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List of works by Chris Tyler-Smith

"Like sugar in milk": reconstructing the genetic history of the Parsi population

scientific article

'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care

scientific article (publication date: 2 August 2012)

A British approach to sampling

scientific article (publication date: February 2012)

A Neolithic expansion, but strong genetic structure, in the independent history of New Guinea.

scientific article

A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations

scientific article

A calibrated human Y-chromosomal phylogeny based on resequencing

scientific article published on 4 October 2012

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

scientific article

A comparison of Y-chromosomal lineage dating using either resequencing or Y-SNP plus Y-STR genotyping

scientific article published on 13 June 2013

A comprehensive survey of human Y-chromosomal microsatellites

scientific article

A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia

scientific article

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

A genome-wide survey of genetic variation in gorillas using reduced representation sequencing

scientific article

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

scientific article published on 05 February 2009

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

scientific article (publication date: September 2014)

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

scientific article published on December 2008

A predominantly neolithic origin for European paternal lineages

scientific article published in January 2010

A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa

scientific article

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

scientific article published on January 2013

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

scientific article

A shared Y-chromosomal heritage between Muslims and Hindus in India

scientific article published on 02 September 2006

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

A world in a grain of sand: human history from genetic data

scientific article

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia ⬇️

scientific article published on May 5, 2011

A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations

scientific article

Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity

scientific article published on 13 March 2017

Adaptive evolution of UGT2B17 copy-number variation

scientific article published on 28 August 2008

Afghanistan's ethnic groups share a Y-chromosomal heritage structured by historical events

scientific article published in 2012

Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy

scientific article

An Ethnolinguistic and Genetic Perspective on the Origins of the Dravidian-Speaking Brahui in Pakistan

scientific article published on January 2017

An Exceptional Gene: Evolution of the TSPY Gene Family in Humans and Other Great Apes

scientific article published on 10 January 2011

An evolutionary perspective on Y-chromosomal variation and male infertility

scientific article published on August 2008

An extended Tajima's D neutrality test incorporating SNP calling and imputation uncertainties

scientific article published on October 2015

Analysis of extrachromosomal structures containing human centromeric alphoid satellite DNA sequences in mouse cells

article

Ancient DNA and the rewriting of human history: be sparing with Occam's razor

scientific article

Ancient Indian roots?

scientific article published in March 2006

Ancient human parallel lineages within North America contributed to a coastal expansion

scientific article published in Science

Antiquity and diversity of aboriginal Australian Y-chromosomes

scientific article

Assaying chromosomal inversions by single-molecule haplotyping

scientific article published on June 2006

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

scientific article

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

scientific article

Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele Pygmies from the Central African Republic

Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele pygmies from the Central African Republic.

scientific article published on January 2004

Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations

scientific article

Chimpanzee genomic diversity reveals ancient admixture with bonobos

scientific article published on 27 October 2016

Comprehensive comparison of three commercial human whole-exome capture platforms ⬇️

scientific article published on September 28, 2011

Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing

scientific article published on December 2011

Copy number variation and evolution in humans and chimpanzees

scientific article published on 04 September 2008

Copy number variation arising from gene conversion on the human Y chromosome

scientific article published on 5 December 2017

Copy number variation in the human Y chromosome in the UK population

scientific article published on 10 May 2015

Copy number variation: new insights in genome diversity

scientific article

Correction: Population Differentiation of Southern Indian Male Lineages Correlates with Agricultural Expansions Predating the Caste System.

scientific article published on 26 July 2013

Corrigendum: Geographic population structure analysis of worldwide human populations infers their biogeographical origins

scientific article published on 31 October 2016

Deep Roots for Aboriginal Australian Y Chromosomes

scientific article

Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers

scientific article

Defining the human reference protein-coding gene set.

scientific article published on 11 October 2010

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

scientific article

Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations

scholarly article by Elena Arciero published in August 2018

Detection of novel Y SNPs provides further insights into Y chromosomal variation in Pakistan

scientific article

Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies

scientific article published on 27 April 2016

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

scientific article published on 4 April 2010

Distinct variants at LIN28B influence growth in height from birth to adulthood

scientific article

Don't mix radiocarbon and calendar years

scientific article published in April 2005

Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis

scientific article published on October 2008

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

scientific article published on 23 June 2017

Erratum to: Copy number variation in the human Y chromosome in the UK population

scientific article published in July 2015

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

scientific article published on 21 August 2017

Ethiopian genetic diversity reveals linguistic stratification and complex influences on the Ethiopian gene pool

scientific article (publication date: 13 July 2012)

