Gemma Poke

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 9

Top Topics

Transforming Growth Factor

Intellectual Disability

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A 194 (7) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A 194 (7) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A 194 (7) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A (2024)
Gemma Poke, James Stanley, Ingrid Eileen Scheffer, Lynette G Sadleir
Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children. Neurology (2022)
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. American journal of medical genetics. Part A 188 (12) (2022)
Karen M Knapp, Gemma Poke, Danielle Jenkins, Werner Truter, Louise S Bicknell
Expanding the phenotypic spectrum associated with DPF2: A new case report. American journal of medical genetics. Part A 179 (8) (2019)
Gemma Poke, Chontelle King, Alison M Muir, Guillem de Valles-Ibáñez, Michele Germano, Carolina F Moura de Souza, Jasmine Fung, Brian Chung, Cheuk Wing Fung, Cyril Mignot, Adina Ilea, Boris Keren, Anne-Isabelle Vermersch, Suzanne Davis, Thorsten Stanley, Mahendranath Moharir, Peter Kannu, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C Mefford, Ingrid E Scheffer, Lynette G Sadleir
The epileptology of GNB5 encephalopathy. Epilepsia 60 (11) (2019)
Korawan E Sirisomboonwong, Joanne Martindale, Martin Keefe, David Goudie, Gemma Poke
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. American journal of medical genetics. Part A 176 (12) (2018)