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Morag N. Collinson

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
2011 · Erin B Kaminsky, Vineith Kaul, et al. · Genetics in Medicine · 444
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
2017 · Víctor Faundes, William G. Newman, et al. · The American Journal of Human Genetics · 276
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Mosaic Turner syndrome shows reduced penetrance in an adult population study
2018 · Marcus A. Tuke, Katherine S. Ruth, et al. · Genetics in Medicine · 147
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Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017 · Lynette G. Sadleir, Emily I. Mountier, et al. · Neurology · 131
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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
2009 · Katrina Tatton‐Brown, Daniela T. Pilz, et al. · American Journal of Medical Genetics Part A · 130
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
1998 · J C Barber, C A Joyce, et al. · Journal of Medical Genetics · 123
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications · 120
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
2019 · Anne H. O’Donnell-Luria, Lynn S. Pais, et al. · The American Journal of Human Genetics · 94
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Inv(10)(p11.2q21.2), a variant chromosome
1997 · M. N. Collinson, Andrew M. Fisher, et al. · Human Genetics · 92
A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a paracentric inversion
2004 · Morag N. Collinson, Siân E. Roberts, et al. · American Journal of Medical Genetics Part A · 78
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
2019 · Kathleen M. Gorman, Esther Meyer, et al. · The American Journal of Human Genetics · 63
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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
2015 · John C. K. Barber, Jill A. Rosenfeld, et al. · American Journal of Medical Genetics Part A · 59
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
2004 · John C K Barber, N Simon Thomas, et al. · European Journal of Human Genetics · 59
Pallister-Killian syndrome: a study of 22 British patients
2015 · Moira Blyth, Viv Maloney, et al. · Journal of Medical Genetics · 57
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy
2009 · Meena Balasubramanian, John C.K. Barber, et al. · American Journal of Medical Genetics Part A · 51
Functional disomy resulting from duplications of distal Xq in four unrelated patients
2004 · Katherine L. Lachlan, Morag N. Collinson, et al. · Human Genetics · 45
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
2018 · Erin R. Riggs, Tristan Nelson, et al. · Human Mutation · 38
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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
2016 · Jeremy F McRae, Stephen Clayton, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 38
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Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition
2015 · Tazeen Ashraf, Morag N. Collinson, et al. · American Journal of Medical Genetics Part A · 28
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH
2010 · Morag Collinson, Samantha J. Leonard, et al. · American Journal of Medical Genetics Part A · 27
The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysis
1990 · David O. Robinson, Yvonne Boyd, et al. · Genetics Research · 22
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Unbalanced translocation in a mother and her son in one of two 5;10 translocation families
1996 · John C. K. Barber, I. Karen Temple, et al. · American Journal of Medical Genetics · 19
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
2019 · Stuart Aitken, Helen V. Firth, et al. · The American Journal of Human Genetics · 10
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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
2017 · Mark S. Bateman, Morag N. Collinson, et al. · American Journal of Medical Genetics Part A · 10
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature
2016 · Claire G. Salter, Diana Baralle, et al. · American Journal of Medical Genetics Part A · 9
Works count: 38
Citation count: 2,480
H-index: 22
I10-index: 25
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