Gemma Poke

University of Siena — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.4kcitations67works3.12yr avg
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Research Topics

Genomics and Rare Diseases(13), Genetic Neurodegenerative Diseases(11), Genetics and Neurodevelopmental Disorders(10), Neurogenetic and Muscular Disorders Research(9), Muscle Physiology and Disorders(6)

Publications65 total

From narrative medicine to precision medicine and artificial intelligence in rare neurologic diseases
Journal of the Neurological Sciences·2025
T60. DIAGNOSTIC UTILITY OF GENOME-WIDE SEQUENCING REANALYSIS FOR DEVELOPMENTAL CONDITIONS: EXAMPLE CASES
European Neuropsychopharmacology·2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Journal of Clinical Investigation·2025· 2 citedOpen Access
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
European Journal of Human Genetics·2025· 1 citedOpen Access
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
The American Journal of Human Genetics·2025Open Access
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Human Mutation·2025· 1 citedOpen Access
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
The American Journal of Human Genetics·2024· 8 citedOpen Access
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
The American Journal of Human Genetics·2024· 12 citedOpen Access
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· 3 citedOpen Access
Genotype and phenotype correlation of <i>PHACTR1</i>-related neurological disorders
Journal of Medical Genetics·2024· 4 cited
Mitochondrial disease in New Zealand: a nationwide prevalence study
Internal Medicine Journal·2023· 2 citedOpen Access
Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children
Neurology·2022· 68 citedOpen Access
Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
2022· 2 citedOpen Access
Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy
Endocrine Abstracts·2022
The diverse pleiotropic effects of spliceosomal protein <scp>PUF60</scp>: A case series of Verheij syndrome
American Journal of Medical Genetics Part A·2022· 17 cited
Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand
Australasian Journal of Dermatology·2021· 13 cited
Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study
Quality of Life Research·2021· 4 cited
Table 2. [GNB5-Related Neurodevelopmental Disorder: Summary of Select Features].
2021
GNB5-Related Neurodevelopmental Disorder
2021
Table 4. [Treatment of Manifestations in Individuals with GNB5-Related Neurodevelopmental Disorder].
2021
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Frequent Co-authors

Gina O’Grady(8), Richard Roxburgh(8), Lynette G. Sadleir(7), Alice Theadom(7), David Fitzpatrick(6), Katherine Neas(6), Miriam Rodrigues(6), Graeme Hammond-Tooke(6), Priya Parmar(6), Donald R. Love(5), Kelly Jones(5), Braden Te Ao(5), Annemarei Ranta(5), Guillem de Valles‐Ibáñez(5), Giuseppe Merla(5), Katta M. Girisha(4), Meriel McEntagart(4), Sally Ann Lynch(4), Chirag Patel(4), Valery L. Feigin(4)