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Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

Human molecular genetics, 2003-09, Vol.12 (17), p.2201-2208

2003

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African genetic diversity provides novel insights into evolutionary history and local adaptations

Human molecular genetics, 2018-08, Vol.27 (R2), p.R209-R218

2018

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Human BOULE gene rescues meiotic defects in infertile flies

Human molecular genetics, 2003-01, Vol.12 (2), p.169-175

2003

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The genomic landscape of African populations in health and disease

Human molecular genetics, 2017-10, Vol.26 (R2), p.R225-R236

2017

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Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability

Human molecular genetics, 2017-09, Vol.26 (18), p.3508-3519

2017

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Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of γ-secretase activity

Human molecular genetics, 2015-07, Vol.24 (13), p.3662-3678

2015

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The Mouse Mid1 Gene: Implications for the Pathogenesis of Opitz Syndrome and the Evolution of the Mammalian Pseudoautosomal Region

Human molecular genetics, 1998-03, Vol.7 (3), p.489-499

1998

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Evolution of the DAZ Gene Family Suggests that Y-Linked DAZ Plays Little, or a Limited, Role in Spermatogenesis but underlines a Recent African Origin for Human Populations

Human molecular genetics, 1998-09, Vol.7 (9), p.1371-1377

1998

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The Origin and Loss of the Ubiquitin Activating Enzyme Gene on the Mammalian Y Chromosome

Human molecular genetics, 1998-03, Vol.7 (3), p.429-434

1998

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Evolutionary conservation of possible functional domains of the human and murine XIST genes

Human molecular genetics, 1993-06, Vol.2 (6), p.663-672

1993

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Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3

Human molecular genetics, 1993-09, Vol.2 (9), p.1413-1421

1993

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SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

Human molecular genetics, 2001-07, Vol.10 (14), p.1441-1448

2001

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Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

Human molecular genetics, 2002-02, Vol.11 (4), p.397-409

2002

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Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

Human molecular genetics, 1994-09, Vol.3 (9), p.1647-1656

1994

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Genetic Control of the Circulating Concentration of Transforming Growth Factor Type β1

Human molecular genetics, 1999-01, Vol.8 (1), p.93-97

1999

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Genomic microarrays in human genetic disease and cancer

Human molecular genetics, 2003-10, Vol.12 (suppl-2), p.R145-R152

2003

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Sequences from Higher Primates Orthologous to the Human Xp/Yp Telomere Junction Region Reveal Gross Rearrangements and High Levels of Divergence

Human molecular genetics, 1997-12, Vol.6 (13), p.2291-2299

1997

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Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity

Human molecular genetics, 1997-07, Vol.6 (7), p.991-1002

1997

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Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

Human molecular genetics, 2003-12, Vol.12 (24), p.3359-3367

2003

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Autophagy regulates the processing of amino terminal huntingtin fragments

Human molecular genetics, 2003-12, Vol.12 (24), p.3231-3244

2003

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Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

Human molecular genetics, 2003-12, Vol.12 (24), p.3385-3395

2003

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Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

Human molecular genetics, 2003-12, Vol.12 (24), p.3397-3405

2003

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Phosphorylation influences the translation state of FMRP-associated polyribosomes

Human molecular genetics, 2003-12, Vol.12 (24), p.3295-3305

2003

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Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas

Human molecular genetics, 2012-04, Vol.21 (8), p.1907-1917

2012

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Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

African genetic diversity provides novel insights into evolutionary history and local adaptations

Human BOULE gene rescues meiotic defects in infertile flies

The genomic landscape of African populations in health and disease

Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability

Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of γ-secretase activity

The Mouse Mid1 Gene: Implications for the Pathogenesis of Opitz Syndrome and the Evolution of the Mammalian Pseudoautosomal Region

Evolution of the DAZ Gene Family Suggests that Y-Linked DAZ Plays Little, or a Limited, Role in Spermatogenesis but underlines a Recent African Origin for Human Populations

The Origin and Loss of the Ubiquitin Activating Enzyme Gene on the Mammalian Y Chromosome

Evolutionary conservation of possible functional domains of the human and murine XIST genes

Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

Genetic Control of the Circulating Concentration of Transforming Growth Factor Type β1

Genomic microarrays in human genetic disease and cancer

Sequences from Higher Primates Orthologous to the Human Xp/Yp Telomere Junction Region Reveal Gross Rearrangements and High Levels of Divergence

Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity

BACE knockout mice are healthy despite lacking the primary β-secretase activity in brain: implications for Alzheimer's disease therapeutics

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

Autophagy regulates the processing of amino terminal huntingtin fragments

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

Phosphorylation influences the translation state of FMRP-associated polyribosomes

Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas

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