Evidence for a Common Origin of Blacksmiths and Cultivators in the Ethiopian Ari within the Last 4500 Years: Lessons for Clustering-Based Inference

scientific article published on 20 August 2015

Evolutionary genetics of the human Rh blood group system

scientific article

Expansion of the HSFY gene family in pig lineages : HSFY expansion in suids

scientific article published on 9 June 2015

Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data

scientific article

FOXP2 targets show evidence of positive selection in European populations

scientific article published on 18 April 2013

FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations

scientific article published on 17 January 2018

Forensic genetic analysis of mitochondrial DNA hypervariable region I/II sequences: an expanded Korean population database

article

Gene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeats

scientific article

Gene inactivation and its implications for annotation in the era of personal genomics

scientific article (publication date: 2011)

Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians

scientific article published on 31 December 2015

Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data

scientific article

Genetic basis of Y-linked hearing impairment

scientific article

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

scientific article

Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

scientific article

Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

article

Genetic instability in EBV-transformed lymphoblastoid cell lines

scientific article published on January 2004

Genetic instability in EBV-transformed lymphoblastoid cell lines

Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations ⬇️

scientific article

Genetic variation in Northern Thailand Hill Tribes: origins and relationships with social structure and linguistic differences

scientific article

Genetic variation in South Asia: assessing the influences of geography, language and ethnicity for understanding history and disease risk

scientific article published on 17 June 2009

Genome-wide analysis of cold adaptation in indigenous Siberian populations

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide diversity in the levant reveals recent structuring by culture

scientific article

Genome-wide signatures of male-mediated migration shaping the Indian gene pool

scientific article (publication date: 21 May 2015)

Genomic analyses inform on migration events during the peopling of Eurasia

scientific article (publication date: 13 October 2016)

Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications

scientific article published on 14 June 2008

Genomic evidence for the Pleistocene and recent population history of Native Americans

scientific article

Genomic triumph meets clinical reality

scientific article (publication date: 28 May 2013)

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

scientific article

Geographical affinities of the HapMap samples

scientific article

Geographical structure of the Y-chromosomal genetic landscape of the Levant: a coastal-inland contrast

scientific article

Global diversity, population stratification, and selection of human copy-number variation

scientific article

Global variation in copy number in the human genome

scientific article

Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal

scientific article published on 16 February 2016

HI: haplotype improver using paired-end short reads

scientific article

Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry

scientific article

High altitude adaptation in Daghestani populations from the Caucasus

scientific article published on 9 September 2011

Hotspots for copy number variation in chimpanzees and humans

scholarly article

Human Genetics: Busy Subway Networks in Remote Oceania?

article

Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

scientific article

Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree

scientific article (publication date: 15 September 2009)

Human Y-chromosome variation in the genome-sequencing era.

scientific article published on 30 May 2017

Human genetics: pre-Columbian Pacific contact

scientific article published on 3 November 2014

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

scientific article

IFITM3 restricts the morbidity and mortality associated with influenza

scientific article

Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean

scientific article

Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms

scientific article published on 23 February 2009

Indian Siddis: African descendants with Indian admixture

scientific article

Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon

scientific article

Insights into hominid evolution from the gorilla genome sequence

scientific article

Insights into human genetic variation and population history from 929 diverse genomes

scientific article published on 01 March 2020

Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article

Iron Age and Anglo-Saxon genomes from East England reveal British migration history

scientific article

Lack of association between Y-chromosomal haplogroups and prostate cancer in the Korean population

scientific article

Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping

scientific article published on 18 June 2008

Loss-of-function variants in the genomes of healthy humans

scientific article

Male demography in East Asia: a north-south contrast in human population expansion times

scientific article

Mapping Post-Glacial expansions: The Peopling of Southwest Asia

scientific article published on 06 January 2017

Maternal footprints of Southeast Asians in North India

scientific article published on 28 January 2008

Maximum-likelihood estimation of site-specific mutation rates in human mitochondrial DNA from partial phylogenetic classification

scientific article published on 14 September 2008

Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis

article

Mitochondrial DNA diversity of present-day Aboriginal Australians and implications for human evolution in Oceania

scientific article published on December 2016

Modeling the contrasting Neolithic male lineage expansions in Europe and Africa

scientific article

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

scientific article

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

scientific article

New uses for new haplotypes

scientific article published in August 2000

Next-generation sequencing and the era of personal Y genomes.

scientific article

Origins and functional impact of copy number variation in the human genome

scientific article (publication date: April 2010)

