Concepedia

Miranda Splitt

MS

Statistics

Publications

55

Citations

5.4K

H-Index

35

Active since

1994

Affiliations

University of Manchester(Current)

Institute of Genetics and Cancer

Newcastle upon Tyne Hospitals NHS Foundation Trust

University of Ulster

Centre for Life

Miranda Splitt is an author at University of Manchester specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1994–2023

55

Publications

55

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

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Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Richard N. Bamford, Erich Roessler, Rebecca D. Burdine et al. · Nature Genetics · 2000 · 351 citations

, , +12

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

, , +14

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

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Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith et al. · The American Journal of Human Genetics · 1999 · 241 citations · Full text

, , +17

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