarz; Pavel Votypka; Laurence Faivre; Estrella López Martín; Manuel Posada; Maria Antonietta Mencarelli; Caroline Rooryck; Aurélien Trimouille; Alain Verloes; Alain Verloes; Kristin M Abbott; Anne Sophie Denommé Pichon; Laurence Faivre; Adam Jackson; Mieke Kerstjens; Estrella López Martín; Isabelle Maystadt; Manuela Morleo; Vincenzo Nigro; Michele Pinelli; Manuel Posada; ...More
PUBLISHED: 2023, SOURCE: Genetics in Medicine, VOLUME: 25, ISSUE: 4

INDEXED IN:

Scopus

CrossRef: 1

TITLE: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Full Text
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; Karolis Sablauskas; Marco Savarese; Wouter Steyaert; Joeri K van der Velde; Antonio Vitobello; Antonio Vitobello; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Lisenka E L M Vissers; Lisenka E L M Vissers; Richarda de Voer; Richarda de Voer; Stefan Aretz; Gabriel Capella; Gareth Evans; Jose Garcia Pelaez; Elke Holinski Feder; Nicoline Hoogerbrugge; Andreas Laner; Carla Oliveira; Andreas Rump; Evelin Schröck; Anna Katharina Sommer; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Siddharth Banka; Elisa Benetti; Giorgio Casari; Andrea Ciolfi; Jill Clayton Smith; Bruno Dallapiccola; Elke de Boer; Kornelia Ellwanger; Laurence Faivre; Holm Graessner; Tobias B Haack; Anna Hammarsjö; Marketa Havlovicova; Alexander Hoischen; Anne Hugon; Adam Jackson; Tjitske Kleefstra; Anna Lindstrand; Estrella López Martín; Milan Macek; Manuela Morleo; Vicenzo Nigro; Ann Nordgren; Maria Pettersson; Michele Pinelli; Simone Pizzi; Manuel Posada; Francesca Clementina Radio; Alessandra Renieri; Caroline Rooryck; Lukas Ryba; Martin Schwarz; Marco Tartaglia; Christel Thauvin; Annalaura Torella; Aurélien Trimouille; Alain Verloes; Pavel Votypka; Klea Vyshka; Birte Zurek; Jonathan Baets; Danique Beijer; Gisèle Bonne; Judith Cossins; Teresinha Evangelista; Alessandra Ferlini; Peter Hackman; Michael G Hanna; Rita Horvath; Henry Houlden; Jarred Lau; Hanns Lochmüller; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9

INDEXED IN:

Scopus

CrossRef: 17