Emma MM Burkitt Wright
Manchester University
H-index: 23
North America-United States
Top articles of Emma MM Burkitt Wright
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy | Elizabeth I Pierpont Anton M Bennett Lisa Schoyer Beth Stronach April Anschutz | 2024/4 | |
P21. 005. A CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance | European Journal of Human Genetics | Molly Godfrey Michael Levy Emanuela Leonardi Christopher Campbell Leigh Demain | 2024/1/8 |
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder | The Journal of Clinical Investigation | Justin O Szot Hartmut Cuny Ella MMA Martin Delicia Z Sheng Kavitha Iyer | 2024/2/15 |
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation | Nature communications | Marie Bernkopf Ummi B Abdullah Stephen J Bush Katherine A Wood Sahar Ghaffari | 2023/2/15 |
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 | medRxiv | Hannah Slevin Fiona Kehinde Jannath Begum-Ali Ceri Ellis Emma Burkitt-Wright | 2023 |
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: a sub-analysis of a European clinical practice survey | European Journal of Medical Genetics | Thomas Edouard Martin Zenker Ingegerd Östman-Smith Eduardo Ortega Castelló Cordula M Wolf | 2022/1/1 |
Cognitive and electrophysiological correlates of working memory impairments in neurofibromatosis type 1 | Journal of autism and developmental disorders | Gorana Pobric Jason R Taylor Hemavathy M Ramalingam Emily Pye Louise Robinson | 2022/4 |
The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation | BioRxiv | Marie Bernkopf Ummi B Abdullah Stephen J Bush Katherine Wood Sahar Ghaffari | 2022/7/27 |
Management of cardiac aspects in children with Noonan syndrome–results from a European clinical practice survey among paediatric cardiologists | European journal of medical genetics | Cordula M Wolf Martin Zenker Emma Burkitt-Wright Thomas Edouard Sixto García-Miñaúr | 2022/1/1 |
Brittle cornea syndrome | Clinical Ophthalmic Genetics and Genomics | Graeme CM Black Emma Burkitt-Wright Susmito Biswas | 2022/1/18 |
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders | Journal of Medical Genetics | Leslie Patricia Molina-Ramírez Claire Kyle Jamie M Ellingford Ronnie Wright Algy Taylor | 2022/4/1 |
European Medical Education Initiative on Noonan syndrome: a clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across … | European Journal of Medical Genetics | Sixto García-Miñaúr Emma Burkitt-Wright Alain Verloes Guftar Shaikh Jan Lebl | 2022/1/1 |
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019 | Yoshua Colyn Collins‐Sawaragi Rosalie Ferner Grace Vassallo Germana De Agrò Simon Eccles | 2022/6 | |
The skeletal muscle phenotype of children with Neurofibromatosis Type 1–A clinical perspective | Amish Chinoy Grace R Vassallo Emma Burkitt Wright Judith Eelloo Siobhan West | 2022 | |
WFS1-associated optic neuropathy: genotype-phenotype correlations and disease progression | American Journal of Ophthalmology | Anna Majander Neringa Jurkute Florence Burté Kristian Brock Catarina João | 2022/9/1 |
Natural history of NF1 c. 2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study | European Journal of Human Genetics | Claire Forde Emma Burkitt-Wright Peter D Turnpenny Eric Haan John Ealing | 2022/3 |
Costello syndrome | Cassidy and Allanson's Management of Genetic Syndromes | Bronwyn Kerr Karen W Gripp Emma MM Burkitt Wright | 2021/2/19 |
Autism spectrum disorder symptom profile across the RASopathies | Frontiers in Psychiatry | Marie-Maude Geoffray Bruno Falissard Jonathan Green Browyn Kerr D Gareth Evans | 2021/1/15 |
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience | Clinical Otolaryngology | Leslie P Molina‐Ramírez Emma MM Burkitt‐Wright Haroon Saeed John H McDermott Claire Kyle | 2021/11 |
Co-Authors
