List of works - Alessandro Achilli

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

scientific article published on 28 June 2014

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

scientific article

Ancient genomes reveal tropical bovid species in the Tibetan Plateau contributed to the prevalence of hunting game until the late Neolithic

scientific article published on 19 October 2020

Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern Iranians

scientific article published in 2012

Archaeogenomic distinctiveness of the Isthmo-Colombian area

scientific article published on 23 March 2021

Arrival of Paleo-Indians to the southern cone of South America: new clues from mitogenomes

scientific article

Bulgarians vs the other European populations: a mitochondrial DNA perspective

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Colony density influences invasive and filamentous growth in Saccharomyces cerevisiae

scientific article published in January 2007

Complete vertebrate mitogenomes reveal widespread repeats and gene duplications

scientific article published on 29 April 2021

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

scientific article published on 14 December 2012

Decrypting the mitochondrial gene pool of modern Panamanians

scientific article (publication date: 2012)

Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups

scientific article

Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease

scientific article

Exploring the Y Chromosomal Ancestry of Modern Panamanians

scientific article (publication date: 4 December 2015)

First genetic insight into Libyan Tuaregs: a maternal perspective

scientific article

Genealogical relationships between early medieval and modern inhabitants of Piedmont

scientific article

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

scientific article published on 19 March 2012

Genomic analyses reveal distinct genetic architectures and selective pressures in buffaloes

scientific article published on 01 February 2020

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

scientific article

Harvesting the fruit of the human mtDNA tree

scientific article (publication date: June 2006)

High rate of starvation-associated mutagenesis in Ung(-) yeast caused by the overproduction of human activation-induced deaminase

scientific article published on 13 October 2007

Human mtDNA site-specific variability values can act as haplogroup markers

Human settlement history between Sunda and Sahul: a focus on East Timor (Timor-Leste) and the Pleistocenic mtDNA diversity

scientific article

Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing

scientific article

Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies

scientific article published in July 2005

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

scientific article published on 19 September 2008

Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole

scientific article published in 2011

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

scientific article

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

scientific article

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia

scientific article

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans

scientific article

Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

scientific article

Mitochondrial genomes from modern and ancient Turano-Mongolian cattle reveal an ancient diversity of taurine maternal lineages in East Asia

scientific article published on 29 March 2021

Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication

scientific article (publication date: 14 February 2012)

Mitochondrial genomes of extinct aurochs survive in domestic cattle

Mitochondrial haplogroup C4c: a rare lineage entering America through the ice-free corridor?

scientific article

Mitochondrial haplogroup H1 in north Africa: an early holocene arrival from Iberia

scientific article

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

scientific article

Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe

scientific article

Monitoring DNA contamination in handled vs. directly excavated ancient human skeletal remains

scientific article (publication date: 2013)

Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T.

scientific article

Origin and diffusion of mtDNA haplogroup X

scientific article

Origin and spread of Bos taurus: new clues from mitochondrial genomes belonging to haplogroup T1

scientific article (publication date: 2012)

Origin and spread of human mitochondrial DNA haplogroup U7.

scientific article published on 07 April 2017

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

scientific article published on 14 February 2018

Phylogenetic relationships of three Italian merino-derived sheep breeds evaluated through a complete mitogenome analysis

scientific article

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe

scientific article

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

scientific article published on 04 September 2019

Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes

scientific article published on 14 February 2012

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

scientific article published on 23 January 2008

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

Reconciling migration models to the Americas with the variation of North American native mitogenomes

scientific article published on 12 August 2013

Reconstructing ancient mitochondrial DNA links between Africa and Europe

scientific article

Saami and Berbers--an unexpected mitochondrial DNA link

scientific article

Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes

scientific article

Small effective population size and genetic homogeneity in the Val Borbera isolate.

scientific article

Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification.

scientific article

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

scientific article published on July 2006

The Genomic Impact of European Colonization of the Americas

scientific article published on 14 November 2019

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

scientific article published on 01 June 2022

The Mountain Meadows Massacre and "poisoned springs": scientific testing of the more recent, anthrax theory

scientific article (publication date: 2013)

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

scientific article published in November 2004

The Worldwide Spread of the Tiger Mosquito as Revealed by Mitogenome Haplogroup Diversity

scientific article (publication date: 2016)

The archaeogenetics of Europe

scientific article

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

scientific article

The characterization of goat genetic diversity: Towards a genomic approach

The complex and diversified mitochondrial gene pool of Berber populations

scientific article

The enigmatic origin of bovine mtDNA haplogroup R: sporadic interbreeding or an independent event of Bos primigenius domestication in Italy?

