Researcher profile · Semantic Scholar

E. Kivuva

h-index: 16
Works: 27
Citations: 2,176

Most-cited papers

Large-scale discovery of novel genetic causes of developmental disorders
T. Fitzgerald, SS Gerety, WD Jones, M. van Kogelenberg +261 more
2014Nature1,070 citations Open access
Semantic Scholar
Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans
L. Docherty, F. Rezwan, R. Poole, C. Turner +17 more
2015Nature Communications161 citations Open access
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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
N. Chandler, Sunayna K. Best, Jane D. Hayward, F. Faravelli +6 more
2018Genetics in Medicine149 citations Open access
Semantic Scholar
Clinical and Genetic Aspects of KBG Syndrome
K. Low, T. Ashraf, N. Canham, J. Clayton-Smith +26 more
2016American Journal of Medical Genetics. Part A133 citations Open access
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
S. Moortgat, S. Berland, I. Aukrust, I. Maystadt +29 more
2017European Journal of Human Genetics102 citations Open access
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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
K. Stals, M. Wakeling, Julia Baptista, R. Caswell +37 more
2017Prenatal Diagnosis68 citations Open access
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An exome sequencing strategy to diagnose lethal autosomal recessive disorders
S. Ellard, E. Kivuva, P. Turnpenny, K. Stals +4 more
2014European Journal of Human Genetics57 citations Open access
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CHRNG genotype–phenotype correlations in the multiple pterygium syndromes
J. Vogt, N. Morgan, P. Rehal, L. Faivre +11 more
2011Journal of Medical Genetics53 citations
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De Barsy syndrome: a review of the phenotype
E. Kivuva, M. Parker, Marta C. Cohen, B. Wagner +1 more
2008Clinical Dysmorphology52 citations
Semantic Scholar
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis +297 more
2016bioRxiv50 citations Open access
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
L. Lenaerts, S. Reynhout, Iris Verbinnen, F. Laumonnier +48 more
2020Genetics in Medicine47 citations Open access
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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
Eric A. Muller, S. Aradhya, Joan F. Atkin, Erin P. Carmany +12 more
2012American Journal of Medical Genetics. Part A47 citations Open access
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
M. Bernkopf, Ummi B. Abdullah, S. Bush, K. Wood +41 more
2023Nature Communications41 citations Open access
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Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome
P. Magoulas, Peng-Fei Liu, Violet Gelowani, Claudia Soler-Alfonso +3 more
2014American Journal of Medical Genetics. Part A37 citations
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
E. Palmer, Raman Kumar, C. Gordon, M. Shaw +38 more
2017American Journal of Human Genetics32 citations Open access
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder
R. Martin, M. Splitt, D. Geneviève, E. Aten +19 more
2019European Journal of Human Genetics28 citations Open access
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SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B
M. Owens, E. Kivuva, A. Quinn, P. Brennan +4 more
2016Clinical Endocrinology15 citations Open access
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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
M. van Kogelenberg, A. R. Clark, Z. Jenkins, Tim Morgan +13 more
2015Journal of molecular medicine13 citations
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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
F. Ceroni, M. B. Cicekdal, R. Holt, Elena A. Sorokina +16 more
2024Nature Communications9 citations Open access
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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
H. Copeland, K. Low, Sarah L. Wynn, Ayesha Ahmed +88 more
2024Genetics in medicine open8 citations Open access
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
Bruce Nmezi, Guillermo Rodriguez Bey, T. Oranburg, Kseniia Dudnyk +29 more
2025Nature Communications4 citations Open access
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
Bruce Nmezi, Guillermo Rodriguez Bey, T. Oranburg, Kseniia Dudnyk +29 more
2023bioRxiv3 citations Open access
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Familial 46,XX Ovotesticular Differences in Sex Development Associated With an NR5A1 p.Arg92Trp Variant.
Manju Chandwani, Thabitha J. Hoole, Elizabeth Crowne, E. Kivuva +3 more
2026Hormone Research in Paediatrics0 citations
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Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.
K. Gunawardena, Alessandro De Falco, D. Osio, Eleanor Sherlock +10 more
2026American Journal of Medical Genetics. Part C, Seminars in Medical Genetics0 citations Open access
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"Variable phenotypic expression of NR5A1 mutation in a family: sex development abnormalities and management challenges"
Muhammad Ahmad, Manju Chandwani, Sumana Chatterjee, T. Candler +7 more
2025Endocrine Abstracts0 citations
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2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Y. Crow, D. Mariella, Alessandro, T. Dabir +224 more
20190 citations
Semantic Scholar
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
M. van Kogelenberg, A. R. Clark, Z. Jenkins, Tim Morgan +13 more
2015Journal of molecular medicine0 citations
Semantic Scholar
Diagnosis of lethal or prenatal ‐ onset autosomal recessive Diagnosis of lethal or prenatal onset autosomal recessive disorders by parental exome sequencing disorders by parental exome sequencing
K. Stals, M. Wakeling, Júlia Baptista, R. Caswell +37 more
0 citations
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P. Turnpenny

×7

B. Castle×6

J. Eason×6

F. Elmslie×6

N. Shannon×6

E. Wakeling×6

C. Deshpande×5

U. Kini×5