Profil bibliographique

Marta Bértoli

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

57Publications signalées

1503Citations signalées

1Affiliations récentes

Institutions déclarées

Newcastle upon Tyne Hospitals NHS Foundation Trust

Domaines associés

Genomic variations and chromosomal abnormalitiesMuscle Physiology and DisordersGenomics and Rare DiseasesPrenatal Screening and DiagnosticsCongenital heart defects research

Publications récentes

Accès ouvert 2025 articleOpenAlex

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study

Elisabeth Fagereng, Su Htwe, Chloe Derocher, Marta Bértoli et autres

4 citationsOrphanet Journal of Rare Diseases

Accès ouvert 2025 articleOpenAlex

Rare disease gene association discovery in the 100,000 Genomes Project

Valentina Cipriani, Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen et autres

24 citationsNature

2024 articleOpenAlex

Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy

Maha A. Elseed, Tuomo Polvikoski, Matthew Henderson, Yolande Parkhurst et autres

0 citationsNeuromuscular Disorders

Accès ouvert 2024 articleOpenAlex

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Michelle Peter, Rhiannon Mellis, Hannah McInnes‐Dean, Morgan Daniel et autres

8 citationsFrontiers in Genetics

Accès ouvert 2024 articleOpenAlex

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

Laura M Watts, Marta Bértoli, Tania Attié‐Bitach, N. S. Roux et autres

8 citationsEuropean Journal of Human Genetics

Accès ouvert 2024 articleOpenAlex

‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

Hannah McInnes‐Dean, Rhiannon Mellis, Morgan Daniel, Holly Walton et autres

24 citationsPrenatal Diagnosis

Accès ouvert 2024 articleOpenAlex

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

Harriet Copeland, Karen Low, Sarah L. Wynn, Ayesha Ahmed et autres

7 citationsGenetics in Medicine Open

Accès ouvert 2023 preprintOpenAlex

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen et autres

3 citationsmedRxiv

Accès ouvert 2023 preprintOpenAlex

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

Harriet Copeland, Karen Low, Sarah Wynn, Ayesha Ahmed et autres

2 citationsmedRxiv

Accès ouvert 2021 articleOpenAlex

International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

Rabah Ben Yaou, Pomi Yun, Adele D’Amico, Muntoni Francesco et autres

0 citationsINRIA a CCSD electronic archive server

Accès ouvert 2021 articleOpenAlex

International retrospective natural history study of LMNA -related congenital muscular dystrophy

Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato et autres

37 citationsBrain Communications

Accès ouvert 2021 articleOpenAlex

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran et autres

17 citationsBrain Communications

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