E. Kivuva

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Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

T. Eggermann, S. Mansour, I. Temple, 2015, Nature Communications.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

CHRNG genotype–phenotype correlations in the multiple pterygium syndromes

R. Touraine, S. Holder, J. Fryns, 2011, Journal of Medical Genetics.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

De Barsy syndrome: a review of the phenotype

M. Parker, B. Wagner, E. Kivuva, 2008, Clinical dysmorphology.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

S. Mehta, S. Mansour, I. Temple, 2010, European Journal of Human Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome

J. Lupski, P. Liu, L. Potocki, 2014, American journal of medical genetics. Part A.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

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

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

S. Ellard, H. Lango Allen, K. Stals, 2014, European Journal of Human Genetics.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, B. Kerr, 2019, European Journal of Human Genetics.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

S. Ellard, H. L. Allen, P. Brennan, 2016, Clinical endocrinology.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

Alice R. Clark, A. R. Clark, S. Robertson, 2015, Journal of Molecular Medicine.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

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

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

C. Toro, P. Chinnery, J. Rankin, 2023, bioRxiv.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.