Elisabeth Forsythe

Affiliations

Department of Clinical Genetics, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.

Publications (4)

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

European journal of human genetics : EJHG

Avec: Sandra Whalen , Marie Shaw , Cyril Mignot , Delphine Héron , Sandra Chantot Bastaraud , Cecile Cieuta Walti , Jan Liebelt , Frances Elmslie , Patrick Yap , Jane Hurst , Brian Kirmse , Jillian Ozmore , Alessandro Mauro Spinelli , Olga Calabrese , Thierry Billette de Villemeur , Anne Claude Tabet , Jonathan Levy , Agnes Guet , Manoëlle Kossorotoff , Benjamin Kamien , Jenny Morton , Anne McCabe , Elise Brischoux-Boucher , Annick Raas-Rothschild , Antonella Pini , Renée Carroll , Jessica N Hartley , Auteur inconnu , Patrick Frosk , Anne Slavotinek , Kristen Truxal , Carroll Jennifer , Annelies Dheedene , Hong Cui , Vishal Kumar , Glen Thomson , Florence Riccardi , Jozef Gecz , Laurent Villard

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.

Orphanet journal of rare diseases

Avec: Elizabeth Forsythe , Robert M Haws , Jesús Argente , Philip Beales , Gabriel Á Martos-Moreno , Hélène Dollfus , Costel Chirila , Ari Gnanasakthy , Brieana C Buckley , Usha G Mallya , Karine Clément , Andrea M Haqq

Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey.

Orphanet journal of rare diseases

Avec: Elizabeth Forsythe , Usha G Mallya , Min Yang , Caroline Huber , Mary Lynn Cala , Alexandra Greatsinger , Ella Hagopian , Jeremy Pomeroy , Andrea M Haqq

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study.

Orphanet journal of rare diseases

Avec: Elizabeth Forsythe , Usha G Mallya , Min Yang , Caroline Huber , Mary Lynn Cala , Alexandra Greatsinger , Ella Hagopian , Jeremy Pomeroy , Andrea M Haqq

Réseau de co-auteurs

Elizabeth Forsythe 3 collaborations

Usha G Mallya 3 collaborations

Andrea M Haqq 3 collaborations

Min Yang 2 collaborations

Caroline Huber 2 collaborations

Mary Lynn Cala 2 collaborations

Alexandra Greatsinger 2 collaborations

Ella Hagopian 2 collaborations

Jeremy Pomeroy 2 collaborations

Sandra Whalen 1 collaboration

Marie Shaw 1 collaboration

Cyril Mignot 1 collaboration

Delphine Héron 1 collaboration

Sandra Chantot Bastaraud 1 collaboration

Cecile Cieuta Walti 1 collaboration

Jan Liebelt 1 collaboration

Frances Elmslie 1 collaboration

Patrick Yap 1 collaboration

Jane Hurst 1 collaboration

Brian Kirmse 1 collaboration

Jillian Ozmore 1 collaboration

Alessandro Mauro Spinelli 1 collaboration

Olga Calabrese 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Anne Claude Tabet 1 collaboration

Jonathan Levy 1 collaboration

Agnes Guet 1 collaboration

Manoëlle Kossorotoff 1 collaboration

Benjamin Kamien 1 collaboration

Jenny Morton 1 collaboration

Anne McCabe 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Annick Raas-Rothschild 1 collaboration

Antonella Pini 1 collaboration

Renée Carroll 1 collaboration

Jessica N Hartley 1 collaboration

None None 1 collaboration

Patrick Frosk 1 collaboration

Anne Slavotinek 1 collaboration

Kristen Truxal 1 collaboration

Carroll Jennifer 1 collaboration

Annelies Dheedene 1 collaboration

Hong Cui 1 collaboration

Vishal Kumar 1 collaboration

Glen Thomson 1 collaboration

Florence Riccardi 1 collaboration

Jozef Gecz 1 collaboration

Laurent Villard 1 collaboration

Robert M Haws 1 collaboration

Jesús Argente 1 collaboration

Philip Beales 1 collaboration

Gabriel Á Martos-Moreno 1 collaboration

Hélène Dollfus 1 collaboration

Costel Chirila 1 collaboration

Ari Gnanasakthy 1 collaboration

Brieana C Buckley 1 collaboration

Karine Clément 1 collaboration