N. S. Thomas

发表

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

N. Carter, V. Maloney, J. Crolla, 2008, American journal of human genetics.

Maternal folate polymorphisms and the etiology of human nondisjunction.

S. Schwartz, N. S. Thomas, P. Jacobs, 2001, American journal of human genetics.

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.

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

J. Rosenfeld, V. Maloney, J. Crolla, 2013, American journal of medical genetics. Part A.

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies

W. Tapper, N. S. Thomas, R. Pengelly, 2020, Human Genetics.

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

A. Sharp, N. S. Thomas, C. Watson, 2014, Human molecular genetics.

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

V. Maloney, C. Mercer, J. Barber, 2009, Cytogenetic and Genome Research.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

A de novo duplication of Xp11.22–p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome

L. Willatt, N. S. Thomas, S. Holden, 2010, American journal of medical genetics. Part A.

Zellweger syndrome resulting from maternal isodisomy of chromosome 1

H. Waterham, R. Wanders, N. S. Thomas, 2007, American journal of medical genetics. Part A.

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

J. Barber, C. Lundsteen, N. S. Thomas, 2005, European Journal of Human Genetics.

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

A. Need, H. Rehm, D. Baralle, 2022, Human Genetics.

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome.

J. Crolla, N. S. Thomas, I. Temple, 2011, European journal of medical genetics.

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.

Reiner Siebert, Zeynep Tümer, Karen Brondum-Nielsen, 2006, American journal of human genetics.

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

P. Donahoe, N. S. Thomas, S. Kantarci, 2008, American journal of medical genetics. Part A.

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

N. S. Thomas, P. Jacobs, M. Durkie, 2006, Human Genetics.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

A. Zinn, N. S. Thomas, J. Ross, 2016, Journal of Human Genetics.

Estimate of the prevalence of chromosome 15q11‐q13 duplications

N. S. Thomas, C. Browne, S. Roberts, 2003, American journal of medical genetics. Part A.

An 11p;17p telomeric translocation in two families associated with recurrent miscarriages andMiller-Dieker syndrome

N. S. Thomas, N. Dennis, C. Joyce, 2002, European Journal of Human Genetics.

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.

C. P. Morris, M. Rocchi, C. Schwartz, 1990, American journal of human genetics.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

V. Maloney, J. Crolla, N. S. Thomas, 2005, American journal of human genetics.

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

D. Baralle, H. Cross, N. S. Thomas, 2022, npj Genomic Medicine.

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

N. S. Thomas, P. Jacobs, K. Lachlan, 2005, Human Genetics.

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

M. Dattani, P. Hindmarsh, N. S. Thomas, 2021, Journal of the Endocrine Society.

Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans.

Karl J. Friston, John Ashburner, Karl J Friston, 2003, Brain : a journal of neurology.

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11‐q13

P. Bolton, N. S. Thomas, M. Veltman, 2006, American journal of medical genetics. Part A.

Aberrant recombination and the origin of Klinefelter syndrome.

N. S. Thomas, T. Hassold, T J Hassold, 2003, Human reproduction update.

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Shuwen Huang, C. Mercer, N. S. Thomas, 2013, European journal of medical genetics.

Atypical phenotype in a female with a large Xp deletion.

N. S. Thomas, S. Huson, 2001, American journal of medical genetics.

Xp deletions associated with autism in three females

D. Skuse, A. Sharp, N. S. Thomas, 1999, Human Genetics.

A study of females with deletions of the short arm of the X chromosome

D. Skuse, A. Sharp, N. S. Thomas, 1998, Human Genetics.

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

J. Gault, N. S. Thomas, J. Zonana, 1994, Journal of medical genetics.

L1 repeats in the spread of X chromosome inactivation

A. Sharp, N. S. Thomas, C. Watson, 2013 .

Investigation of the origins of human autosomal inversions

V. Maloney, N. S. Thomas, P. Jacobs, 2008, Human Genetics.

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

P. Bolton, N. S. Thomas, M. Veltman, 2004, European child & adolescent psychiatry.

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

J. Crolla, N. S. Thomas, P. Jacobs, 2011, European Journal of Human Genetics.

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age

B. Ng, J. Crolla, J. Baptista, 2009, Journal of Medical Genetics.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

R. Sandford, N. S. Thomas, P. Jacobs, 2006, European Journal of Human Genetics.

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities

V. Maloney, J. Crolla, N. S. Thomas, 2005, Cytogenetic and Genome Research.

Functional disomy resulting from duplications of distal Xq in four unrelated patients

R. Sandford, N. S. Thomas, P. Jacobs, 2004, Human Genetics.

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

J. Crolla, N. S. Thomas, P. Jacobs, 2003, American journal of human genetics.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region

J. Crolla, N. S. Thomas, S. Healey, 1999, Human Genetics.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

J. Crolla, N. S. Thomas, S. Healey, 1999 .

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.

A. Sharp, N. S. Thomas, P. Jacobs, 2001, Human molecular genetics.

A quantitative polymerase chain reaction method for determining copy number within the Prader–Willi/Angelman syndrome critical region

N. S. Thomas, S. Roberts, 2003, Clinical genetics.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004, Journal of Medical Genetics.

20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004 .

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

Shuwen Huang, V. Maloney, N. S. Thomas, 2009, Human Genetics.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

P. Bolton, N. S. Thomas, P. Jacobs, 2001, American journal of medical genetics.

Prader-Willi syndrome

P. Bolton, N. S. Thomas, M. Veltman, 2004, European Child & Adolescent Psychiatry.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

N. Carter, R. Sandstrom, H. Fiegler, 2005, Journal of Medical Genetics.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, A. Ruiz, 2022, medRxiv.

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

N. S. Thomas, J. Rankin, S. Tomkins, 2009, 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.

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

J. Clayton-Smith, N. S. Thomas, H. White, 2006, Human Genetics.

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

D. Eccles, N. S. Thomas, N. Cross, 2004, British Journal of Cancer.

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

V. Maloney, N. S. Thomas, J. Argente, 2006, American journal of human genetics.

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Shuwen Huang, V. Maloney, J. Barber, 2009, European Journal of Human Genetics.

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

P. Bolton, N. S. Thomas, S. Curran, 2005, Journal of child psychology and psychiatry, and allied disciplines.

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

G. Carlsson, J. Brandsma, N. S. Thomas, 2021, European Respiratory Journal.

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

A. Sharp, S. Eliez, N. S. Thomas, 2012, Human Genetics.

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

W. Reardon, N. S. Thomas, P. Phelps, 1992, American journal of medical genetics.

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

N. S. Thomas, F. Shawkat, C. Harris, 2007, Archives of ophthalmology.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Lck is a key target of imatinib and dasatinib in T-cell activation

N. S. Thomas, K. Lee, M. Bijlmakers, 2010, Leukemia.

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

P. Bolton, N. S. Thomas, E. Weisblatt, 2004, Psychiatric genetics.

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain

D. Baralle, I. Temple, N. S. Thomas, 2012, Molecular Syndromology.

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.

N. S. Thomas, E. Cross, D. Bunyan, 2020, European journal of medical genetics.

Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain

N. S. Thomas, E. Cross, D. Bunyan, 2020, American journal of medical genetics. Part A.

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

E. Molinari, H. Cordell, N. S. Thomas, 2022, Clinical genetics.

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

N. S. Thomas, D. Hunt, V. Mennella, 2021, BMC Medical Genomics.

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect

N. S. Thomas, J. Harvey, D. Bunyan, 2013, American journal of medical genetics. Part A.

Rare dosage abnormalities flanking the SHOX gene

N. S. Thomas, Michal Ajzensztejn, Z. Mohamed, 2021, Egyptian Journal of Medical Human Genetics.

AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination

N. S. Thomas, A. Offiah, S. Smithson, 2021, American journal of medical genetics. Part A.

RNA sequencing uplifts diagnostic rate in undiagnosed rare disease patients

D. Baralle, N. S. Thomas, D. Hunt, 2023, medRxiv.

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

N. S. Thomas, R. Pengelly, H. Mitchison, 2023, ERJ Open Research.

Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR

J. Barber, N. S. Thomas, S. Waite, 2002, Journal of medical genetics.

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

N. S. Thomas, D. Bunyan, 2019, European journal of medical genetics.

A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin

N. S. Thomas, P. Jacobs, T. Hassold, 2000, European Journal of Human Genetics.

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

D. Baralle, H. Cross, N. S. Thomas, 2022, NPJ genomic medicine.

Prader-Willi syndrome

N. S. Thomas, M. Veltman, J. Whittington, 2004, European Child & Adolescent Psychiatry.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, N. Whiffin, 2022, Genome Medicine.