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Author Details

Hilary C Martin
Wellcome Sanger Institute
2010
36
21
PMIDPaper TitleJournal TitlePublished Year
37339320Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.J Clin Endocrinol Metab2023
37757828Influence of autozygosity on common disease risk across the phenotypic spectrum.Cell2023
37596117Discovering genes that affect cognitive ability.Trends Genet2023
37592024Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes.Nat Genet2023
37339320Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.J Clin Endocrinol Metab2023
37248299Polygenic prediction of preeclampsia and gestational hypertension.Nat Med2023
37757828Influence of autozygosity on common disease risk across the phenotypic spectrum.Cell2023
37596117Discovering genes that affect cognitive ability.Trends Genet2023
37592024Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes.Nat Genet2023
37248299Polygenic prediction of preeclampsia and gestational hypertension.Nat Med2023
35322230Reduced reproductive success is associated with selective constraint on human genes.Nature2022
35587468Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.PLoS Med2022
35945198Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.Nat Commun2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
35322230Reduced reproductive success is associated with selective constraint on human genes.Nature2022
35587468Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.PLoS Med2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
35945198Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.Nat Commun2022
34352227The genomic history of the Middle East.Cell2021
33536628Author Correction: Evaluating drug targets through human loss-of-function genetic variation.Nature2021
34352227The genomic history of the Middle East.Cell2021
34626536Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.Am J Hum Genet2021
34732894MC3R links nutritional state to childhood growth and the timing of puberty.Nature2021
33536628Author Correction: Evaluating drug targets through human loss-of-function genetic variation.Nature2021
34732894MC3R links nutritional state to childhood growth and the timing of puberty.Nature2021
34626536Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.Am J Hum Genet2021
32482185Nature via Nurture, the Martin Way.Twin Res Hum Genet2020
32482185Nature via Nurture, the Martin Way.Twin Res Hum Genet2020
32888493Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.Cell2020
32888493Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.Cell2020
30859559Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.Clin Genet2019
30859559Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.Clin Genet2019
31363758Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.Hum Mol Genet2019
31363758Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.Hum Mol Genet2019
29688544Insights into Platypus Population Structure and History from Whole-Genome Sequencing.Mol Biol Evol2018
30258228Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.Nature2018
30409806Quantifying the contribution of recessive coding variation to developmental disorders.Science2018
29688544Insights into Platypus Population Structure and History from Whole-Genome Sequencing.Mol Biol Evol2018
30258228Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.Nature2018
30409806Quantifying the contribution of recessive coding variation to developmental disorders.Science2018
29016847A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.Hum Mol Genet2017
29016847A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.Hum Mol Genet2017
27087319Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.Am J Hum Genet2016
27132594Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.Am J Hum Genet2016
27087319Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.Am J Hum Genet2016
27132594Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.Am J Hum Genet2016
25537359Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.Eur J Hum Genet2015
25537359Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.Eur J Hum Genet2015
26122175Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.Clin Immunol2015
25985138Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.Nat Genet2015
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Collaborators

Peter Donnelly
University of Oxford
Co-authored papers 7
Jenny C Taylor
University of Oxford
Co-authored papers 7
Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Co-authored papers 6
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 5
Richard C Trembath
Co-authored papers 5
Katia Nones
QIMR Berghofer Medical Research Institute
Co-authored papers 5
Sean M Grimmond
The University of Melbourne
Co-authored papers 4
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 4
David R Bentley
Illumina Cambridge Ltd.
Co-authored papers 4
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
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Nicola Waddell
QIMR Berghofer Medical Research Institute
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Ken K Ong
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Co-authored papers 3
Alexander Kanapin
Co-authored papers 3
John R B Perry
Co-authored papers 3
Scott D Gordon
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Helen V Firth
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Nicholas G Martin
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Gil McVean
Big Data Institute, University of Oxford
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Sunil R Lakhani
University of Queensland
Co-authored papers 3
Girish N Nadkarni
Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Jeffrey C Barrett
Co-authored papers 2
Julian C Knight
University of Oxford
Co-authored papers 2
John Wright
Co-authored papers 2
Grant W Montgomery
Co-authored papers 2
Nicole Soranzo
Wellcome Sanger Institute
Co-authored papers 2
Hamdi Mbarek
Vrije Universiteit
Co-authored papers 2
Jouke-Jan Hottenga
Co-authored papers 2
Patrick F Bolton
Co-authored papers 2
Dorret I Boomsma
Co-authored papers 2
Release 1.2