Matthew E. Hurles
- Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language
2000/12/01 by Zoë H. Rosser, Tatiana Zerjal, Matthew E. Hurles +79 · 68 citations
Biochemistry, Genetics and Molecular Biology · #Allele #Biology #Cline (biology) #Demography #Evolutionary biology #Forensic and Genetic Research #Genetic diversity and population structure #Genetics #Geographical distance #Geography #Haplogroup #Haplotype #Population #Population genetics #Race, Genetics, and Society
- The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages
2005/04/15 by Matthew E. Hurles, Bryan Sykes, Bryan C. Sykes +2 · 26 citations
Environmental Science · Social Sciences · #Demographic Trends and Gender Preferences #Global Maritime and Colonial Histories #Rangeland Management and Livestock Ecology
- A global reference for human genetic variation
2015/09/29 by Corresponding authors, Adam Auton, Richard Durbin +90 · 62 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #Genomics and Phylogenetic Studies
- Mitochondrial DNA and the origins of the domestic horse
2002/07/18 by Thomas Jansen, Peter Forster, Marsha A. Levine +5 · 19 citations
Biochemistry, Genetics and Molecular Biology · Veterinary · #Genetic diversity and population structure #Genetic and phenotypic traits in livestock #Veterinary Equine Medical Research
- Male Demography in East Asia: A North–South Contrast in Human Population Expansion Times
2006/02/20 by Yali Xue, Tatiana Zerjal, Weidong Bao +9 · 10 citations
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · Earth and Planetary Sciences · #Forensic and Genetic Research #Forensic Anthropology and Bioarchaeology Studies #Archaeology and ancient environmental studies #Steppe #Biology #East Asia #Megafauna #Population #Demography #Last Glacial Maximum #China #Geography #Ecology #Pleistocene #Archaeology #Glacial period
- Global variation in copy number in the human genome
2006/11/01 by Richard Redon, Shumpei Ishikawa, Karen Fitch +48 · 8 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
2014/01/23 by Kathleen A. Williamson, Kathleen A. Williamson, Joe Rainger +25 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Closure (psychology) #Fissure #Function (biology) #Gene #Genetics #Hippo pathway signaling and YAP/TAZ #Loss function #Medicine #Phenotype
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 29 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- Gene Duplication: The Genomic Trade in Spare Parts
2004/07/07 by Matthew E. Hurles · 6 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #CRISPR and Genetic Engineering
- Cerebral organoids model human brain development and microcephaly
2013/08/27 by Madeline A. Lancaster, Magdalena Renner, Carol-Anne Martin +9 · 3 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Biology #Cell biology #Cerebral cortex #Corticogenesis #Embryonic stem cell #Epigenetics and DNA Methylation #Gene #Genetics #Human brain #Induced pluripotent stem cell #Microcephaly #Neural stem cell #Neurogenesis and neuroplasticity mechanisms #Neuroscience #Organoid #Pluripotent Stem Cells Research #Progenitor #Progenitor cell #Stem cell
- Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
2001/02/01 by Luba Kalaydjieva, Francesc Calafell, Mark A Jobling +12 · 3 citations
Biochemistry, Genetics and Molecular Biology · Health Professions · #Allele #Biology #Demography #Endogamy #Evolutionary biology #Forensic and Genetic Research #Founder effect #Gene #Genealogy #Genetic diversity #Genetics #Haplogroup #Haplotype #History #Lineage (genetic) #Microsatellite #Mitochondrial DNA #Population #Romani and Gypsy Studies #Sociology #Y chromosome
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
2013/10/12 by Jennie E. Murray, Jennie Murray, Louise S. Bicknell +30 · 3 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Medicine · #Acute Myeloid Leukemia Research #Chromosomal and Genetic Variations #DNA Repair Mechanisms
- DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research
2022/02/10 by Julia Foreman, Simon Brent, Daniel Perrett +7 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Biomedical Text Mining and Ontologies #Cancer Genomics and Diagnostics #Genomics and Rare Diseases
- Polygenic and developmental profiles of autism differ by age at diagnosis
2025/10/01 by Xinhe Zhang, Jakob Grove, Yuanjun Gu +96 · 3 voices · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Autism Spectrum Disorder Research #Child Nutrition and Feeding Issues #Genetics and Neurodevelopmental Disorders
- De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
2014/03/27 by Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković +12 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities