Miranda Splitt

5.6k citations

29 papers · 1.1k indexed · h-index 15

Impact in

Developmental Neuroscience top 5%
- Williams Syndrome Research
Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases

Papers in ⓘ

Genetics 17
- Genetics and Neurodevelopmental Disorders 8
- Genomic variations and chromosomal abnormalities 8
- Genomics and Rare Diseases 6
- Craniofacial Disorders and Treatments 2
Pharmacy 2
- Oral and gingival health research 2

Co-authors: John Burn (5 shared papers)Harinder Gill (2 shared papers)Judith Goodship (2 shared papers)Gurleen Sharland (2 shared papers)John Simpson (1 shared paper)Susan Lindsay (2 shared papers)Brett Casey (1 shared paper)Richard N. Bamford (1 shared paper)
Journals: The American Journal of Human Genetics (4 papers)European Journal of Human Genetics (2 papers)Journal of Medical Genetics (2 papers)Nature Genetics (1 paper)Human Molecular Genetics (1 paper)
Partner nations: United Kingdom United States Germany

In The Last Decade

Miranda Splitt

29 papers receiving 1.0k citations

Peers

Countries citing papers authored by Miranda Splitt

Since Specialization

Citations

This map shows the geographic impact of Miranda Splitt's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Miranda Splitt with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Miranda Splitt more than expected).

Fields of papers citing papers by Miranda Splitt

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Miranda Splitt. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Miranda Splitt. The network helps show where Miranda Splitt may publish in the future.

Co-authors

The 25 scholars most cited alongside Miranda Splitt, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Miranda Splitt Line = papers co-authored together Miranda Splitt links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 29 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects Nature Genetics ·Richard N. Bamford, Erich Roessler, Rebecca D. Burdine, Umay Şaplakoǧlu, June dela Cruz, Miranda Splitt, Jeffrey A. Towbin, Peter N. Bowers, Bruno Marino, Alexander F. Schier, Michael M. Shen, Maximilian Muenke, Brett Casey	2000	250
2	Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes The American Journal of Human Genetics ·Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, Martin J. Carette, Julia D. Grant, N R Dennis, William Reardon, Miranda Splitt, Andrew Read, D Donnai	1999	166
3	Patterns of recurrence of congenital heart disease Journal of the American College of Cardiology ·Harinder Gill, Miranda Splitt, Gurleen Sharland, John Simpson	2003	121
4	A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome The American Journal of Human Genetics ·Sabine M. Klauck, Susan Lindsay, Kim S. Beyer, Miranda Splitt, John Burn, Annemarie Poustka	2002	102
5	Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 The American Journal of Human Genetics ·Judith Goodship, Harinder Gill, Joan Carter, Andrew P. Jackson, Miranda Splitt, Michael Wright	2000	76
6	Defects in the determination of left-right asymmetry. Journal of Medical Genetics ·Miranda Splitt, John Burn, Judith Goodship	1996	55
7	PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. PubMed ·Susan Lindsay, Miranda Splitt, S Edney, T. P. Berney, Samantha J.L. Knight, Kay E. Davies, Odharnaith O’Brien, M. D. Gale, John Burn	1996	33
8	FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality The American Journal of Human Genetics ·Judith A. Fantes, Elena Boland, Jacqueline Ramsay, Dian Donnai, Miranda Splitt, Judith A. Goodship, Helen Stewart, Margo Whiteford, Philippe Gautier, Louise Harewood, Susan M. Holloway, Freddie H. Sharkey, E.R. Maher, Veronica van Heyningen, Jill Clayton‐Smith, David Fitzpatrick, Graeme C. Black	2008	31
9	FHF1 (FGF12) epileptic encephalopathy Neurology Genetics ·Sameer Al‐Mehmadi, Miranda Splitt, (unknown), Venkateswaran Ramesh, Suzanne D. DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A. Rosenfeld, Patrick Cossette, Jacques L. Michaud, Fadi F. Hamdan, Philippe M. Campeau, Berge A. Minassian, (unknown), (unknown), Jeffrey C. Barrett, Matthew E. Hurles	2016	29
10	Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals American Journal of Medical Genetics Part A ·Ceris Ifan Owen, Ramsay Bowden, Michael Parker, Jo Ellen Patterson, Joän M. Patterson, Sue Price, Ajoy Sarkar, Bruce Castle, Charulatha Deshpande, Miranda Splitt, Neeti Ghali, John Dean, Andrew Green, Andrew H. Crosby, (unknown), (unknown)	2018	29
11	Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications American Journal of Medical Genetics Part A ·Nomazulu Dlamini, Miranda Splitt, Anne Durkan, Ata Siddiqui, Soundrie Padayachee, Sue Hobbins, Frank Rutsch, Elizabeth Wraige	2009	21
12	Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1 Molecular Genetics & Genomic Medicine ·Mohnish Suri, Jochem M. G. Evers, Roman A. Laskowski, Sinéad O’Brien, Kate Baker, Jill Clayton‐Smith, Tabib Dabir, Dragana Josifova, Shelagh Joss, Bronwyn Kerr, Alison Kraus, Meriel McEntagart, Jenny Morton, Audrey Smith, Miranda Splitt, Janet M. Thornton, (unknown), (unknown)	2017	20
13	Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain Human Molecular Genetics ·Roman A. Laskowski, Nidhi Tyagi, Diana Johnson, Shelagh Joss, Esther Kinning, Catherine McWilliam, Miranda Splitt, Janet M. Thornton, Helen V. Firth, (unknown), (unknown)	2016	19
14	Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart ·Miranda Splitt, Μ. Y. Tsai, John Burn, Judith A. Goodship	1997	19
15	Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy European Journal of Human Genetics ·Karen Low, Karen Stals, Richard Caswell, Matthew N. Wakeling, Jill Clayton‐Smith, Alan Donaldson, Nicola Foulds, Andrew Norman, Miranda Splitt, Kathryn Urankar, K. Vijayakumar, Anirban Majumdar, Ddd Study, Sian Ellard, SF Smithson	2018	18
16	Neonatal teeth in X-linked Opitz (G/BBB) syndrome Clinical Dysmorphology ·A. Batty Shaw, Cheryl Longman, Melita Irving, Miranda Splitt	2006	14
17	22q11 Deletion in children with cleft lip and palate – is routine screening justified? Journal of Plastic Reconstructive & Aesthetic Surgery ·Muhammad Asim Bashir, Peter Hodgkinson, Tara Montgomery, Miranda Splitt	2007	12
18	Autosomal dominant transmission of Pallister-Hall syndrome Clinical Dysmorphology ·Miranda Splitt, Colleen A. Wright, R. Noah Perry, John Burn	1994	11
19	Phenotypic spectrum associated with de novo mutations in QRICH1 gene Clinical Genetics ·Athina Ververi, Miranda Splitt, John Dean, (unknown), (unknown)	2017	11
20	SET de novo frameshift variants associated with developmental delay and intellectual disabilities European Journal of Human Genetics ·(unknown), Ruth Richardson, Miranda Splitt, Ruth Newbury‐Ecob, Alice Hulbert, Joanna Kennedy, Astrid Weber	2018	6

About Miranda Splitt

Miranda Splitt is a scholar working on Genetics, Pharmacy, Genetics, Developmental Neuroscience and Molecular Biology, having authored 29 papers that have together received 1.1k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (8 papers), Genomic variations and chromosomal abnormalities (8 papers), Genomics and Rare Diseases (6 papers), Congenital heart defects research (5 papers), RNA modifications and cancer (4 papers), Oral and gingival health research (2 papers), Craniofacial Disorders and Treatments (2 papers) and Hedgehog Signaling Pathway Studies (2 papers). The work is most often cited by research in Developmental Neuroscience (143 citations), Genetics (435 citations), Molecular Biology (598 citations), Cognitive Neuroscience (111 citations) and Epidemiology (192 citations). Miranda Splitt has collaborated with scholars based in United Kingdom, United States and Germany. Frequent co-authors include John Burn, Harinder Gill, Judith Goodship, Gurleen Sharland, John Simpson, Susan Lindsay, Brett Casey, Richard N. Bamford, Alexander F. Schier and Michael M. Shen. Their work appears in journals such as The American Journal of Human Genetics, European Journal of Human Genetics, Journal of Medical Genetics, Nature Genetics and Human Molecular Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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