scientific article (publication date: 28 December 2010)

The exceptionally high rate of spontaneous mutations in the polymerase delta proofreading exonuclease-deficient Saccharomyces cerevisiae strain starved for adenine

scientific article

The first peopling of South America: new evidence from Y-chromosome haplogroup Q.

scientific article

The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia

scientific article

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

scientific article

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

scientific article

The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

scientific article

The multifaceted origin of taurine cattle reflected by the mitochondrial genome

scientific article (publication date: June 2009)

The mystery of Etruscan origins: novel clues from Bos taurus mitochondrial DNA

scientific article

The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups

scientific article

The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies

scientific article

Tracing the biological origin of animal glues used in paintings through mitochondrial DNA analysis

scientific article published on 16 October 2010

Uncovering the sources of DNA found on the Turin Shroud

scientific article

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

scientific article published in 2013

Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations

scientific article published on 19 May 2006

Whole Mitogenomes Reveal the History of Swamp Buffalo: Initially Shaped by Glacial Periods and Eventually Modelled by Domestication

scientific article

Whole mitochondrial genomes unveil the impact of domestication on goat matrilineal variability

scientific article

List of works by Alessandro Achilli

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Ancient genomes reveal tropical bovid species in the Tibetan Plateau contributed to the prevalence of hunting game until the late Neolithic

Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern Iranians

Archaeogenomic distinctiveness of the Isthmo-Colombian area

Arrival of Paleo-Indians to the southern cone of South America: new clues from mitogenomes

Bulgarians vs the other European populations: a mitochondrial DNA perspective

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Colony density influences invasive and filamentous growth in Saccharomyces cerevisiae

Complete vertebrate mitogenomes reveal widespread repeats and gene duplications

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

Decrypting the mitochondrial gene pool of modern Panamanians

Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups

Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease

Exploring the Y Chromosomal Ancestry of Modern Panamanians

First genetic insight into Libyan Tuaregs: a maternal perspective

Genealogical relationships between early medieval and modern inhabitants of Piedmont

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

Genomic analyses reveal distinct genetic architectures and selective pressures in buffaloes

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Harvesting the fruit of the human mtDNA tree

High rate of starvation-associated mutagenesis in Ung(-) yeast caused by the overproduction of human activation-induced deaminase

Human mtDNA site-specific variability values can act as haplogroup markers

Human settlement history between Sunda and Sahul: a focus on East Timor (Timor-Leste) and the Pleistocenic mtDNA diversity

Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing

Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans

Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

Mitochondrial genomes from modern and ancient Turano-Mongolian cattle reveal an ancient diversity of taurine maternal lineages in East Asia

Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication

Mitochondrial genomes of extinct aurochs survive in domestic cattle

Mitochondrial haplogroup C4c: a rare lineage entering America through the ice-free corridor?

Mitochondrial haplogroup H1 in north Africa: an early holocene arrival from Iberia

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

Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe

Monitoring DNA contamination in handled vs. directly excavated ancient human skeletal remains

Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T.

Origin and diffusion of mtDNA haplogroup X

Origin and spread of Bos taurus: new clues from mitochondrial genomes belonging to haplogroup T1

Origin and spread of human mitochondrial DNA haplogroup U7.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

Phylogenetic relationships of three Italian merino-derived sheep breeds evaluated through a complete mitogenome analysis

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Reconciling migration models to the Americas with the variation of North American native mitogenomes

Reconstructing ancient mitochondrial DNA links between Africa and Europe

Saami and Berbers--an unexpected mitochondrial DNA link

Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes

Small effective population size and genetic homogeneity in the Val Borbera isolate.

Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification.

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

The Genomic Impact of European Colonization of the Americas

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

The Mountain Meadows Massacre and "poisoned springs": scientific testing of the more recent, anthrax theory

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

The Worldwide Spread of the Tiger Mosquito as Revealed by Mitogenome Haplogroup Diversity

The archaeogenetics of Europe

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

The characterization of goat genetic diversity: Towards a genomic approach

The complex and diversified mitochondrial gene pool of Berber populations

The enigmatic origin of bovine mtDNA haplogroup R: sporadic interbreeding or an independent event of Bos primigenius domestication in Italy?

The exceptionally high rate of spontaneous mutations in the polymerase delta proofreading exonuclease-deficient Saccharomyces cerevisiae strain starved for adenine

The first peopling of South America: new evidence from Y-chromosome haplogroup Q.

The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia

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

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

The multifaceted origin of taurine cattle reflected by the mitochondrial genome

The mystery of Etruscan origins: novel clues from Bos taurus mitochondrial DNA

The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups