J. Bentham

发表

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Marc Gewillig, Rachel Soemedi, Koenraad Devriendt, 2012, American journal of human genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

M. Hurles, K. Devriendt, S. Bhattacharya, 2015, Genetics in Medicine.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

H. Cordell, S. Bhattacharya, B. Keavney, 2012, Circulation. Cardiovascular genetics.

Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation

M. Farrall, H. Cordell, S. Bhattacharya, 2009, PloS one.

Rare variants in NR2F2 cause congenital heart defects in humans.

Marc Gewillig, Matthew E Hurles, Reiner Siebert, 2014, American journal of human genetics.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Some chronic obstructive pulmonary disease will originate in neonatal intensive care units.

J. Bentham, N. Shaw, 2005, Paediatric respiratory reviews.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Lathrop, 2019, Circulation research.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Bourque, 2018, bioRxiv.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

M. Hurles, K. Devriendt, M. Lathrop, 2011, Human molecular genetics.

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

S. Heath, G. Lathrop, M. Farrall, 2013, Nature Genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

S. Heath, G. Lathrop, A. Moorman, 2013, Human molecular genetics.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Genetic Mechanisms Controlling Cardiovascular Development

S. Bhattacharya, J. Bentham, 2008, Annals of the New York Academy of Sciences.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

Roger E. Stevenson, Alessandra Renieri, Bernard Keavney, 2015 .

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.

Steve D. M. Brown, J. Ragoussis, A. Prat, 2008, Genes & development.

Pcsk5in mice with mutation in the proprotein convertase VACTERL/caudal regression/Currarino syndrome-like

Steve D. M. Brown, A. Prat, N. Seidah, 2008 .

5 malformations in mice with mutation in the proprotein convertase VACTERL / caudal regression / Currarino syndrome-like data

Steve D. M. Brown, J. Ragoussis, A. Prat, 2008 .

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

G. J. Swaminathan, M. Hurles, R. Siebert, 2016, American journal of human genetics.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls Running title: Mamasoula: MTHFR C677T polymorphism and congenital heart disease

G. Lathrop, M. Farrall, D. Zélénika, 2017 .

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

G. Lathrop, M. Farrall, A. Moorman, 2013, Circulation. Cardiovascular genetics.

Association between C 677 T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease : Meta-Analysis of 7 , 697 Cases and 13 , 125 Controls Running title : Mamasoula : MTHFR C 677 T polymorphism and congenital heart disease

Faith, G. Lathrop, D. Zélénika, 2013 .

Functional Significance of SRJ Domain Mutations in CITED2

S. Bamforth, S. Bhattacharya, H. Watkins, 2012, PloS one.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Blood pressure in the neonate

J. Bentham, A. Michael Weindling, 2005, Acta paediatrica.

Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left–right patterning defects

S. Bhattacharya, H. Lockstone, J. Bentham, 2010, Human molecular genetics.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

S. Bhattacharya, B. Keavney, J. Goodship, 2013, BMC Genetics.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

M. Farrall, K. Devriendt, D. Zélénika, 2013, Circulation. Cardiovascular genetics.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.