Dr Hilary Martin | Group leader

Martin, Hilary

Hilary's work focuses on the analysis of high-throughput sequence and genotype data from large cohorts to address various medical and population genetic questions. Her group studies the genetic architecture of rare and common disorders in diverse populations.

In 2011, after my undergraduate studies in genetics at the University of Queensland, I started my PhD with Peter Donnelly at the Wellcome Trust Centre for Human Genetics in Oxford. There, I worked on an eclectic set of projects. As part of the WGS500 project (clinical whole-genome sequencing of various disorders), I analysed data from families with severe neurological diseases, and also evaluated different approaches for pinpointing causal mutations. I also conducted a meta-analysis of multiple cohorts in order to address the effect of maternal age on recombination rates, which had previously been controversial. Finally, I worked on population sequencing study of the platypus to investigate the population structure and history of this unique species, as well as its ten sex chromosomes.

I moved to the Sanger Institute in 2016 as a postdoc with Jeff Barrett. My major focus was on exploring genetic architecture in the Deciphering Developmental Disorders (DDD) study, a large cohort of exome-sequenced individuals with rare developmental disorders. Specifically, I looked at the role of rare recessive variants and polygenic risk.  

I became a Group Leader in Human Genetics in September 2018. My group analyses large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases. We have a particular focus on populations with high levels of parental relatedness (consanguinity).

Publications

  • Quantifying the contribution of recessive coding variation to developmental disorders.

    Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M et al.

    Science (New York, N.Y.) 2018;362;6419;1161-1164

  • Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

    Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S et al.

    Nature 2018;562;7726;268-271

  • Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people.

    Finer S, Martin HC, Khan A, Hunt KA, MacLaughlin B et al.

    International journal of epidemiology 2019

  • A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

    Davies B, Brown LA, Cais O, Watson J, Clayton AJ et al.

    Human molecular genetics 2017;26;20;3869-3882

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

    Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB et al.

    Nature genetics 2015;47;7;717-726

  • Multicohort analysis of the maternal age effect on recombination.

    Martin HC, Christ R, Hussin JG, O'Connell J, Gordon S et al.

    Nature communications 2015;6;7846

  • Insights into Platypus Population Structure and History from Whole-Genome Sequencing.

    Martin HC, Batty EM, Hussin J, Westall P, Daish T et al.

    Molecular biology and evolution 2018;35;5;1238-1252

  • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL et al.

    Human molecular genetics 2014;23;12;3200-11

  • Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs.

    Martin HC, Wani S, Steptoe AL, Krishnan K, Nones K et al.

    Genome biology 2014;15;3;R51

  • Evolution of a membrane protein regulon in Saccharomyces.

    Martin HC, Roop JI, Schraiber JG, Hsu TY and Brem RB

    Molecular biology and evolution 2012;29;7;1747-56

  • Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people.

    Finer S, Martin HC, Khan A, Hunt KA, MacLaughlin B et al.

    International journal of epidemiology 2019

  • Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

    Pagnamenta AT, Heemeryck P, Martin HC, Bosc C, Peris L et al.

    Human molecular genetics 2019

  • Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

    Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC et al.

    Clinical genetics 2019;95;6;693-703

  • A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

    Davies B, Brown LA, Cais O, Watson J, Clayton AJ et al.

    Human molecular genetics 2017;26;20;3869-3882

  • Linear mixed model for heritability estimation that explicitly addresses environmental variation.

    Heckerman D, Gurdasani D, Kadie C, Pomilla C, Carstensen T et al.

    Proceedings of the National Academy of Sciences of the United States of America 2016;113;27;7377-82

  • Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.

    Mbarek H, Steinberg S, Nyholt DR, Gordon SD, Miller MB et al.

    American journal of human genetics 2016;98;5;898-908

  • Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

    van Schouwenburg PA, Davenport EE, Kienzler AK, Marwah I, Wright B et al.

    Clinical immunology (Orlando, Fla.) 2015;160;2;301-14

  • Multicohort analysis of the maternal age effect on recombination.

    Martin HC, Christ R, Hussin JG, O'Connell J, Gordon S et al.

    Nature communications 2015;6;7846

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

    Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB et al.

    Nature genetics 2015;47;7;717-726

  • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL et al.

    Human molecular genetics 2014;23;12;3200-11

  • Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs.

    Martin HC, Wani S, Steptoe AL, Krishnan K, Nones K et al.

    Genome biology 2014;15;3;R51

  • Evolution of a membrane protein regulon in Saccharomyces.

    Martin HC, Roop JI, Schraiber JG, Hsu TY and Brem RB

    Molecular biology and evolution 2012;29;7;1747-56

  • MicroRNAs and their isomiRs function cooperatively to target common biological pathways.

    Cloonan N, Wani S, Xu Q, Gu J, Lea K et al.

    Genome biology 2011;12;12;R126

  • Geographical genomics of human leukocyte gene expression variation in southern Morocco.

    Idaghdour Y, Czika W, Shianna KV, Lee SH, Visscher PM et al.

    Nature genetics 2010;42;1;62-7

Martin, Hilary
Hilary's Timeline
2018

started Group Leader position at Sanger

2016

started Research Fellowship at St John's College, Cambridge

started postdoc at Sanger

2015

finished PhD in Oxford

2011

started PhD at Wellcome Centre for Human Genetics, Oxford

finished BSc (Human Genetics) at the University of Queensland, Australia