David FitzPatrick

基本信息

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职业迁徙

个人简介

My clinical interests are in paediatric neurodevelopmental disorders and syndrome identification. My research interests are in the identification of genetic causes of serious developmental disorders.

研究兴趣

论文共 484 篇作者统计合作学者相似作者

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Heterozygous Loss-of-function SMC3 Variants Are Associated with Variable Growth and Developmental Features

Morad Ansari,Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik,Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,Emilia K. Bijlsma,Aiko Iwata-Otsubo,Thomy J. L. de Ravel,Vincent Fusaro,Alan Fryer,Keith Nykamp,Lara G. Stuhn,Tobias B. Haack,G. Christoph Korenke,Panayioti Constantinou, Kinga M. Bujakowksa,Karen J. Low,Emily Place,Jennifer Humberson, Melanie P. Napier,Jessica Hoffman,Jane Juusola,Matthew A. Deardorff,Wanqing Shao,Shira Rockowitz,Ian Krantz,Maninder Kaur,Sarah Raible, Victoria Dortenzio,Sabine Kliesch,Moriel Singer-Berk,Emily Groopman,Stephanie DiTroia,Sonia Ballal,Siddharth Srivastava, Kathrin Rothfelder,Saskia Biskup,Jessica Rzasa,Jennifer Kerkhof,Haley McConkey,Bekim Sadikovic,Sarah Hilton,Siddharth Banka,Frank Tuettelmann,Donald F. Conrad,Anne O'Donnell-Luria,Michael E. Talkowski,David R. Fitzpatrick,Philip M. Boone

Human Genetics and Genomics Advances（2024）

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Single-cell Analyses Reveal Transient Retinal Progenitor Cells in the Ciliary Margin of Developing Human Retina

Birthe Dorgau,Joseph Collin,Agata Rozanska,Darin Zerti, Adrienne Unsworth,Moira Crosier,Rafiqul Hussain,Jonathan Coxhead,Tamil Dhanaseelan,Aara Patel,Jane C. Sowden,David R. FitzPatrick,Rachel Queen,Majlinda Lako

NATURE COMMUNICATIONS（2024）

引用4浏览0WOSNATURE引用

156: Addressing a Gap in Radiation Oncology Knowledge: A Comprehensive Junior Registrar Teaching Series

Guhan Rangaswamy,Jill Nicholson,Aisling M. Glynn, Orla Houlihan,Neil Wallace, Gavin Kennedy,Killian Nugent,Emma Connolly, Geraldine Murphy, Karen Olden,Mary Burke,Nazmy ElBeltagi,Jerome Coffey,Moya Cunningham,David Fitzpatrick,Frances K. Duane,Clare Faul,Orla McArdle

RADIOTHERAPY AND ONCOLOGY (2024): S2653-S2655

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Deep Mutational Scanning Quantifies DNA Binding and Predicts Clinical Outcomes of PAX6 Variants

Alexander F. McDonnell, Marcin Plech,Benjamin J. Livesey,Lukas Gerasimavicius,Liusaidh J. Owen,Hildegard Nikki Hall,David R. FitzPatrick,Joseph A. Marsh,Grzegorz Kudla

MOLECULAR SYSTEMS BIOLOGYno. 7 (2024): 825-844

引用2浏览0WOS引用

Detection of Mosaic Chromosomal Alterations in Children with Severe Developmental Disorders Recruited to the DDD Study

Ruth Y. Eberhardt,Caroline F. Wright,David R. FitzPatrick,Matthew E. Hurles,Helen V. Firth

Genetics in medicine openno. 1 (2023): 100836-100836

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Importance of Adopting Standardized MANE Transcripts in Clinical Reporting

Caroline F. Wright,David R. FitzPatrick,James S. Ware,Heidi L. Rehm,Helen V. Firth

GENETICS IN MEDICINE（2023）

引用3浏览0WOS引用

PO-1112 Outcomes after Stereotactic Radiosurgery for Brain Metastases from Gastro-intestinal Malignancies

P. Sharma,G. Rangaswamy,J. Nicholson, J. Waldron,C. Skourou,M. Dunne,N. El Beltagi,C. Faul,D. Fitzpatrick

Radiotherapy and Oncology（2023）

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Recommendations for Clinical Interpretation of Variants Found in Non-Coding Regions of the Genome

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 284-285

引用59浏览0WOS引用

Characterization of an Eye Field-like State During Optic Vesicle Organoid Development

Liusaidh J. Owen,Jacqueline Rainger,Hemant Bengani,Fiona Kilanowski,David R. Fitzpatrick,Andrew S. Papanastasiou

DEVELOPMENTno. 15 (2023)

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论文共 484 篇作者统计合作学者相似作者