Publications



PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
Lancet Diabetes Endocrinol 2017 Feb 29;5(2):97-105. Epub 2016 Nov 29.
Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK. Electronic address:


Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
Am J Hum Genet 2017 Jan 22;100(1):51-63. Epub 2016 Dec 22.
Division of Cardiovascular Medicine, Department of Internal Medicine, Department of Human Genetics, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address:


The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Nat Genet 2016 Oct 12;48(10):1171-1184. Epub 2016 Sep 12.
Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.

Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study.
J Am Coll Cardiol 2016 Aug;68(9):934-45
Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands; Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht, the Netherlands; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom. Electronic address:

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
Brain 2016 Jun 5;139(Pt 6):1666-72. Epub 2016 May 5.
2 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA 10 Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, MA, USA 12 Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk.
Hum Genet 2016 May 5;135(5):453-67. Epub 2016 Mar 5.
Department of Surgery, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA.

The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians.
Hum Genomics 2016 Mar 2;10. Epub 2016 Mar 2.
Institute for Research and Medical Consultation, University of Dammam, P.O.Box 1982, Dammam, 31441, Kingdom of Saudi Arabia.



Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics 2016 Jan 18;10. Epub 2016 Jan 18.
Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics 2015 Nov 11;9:31. Epub 2015 Nov 11.
Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.



Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration.
J Lipid Res 2015 Sep 21;56(9):1781-6. Epub 2015 Jul 21.
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA Division of Transplantation, Department of Surgery, University of Pennsylvania, Philadelphia, PA.



Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Hum Mol Genet 2015 Apr 2;24(8):2297-307. Epub 2015 Jan 2.
Genetic Metabolic Disorders Research Unit, Discipline of Paediatrics and Child Health and Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia,


Mendelian randomization of blood lipids for coronary heart disease.
Eur Heart J 2015 Mar 27;36(9):539-50. Epub 2014 Jan 27.
Genetic Epidemiology Group, Institute of Cardiovacular Science, Faculty of Population Healh Sciences, University College London, 1-19 Torrington Place, London WC1E 6BT, UK Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, Keppel Street, London WC1E 7HT, UK.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Clin Exp Ophthalmol 2015 Mar 2;43(2):132-8. Epub 2014 Oct 2.
Eye and Developmental Genetics Research Group, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Eye Genetics Group, Children's Medical Research Institute, Sydney, New South Wales, Australia.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Neuromuscul Disord 2015 Mar 10;25(3):257-61. Epub 2014 Dec 10.
BGI-Shenzhen, Shenzhen 518083, China; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, Shenzhen, China.

Subclinical atherosclerosis and increased risk of hearing impairment.
Atherosclerosis 2015 Feb 20;238(2):344-9. Epub 2014 Dec 20.
Department of Ophthalmology and Visual Sciences, University of Wisconsin, 610 Walnut Street, Madison, WI, 53726, USA; Department of Population Health Sciences, University of Wisconsin, 610 Walnut Street, Madison, WI, 53726, USA. Electronic address:

HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.
Lancet 2015 Jan 24;385(9965):351-61. Epub 2014 Sep 24.
BHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK.


Testing for non-linear causal effects using a binary genotype in a Mendelian randomization study: application to alcohol and cardiovascular traits.
Int J Epidemiol 2014 Dec 5;43(6):1781-90. Epub 2014 Sep 5.
Faculty of Epidemiology and Population Health, Centre for Statistical Methodology and Bloomsbury Centre for Genetic Epidemiology and Statistics, London School of Hygiene and Tropical Medicine, London, UK, Department of Epidemiology and Public Health, University College London, London, UK, MRC Integrative Epidemiology Unit and School of Social and Community Medicine, University of Bristol, Bristol, UK, Genetics, R & D, GlaxoSmithKline, Stevenage, UK, Division of Health Sciences, University of Warwick, Warwick, Coventry, UK, Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA and Institute of Cardiovascular Science, University College London, London, UK Faculty of Epidemiology and Population Health, Centre for Statistical Methodology and Bloomsbury Centre for Genetic Epidemiology and Statistics, London School of Hygiene and Tropical Medicine, London, UK, Department of Epidemiology and Public Health, University College London, London, UK, MRC Integrative Epidemiology Unit and School of Social and Community Medicine, University of Bristol, Bristol, UK, Genetics, R & D, GlaxoSmithKline, Stevenage, UK, Division of Health Sciences, University of Warwick, Warwick, Coventry, UK, Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA and Institute of Cardiovascular Science, University College London, London, UK Faculty of Epidemiology and Population Health, Centre for Statistical Methodology and Bloomsbury Centre for Genetic Epidemiology and Statistics, London School of Hygiene and Tropical Medicine, London, UK, Department of Epidemiology and Public Health, University College London, London, UK, MRC Integrative Epidemiology Unit and School of Social and Community Medicine, University of Bristol, Bristol, UK, Genetics, R & D, GlaxoSmithKline, Stevenage, UK, Division of Health Sciences, University of Warwick, Warwick, Coventry, UK, Center for Applied Genomics





Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
BMJ 2014 Jul 10;349:g4164. Epub 2014 Jul 10.
Genetic Epidemiology Group, Institute of Cardiovascular Science, Department of Epidemiology and Public Health, University College London, UK Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, WC1E 7HT, UK

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.
Eur J Hum Genet 2014 Jun 20;22(6):715-23. Epub 2013 Nov 20.
1] Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [2] Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [3] Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA [4] Division of Transplantation, Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
Hum Mol Genet 2014 May 17;23(9):2498-510. Epub 2013 Dec 17.
Gillings School of Global Public Health.


Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.
Am J Hum Genet 2014 Mar 20;94(3):349-60. Epub 2014 Feb 20.
Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.
Am J Hum Genet 2014 Feb 23;94(2):198-208. Epub 2014 Jan 23.
Division of Transplantation, Department of Surgery, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA; Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA. Electronic address:

Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study.
J Am Coll Cardiol 2013 Nov 31;62(21):1966-1976. Epub 2013 Jul 31.
Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, United Kingdom.

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
Am J Hum Genet 2013 Sep 22;93(3):545-54. Epub 2013 Aug 22.
Department of Epidemiology, University of North Carolina at Chapel Hill, NC 27599, USA.

Genetic variance in nitric oxide synthase and endothelin genes among children with and without endothelial dysfunction.
J Transl Med 2013 Sep 25;11:227. Epub 2013 Sep 25.
Department of Pediatrics, Comer Children's Hospital, Pritzker School of Medicine, Biological Sciences Division, The University of Chicago, 900 E, 57th Street, KCBD, 4112, Chicago 60637, IL, USA.



A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
Nat Genet 2013 Jun 14;45(6):690-6. Epub 2013 Apr 14.
The Center for Observational Research, Amgen, Inc. Thousand Oaks, California, USA.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:


Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Hum Mol Genet 2013 Apr 8;22(8):1663-78. Epub 2013 Jan 8.
Division of Cardiovascular Medicine, University of Michigan Health System, Ann Arbor, MI, USA.


Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Am J Hum Genet 2012 Nov 11;91(5):823-38. Epub 2012 Oct 11.
Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands.



Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Am J Hum Genet 2012 Mar 9;90(3):410-25. Epub 2012 Feb 9.
Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Lancet 2012 Mar 14;379(9822):1214-24. Epub 2012 Mar 14.

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
PLoS Genet 2011 Oct 6;7(10):e1002298. Epub 2011 Oct 6.
Montreal Heart Institute, Montréal, Canada.


The landscape of recombination in African Americans.
Nature 2011 Jul 20;476(7359):170-5. Epub 2011 Jul 20.
Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, UK.









Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Am J Hum Genet 2011 Jan 30;88(1):6-18. Epub 2010 Dec 30.
Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, N6A 5C1, Canada.





Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
Circ Cardiovasc Genet 2010 Apr 2;3(2):147-54. Epub 2010 Feb 2.
Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, USA.




IBC CARe microarray allelic population prevalences in an American Indian population.
PLoS One 2013 6;8(9):e75080. Epub 2013 Sep 6.
Science Department, Turtle Mountain Community College, Belcourt, North Dakota, United States of America ; School of Medicine and Health Sciences, University of North Dakota, Grand Forks, North Dakota, United States of America.



Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations.
Genome Med 2014 31;6(10):91. Epub 2014 Oct 31.
The Center for Applied Genomics, 1,016 Abramson Building, The Children's Hospital of Philadelphia, Philadelphia, PA 19104 USA ; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 USA ; Department of Surgery, Division of Transplantation, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 USA.


Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).
BioData Min 2015 14;8:41. Epub 2015 Dec 14.
Institute for Quantitative Biomedical Sciences at Dartmouth, Hanover, NH USA ; Department of Epidemiology, Geisel School of Medicine at Dartmouth, One Medical Center Drive, 7927 Rubin Building, Lebanon, NH 03756 USA.


Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
JIMD Rep 2017 26;32:117-124. Epub 2016 Jun 26.
Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia.


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