M. Splitt

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Janet M Thornton, Roman A Laskowski, Caroline F Wright, 2017, Molecular genetics & genomic medicine.

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.

Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography.

J. Simpson, H. Gill, M. Splitt, 2003, Journal of the American College of Cardiology.

Quantifying the contribution of recessive coding variation to developmental disorders

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

James D Stephenson, Patrick J. Short, M. Hurles, 2017 .

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

J. Thornton, R. Laskowski, H. Firth, 2016, Human molecular genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

consecutive pregnancies evaluated by detailed fetal echocardiography Patterns of recurrence of congenital heart disease: An analysis of 6,640

J. Simpson, H. Gill, M. Splitt, 2008 .

FHF1 (FGF12) epileptic encephalopathy

J. Rosenfeld, Yaping Yang, F. Xia, 2016, Neurology: Genetics.

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

R. Regan, J. Flint, S. Knight, 2001, Journal of medical genetics.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

S. Seal, N. Rahman, I. Temple, 2013, American journal of medical genetics. Part A.

A constitutional telomeric translocation showing meiotic instability

C. Ogilvie, D. Josifova, M. Splitt, 2006, American journal of medical genetics. Part A.

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

I. Temple, C. Gicquel, D. Mackay, 2011, European Journal of Human Genetics.

The Phenotypic Continuum of ATPLA3-Related Disorders.

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.

Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?

A. Rauch, M. Splitt, G. Tanteles, 2006, Clinical dysmorphology.

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

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Dry skin and blistering in childhood

M. Splitt, A. Dubois, N. Rajan, 2016, Clinical and experimental dermatology.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

J. Clayton-Smith, S. Ellard, K. Stals, 2018, European Journal of Human Genetics.

Defects in the determination of left-right asymmetry.

J. Goodship, J. Burn, J. Goodship, 1996, Journal of medical genetics.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Class II neocentromeres: a putative common neocentromere site in band 4q21.2

C. Ogilvie, M. Splitt, D. Maxwell, 2003, European Journal of Human Genetics.

Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood

A. Pickles, D. Baralle, T. Charman, 2022, Molecular autism.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, W. Newman, 2021, Nature communications.

Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation

M. Splitt, C. Moss, N. Rajan, 2017, The British journal of dermatology.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

T. Berney, K. Davies, S. Knight, 1996, American journal of human genetics.

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.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2011, Oncotarget.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

S. Scherer, B. Chung, C. Cytrynbaum, 2020, American journal of human genetics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

S. Hellens, M. Splitt, S. Zwolinski, 2012, Clinical dysmorphology.

Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals

A. Green, M. Parker, B. Castle, 2018, American journal of medical genetics. Part A.

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

A. Karmiloff-Smith, J. Grant, W. Reardon, 1999, American journal of human genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Another case of maternal uniparental disomy chromosome 14 syndrome.

J. Goodship, M. Splitt, 1997, American journal of medical genetics.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Mutations inPNPLA6are linked to photoreceptor degeneration and various forms of childhood

D. Sharon, Rui Chen, P. Chinnery, 2015 .

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

J. Clayton-Smith, J. Goodship, H. Stewart, 2008, American journal of human genetics.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

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

Alexander F. Schier, Rebecca D. Burdine, Jeffrey A. Towbin, 2000, Nature Genetics.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

C. Saunders, A. Fry, V. Faundes, 2021, Nature Communications.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

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

Mosaicism in Hartsfield syndrome.

S. Annavarapu, D. Butteriss, M. Splitt, 2022, European journal of medical genetics.

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

R. Newbury-Ecob, M. Splitt, A. Weber, 2018, European Journal of Human Genetics.

Phenotypic spectrum associated with de novo mutations in QRICH1 gene

A. Brady, J. Dean, M. Splitt, 2018, Clinical genetics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Development of the Heart

Peter J. Scambler, John Burn, D I Wilson, 2019, Pathology of Heart Disease in the Fetus, Infant and Child.

Connexin43 mutations in sporadic and familial defects of laterality.

J. Burn, J. Goodship, M. Splitt, 1995, The New England journal of medicine.

22q11 Deletion in children with cleft lip and palate--is routine screening justified?

T. Montgomery, M. Splitt, P. Hodgkinson, 2008, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma

A. Fenton, M. Splitt, N. Banait, 2015, BMJ Case Reports.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

S. Klauck, A. Poustka, S. Lindsay, 2002, American journal of human genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Fetal hydrops: diagnosis and prognosis

S. Robson, M. Splitt, G. Waring, 2018, Archives of Disease in Childhood.

Neonatal teeth in X-linked Opitz (G/BBB) syndrome

A. Shaw, M. Irving, M. Splitt, 2006, Clinical dysmorphology.

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.

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

J. Goodship, H. Gill, M. Splitt, 2000, American journal of human genetics.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

L. Bouneau, C. Rooryck, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Left-isomerism sequence and maternal type-1 diabetes

J. Goodship, M. Splitt, C. Wright, 1999, The Lancet.

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

M. Irving, M. Splitt, R. Roberts, 2003, Journal of medical genetics.

Early development of infants with neurofibromatosis type 1: a case series

P. Bolton, A. Pickles, S. Baron-Cohen, 2017, Molecular Autism.

Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation

M. Splitt, N. Rajan, S. Natarajan, 2015, Clinical and experimental dermatology.

Whitaker S, Leech S, Taylor A, Splitt M, Natarajan S, Rajan N. Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1

M. Splitt, N. Rajan, S. Natarajan, 2015 .

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

R. Newbury-Ecob, M. Splitt, A. Weber, 2018, European Journal of Human Genetics.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications

A. Siddiqui, N. Dlamini, M. Splitt, 2009, American journal of medical genetics. Part A.

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.

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

M. Weedon, S. Ellard, M. Wabitsch, 2020, Wellcome open research.

Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.

J. Goodship, J. Burn, J. Goodship, 1997, Heart.

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)

Alcino J. Silva, R. Emsley, Jonathan Green, 2018, Molecular Autism.

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

A. Clarke, S. Berland, L. Greenhalgh, 2023, European Journal of Human Genetics.

Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism.

R. Forsyth, M. Splitt, M. Clarke, 2008, Clinical dysmorphology.

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

W. Newman, S. Huson, E. Miles, 2016, EBioMedicine.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.