Lista de obras - Doron M. Behar - Dominio Público Uruguay

A "Copernican" reassessment of the human mitochondrial DNA tree from its root

artículo científico publicado en 2012

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

scientific article published on December 2008

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

artículo científico publicado en 2015

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from Its Root.

artículo científico publicado en 2012

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

artículo científico publicado en 2007

Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population

artículo científico publicado en 2011

Absence of HIV-associated nephropathy in Ethiopians

artículo científico publicado en 2006

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans

artículo científico publicado en 2010

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J

artículo científico publicado en 2008

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

artículo científico publicado en 2013

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

artículo científico publicado en 2016

Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.

artículo científico publicado en 2017

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

artículo científico publicado en 2004

Correction: The Genographic Project Public Participation Mitochondrial DNA Database.

artículo científico publicado en 2007

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

artículo científico publicado en 2008

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

artículo científico publicado en 2006

Diagnosis and treatment of urinary tract complications in Crohn's disease: an experience over 15 years

artículo científico publicado en 2002

Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus

artículo científico publicado en 2012

Divorcing the Late Upper Palaeolithic demographic histories of mtDNA haplogroups M1 and U6 in Africa

artículo científico publicado en 2012

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

artículo científico publicado en 2016

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

artículo científico publicado en 2016

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

artículo científico publicado en 2014

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood ⬇️

artículo científico publicado en 2009

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews

artículo científico publicado en 2008

Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes

artículo científico publicado en 2012

Genomic analyses inform on migration events during the peopling of Eurasia

artículo científico publicado en 2016

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

artículo científico publicado en 2005

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

artículo científico publicado en 2015

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families

artículo científico publicado en 2016

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

artículo científico publicado en 2013

Insights into the demographic history of African Pygmies from complete mitochondrial genomes

artículo científico publicado en 2010

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

artículo científico publicado en 2016

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

artículo científico publicado en 2010

Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians

artículo científico publicado en 2009

Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign

artículo científico publicado en 2002

Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

artículo científico publicado en 2005

Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

artículo científico publicado en 2004

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population

artículo científico publicado en 2004

Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries

artículo científico publicado en 2003

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

artículo científico publicado en 2004

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

artículo científico publicado en 2015

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

artículo científico publicado en 2017

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

artículo científico publicado en 2013

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews

artículo científico publicado en 2013

North Africans traveling north ⬇️

artículo científico publicado el 3 de julio de 2013

Origin and spread of human mitochondrial DNA haplogroup U7.

artículo científico publicado en 2017

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

artículo científico publicado en 2013

Population expansion in the North African late Pleistocene signalled by mitochondrial DNA haplogroup U6

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Response

Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture

artículo científico publicado en 2010

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

artículo científico publicado en 2020

The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times

artículo científico publicado en 2012

The Caucasus as an asymmetric semipermeable barrier to ancient human migrations

artículo científico publicado en 2012

The Druze: a population genetic refugium of the Near East

artículo científico publicado en 2008

The Genographic Project public participation mitochondrial DNA database

artículo científico publicado en 2007

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

artículo científico publicado en 2016

The dawn of human matrilineal diversity

artículo científico publicado en 2008

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

artículo científico publicado en 2008

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

artículo científico publicado en 2017

The genome-wide structure of the Jewish people

artículo científico publicado en 2010

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry

artículo científico publicado en 2013

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

artículo científico publicado en 2006

The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

artículo científico publicado en 2006

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

artículo científico publicado en 2014

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus ⬇️

artículo científico publicado el 3 de mayo de 2011

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

artículo científico publicado en 2017

Uniparental genetic heritage of belarusians: encounter of rare middle eastern matrilineages with a central European mitochondrial DNA pool

artículo científico publicado en 2013

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

artículo científico publicado en 2004

Lista de obras de Doron M. Behar

A "Copernican" reassessment of the human mitochondrial DNA tree from its root

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

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

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from Its Root.

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population

Absence of HIV-associated nephropathy in Ethiopians

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

Correction: The Genographic Project Public Participation Mitochondrial DNA Database.

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

Diagnosis and treatment of urinary tract complications in Crohn's disease: an experience over 15 years

Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus

Divorcing the Late Upper Palaeolithic demographic histories of mtDNA haplogroups M1 and U6 in Africa

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood ⬇️

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews

Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes

Genomic analyses inform on migration events during the peopling of Eurasia

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Insights into the demographic history of African Pygmies from complete mitochondrial genomes

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

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

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians

Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign

Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population

Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews

North Africans traveling north ⬇️

Origin and spread of human mitochondrial DNA haplogroup U7.

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

Population expansion in the North African late Pleistocene signalled by mitochondrial DNA haplogroup U6

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

Response

Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times

The Caucasus as an asymmetric semipermeable barrier to ancient human migrations

The Druze: a population genetic refugium of the Near East

The Genographic Project public participation mitochondrial DNA database

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

The dawn of human matrilineal diversity

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

The genome-wide structure of the Jewish people

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus ⬇️

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

Uniparental genetic heritage of belarusians: encounter of rare middle eastern matrilineages with a central European mitochondrial DNA pool

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