B. Castle

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

V. Maloney, N. S. Thomas, B. Castle, 2004, American journal of medical genetics. Part A.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

J. R. Wilson, David M. Holden, P. W. Foster, 2016, British Journal of Cancer.

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

D. Cooper, S. Huson, M. Upadhyaya, 2003, Journal of medical genetics.

implications for chemoprevention BRCA1 mutation and neuronal migration defect

B. Castle, D. Eccles, D. Bunyan, 2006 .

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation

J. Rankin, C. Hanemann, P. Turnpenny, 2013, American journal of medical genetics. Part A.

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.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

A. Moore, M. Lees, B. Castle, 2013, Journal of Medical Genetics.

Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene.

F. Cremers, G. Arno, A. Webster, 2022, Ophthalmology.

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity

A. Warren, M. Tischkowitz, Hannah D. West, 2020, Genes, chromosomes & cancer.

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.

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

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

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Clinical features in a family with an R460H mutation in transforming growth factor β receptor 2 gene

I. Simpson, B. Castle, B. Keeton, 2006, Journal of Medical Genetics.

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.

Transmitted duplication of 12q21.32–12q22 includes 48 genes and has no apparent phenotypic consequences

J. Barber, N. S. Thomas, M. Kirchhoff, 2007, American journal of medical genetics. Part A.

Anophthalmia–esophageal–genital syndrome: A further case to define the phenotype

D. Pilz, B. Castle, Clare J. Hill, 2005, American journal of medical genetics. Part A.

Anomalous ovarian morphology in a patient with craniofrontonasal syndrome

B. Castle, S. Eckford, S. Rundle, 2013, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

E. Tobias, B. Lorenz, J. Hurst, 2019, Genetics in Medicine.

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

Colin A. Johnson, C. Logan, H. Lindsay, 2012, Cilia.

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

P. D. de Jong, A. Plomp, H. Kingston, 2008, Molecular vision.

Resolution of left ventricular and asymmetric septal hypertrophy after resection of left ventricular outflow obstruction in a patient with troponin-positive hypertrophic obstructive cardiomyopathy: a case report

G. Veldtman, B. Castle, S. Narsupalli, 2010, Cardiology in the Young.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

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.

BRCA1 mutation and neuronal migration defect: implications for chemoprevention

B. Castle, D. Eccles, D. Bunyan, 2005, Journal of Medical 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.

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

S. Ellard, R. Caswell, S. Smithson, 2018, American journal of medical genetics. Part A.

PO-0612 An Unexpected Digit Dilemma – A Case Of Mirror Image Duplication Of Both Hands And Feet

B. Castle, J. Clegg, Y. Kumar, 2014, Archives of Disease in Childhood.

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.

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

N. Rahman, M. Thomas, R. Houlston, 2010 .

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNAâ€“protein interaction

E. Tobias, P. Calvas, J. Marsh, 2019 .

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

P. D. de Jong, A. Plomp, H. Kingston, 2008, Molecular vision.