Over-expression of wild-type Securin leads to aneuploidy in human cells

scientific article

Paleolithic networking

scientific article published in Science

Parallel evolution of genes and languages in the Caucasus region

scientific article

Past successes and future opportunities for the genetics of the human Y chromosome

scientific article published on 29 April 2017

Perspectives on Human Genome Diversity within Pakistan using Y Chromosomal and Autosomal Microsatellite Markers

scholarly article published 2002

Phylogeography and origin of Indian domestic goats

scientific article published on 5 December 2003

Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration

scientific article

PoolHap: inferring haplotype frequencies from pooled samples by next generation sequencing

scientific article

Population Differentiation of Southern Indian Male Lineages Correlates with Agricultural Expansions Predating the Caste System ⬇️

scientific article published on November 28, 2012

Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation

scientific article

Population genetic structure in Indian Austroasiatic speakers: the role of landscape barriers and sex-specific admixture

scientific article

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates

scientific article

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

scientific article

Reading the human Y chromosome: the emerging DNA markers and human genetic history

Recent spread of a Y-chromosomal lineage in northern China and Mongolia

scientific article

Relative impact of nucleotide and copy number variation on gene expression phenotypes

scientific article (publication date: 9 February 2007)

Replication of the association of a MET variant with autism in a Chinese Han population

scientific article

Reply to Rothhammer and Moraga

Response to Giem

scientific article published in February 2018

Response to Hellenthal et al.

scientific article published on February 2016

Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes

scientific article (publication date: 6 February 2014)

Sibling Rivalry among Paralogs Promotes Evolution of the Human Brain ⬇️

scientific article (publication date: 11 May 2012)

Signature of recent historical events in the European Y-chromosomal STR haplotype distribution

scientific article published on 20 January 2005

Spread of an inactive form of caspase-12 in humans is due to recent positive selection

scientific article

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

scientific article

Studying gene and gene-environment effects of uncommon and common variants on continuous traits: a marker-set approach using gene-trait similarity regression

scientific article

TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages ⬇️

scientific article published on 22 September 2009

The African Genome Variation Project shapes medical genetics in Africa

scientific article

The Connection of the Genetic, Cultural and Geographic Landscapes of Transoxiana

scientific article

The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan

scientific article published in November 2017

The GenoChip: a new tool for genetic anthropology

scientific article

The Genographic Project public participation mitochondrial DNA database

scientific article published in June 2007

The Grandest Genetic Experiment Ever Performed on Man? – A Y-Chromosomal Perspective on Genetic Variation in India ⬇️

scientific article published on May 1, 2008

The Kalash genetic isolate: ancient divergence, drift, and selection

scientific article

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

scientific article

The comings and goings of a Y polymorphism ⬇️

scientific article published on 01 November 2003

The dawn of human matrilineal diversity

scientific article

The functional impact of structural variation in humans

scientific article

The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

The genetic legacy of the Mongols

scientific article

The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind

scientific article published on 02 September 2009

The human Y chromosome: an evolutionary marker comes of age

scientific article (publication date: August 2003)

The peopling of Korea revealed by analyses of mitochondrial DNA and Y-chromosomal markers

scientific article published in 2009

The population history of the Xibe in northern China: a comparison of autosomal, mtDNA and Y-chromosomal analyses of migration and gene flow

scientific article published on 27 February 2007

The promise and reality of personal genomics

scientific article published on 02 September 2009

The rise and fall of the ape Y chromosome?

scientific article published in February 2006

The sequences of the human sex chromosomes

scientific article

The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene

scientific article

Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations

scientific article

Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians

scientific article

Using ancestry-informative markers to identify fine structure across 15 populations of European origin

scientific article

Variation of 52 new Y-STR loci in the Y Chromosome Consortium worldwide panel of 76 diverse individuals

scientific article published on 21 October 2006

Variation of the oxytocin/neurophysin I (OXT) gene in four human populations

scientific article published on 20 June 2008

Where Next for Genetics and Genomics?

scientific article

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

scientific article published on 03 July 2013

Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor

scientific article

Wide distribution and altitude correlation of an archaic high-altitude-adaptive EPAS1 haplotype in the Himalayas

scientific article published on 16 February 2016

Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans ⬇️

scientific article (publication date: December 2003)

Y-chromosomal DNA variation in Pakistan

scientific article

Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia

scientific article published on 27 April 2005

Y-chromosomal diversity in Lebanon is structured by recent historical events

scientific article

Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan

scientific article

Y-chromosomal insights into the genetic impact of the caste system in India

scientific article

Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese

scientific article published on 25 April 2017

Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon

scientific article published on 28 October 2010

Y-chromosome and mtDNA genetics reveal significant contrasts in affinities of modern Middle Eastern populations with European and African populations

scientific article published in 2013

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