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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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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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Evolutionary Conservation of Sequence and Expression of the bHLH Protein Atonal Suggests a Conserved Role in Neurogenesis

Human molecular genetics, 1996-09, Vol.5 (9), p.1207-1216

1996

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Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Human molecular genetics, 1994-09, Vol.3 (9), p.1543-1551

1994

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Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species : implications for the evolution of functional redundancy

Human molecular genetics, 2001-06, Vol.10 (13), p.1335-1346

2001

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Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader–Willi/Angelman syndrome region

Human molecular genetics, 2002-06, Vol.11 (13), p.1527-1538

2002

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Common exon duplication in animals and its role in alternative splicing

Human molecular genetics, 2002-06, Vol.11 (13), p.1561-1567

2002

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Histone H2A variants and the inactive X chromosome : identification of a second macroH2A variant

Human molecular genetics, 2001-05, Vol.10 (10), p.1101-1113

2001

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Understanding human disease mutations through the use of interspecific genetic variation

Human molecular genetics, 2001-10, Vol.10 (21), p.2319-2328

2001

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Origin of alternative splicing by tandem exon duplication

Human molecular genetics, 2001-11, Vol.10 (23), p.2661-2669

2001

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Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster

Human molecular genetics, 2001-02, Vol.10 (4), p.371-382

2001

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Human molecular genetics, 2001-04, Vol.10 (8), p.865-874

2001

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A Candidate Mammalian DNA Methyltransferase Related to pmt1p of Fission Yeast

Human molecular genetics, 1998-02, Vol.7 (2), p.279-284

1998

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A Complex Pattern of Evolutionary Conservation and Alternative Polyadenylation Within the Long 3′-Untranslated Region of the Methyl-CpG-Binding Protein 2 Gene (MeCP2) Suggests a Regulatory Role in Gene Expression

Human molecular genetics, 1999-07, Vol.8 (7), p.1253-1262

1999

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Molecular evolution of multiple recurrent cancers of the bladder

Human molecular genetics, 2000-12, Vol.9 (20), p.2973-2980

2000

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The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

Human molecular genetics, 2001-10, Vol.10 (21), p.2463-2468

2001

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Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

Human molecular genetics, 1997-11, Vol.6 (12), p.2091-2097

1997

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CAG repeat instability at SCA2 locus : anchoring CAA interruptions and linked single nucleotide polymorphisms

Human molecular genetics, 2001-10, Vol.10 (21), p.2437-2446

2001

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Doublecortin mutations cluster in evolutionarily conserved functional domains

Human molecular genetics, 2000-03, Vol.9 (5), p.703-712

2000

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Classification of common conserved sequences in mammalian intergenic regions

Human molecular genetics, 2002-03, Vol.11 (6), p.669-674

2002

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An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene

Human molecular genetics, 2000-09, Vol.9 (14), p.2117-2124

2000

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Large-scale evaluation of imprinting status in the Prader-Willi syndrome region : an imprinted direct repeat cluster resembling small nucleolar RNA genes

Human molecular genetics, 2001-02, Vol.10 (4), p.383-394

2001

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An evolutionarily conserved putative insulator element near the 3′ boundary of the imprinted Igf2/H19 domain

Human molecular genetics, 2002-07, Vol.11 (14), p.1627-1636

2002

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Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1

Human molecular genetics, 1997-05, Vol.6 (5), p.727-737

1997

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The genomic landscape of African populations in health and disease

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

Evolutionary Conservation of Sequence and Expression of the bHLH Protein Atonal Suggests a Conserved Role in Neurogenesis

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species : implications for the evolution of functional redundancy

Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader–Willi/Angelman syndrome region

Common exon duplication in animals and its role in alternative splicing

Histone H2A variants and the inactive X chromosome : identification of a second macroH2A variant

Understanding human disease mutations through the use of interspecific genetic variation

Origin of alternative splicing by tandem exon duplication

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

A Candidate Mammalian DNA Methyltransferase Related to pmt1p of Fission Yeast

A Complex Pattern of Evolutionary Conservation and Alternative Polyadenylation Within the Long 3′-Untranslated Region of the Methyl-CpG-Binding Protein 2 Gene (MeCP2) Suggests a Regulatory Role in Gene Expression

Molecular evolution of multiple recurrent cancers of the bladder

The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

CAG repeat instability at SCA2 locus : anchoring CAA interruptions and linked single nucleotide polymorphisms

Doublecortin mutations cluster in evolutionarily conserved functional domains

Classification of common conserved sequences in mammalian intergenic regions

An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene

Large-scale evaluation of imprinting status in the Prader-Willi syndrome region : an imprinted direct repeat cluster resembling small nucleolar RNA genes

An evolutionarily conserved putative insulator element near the 3′ boundary of the imprinted Igf2/H19 domain

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1

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