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'Progress' renders detrimental an ancient mitochondrial DNA genetic variant

Human molecular genetics, 2011-11, Vol.20 (21), p.4224-4231

2011

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Amino-acid changes acquired during evolution by olfactory receptor 912-93 modify the specificity of odorant recognition

Human molecular genetics, 2004-04, Vol.13 (7), p.771-780

2004

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PAX6 in sensory development

Human molecular genetics, 2002-05, Vol.11 (10), p.1161-1167

2002

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Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary

Human molecular genetics, 2001-08, Vol.10 (17), p.1721-1728

2001

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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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PINK1 cleavage at position A103 by the mitochondrial protease PARL

Human molecular genetics, 2011-03, Vol.20 (5), p.867-879

2011

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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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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Human molecular genetics, 2012-05, Vol.21 (10), p.2205-2210

2012

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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline

Human molecular genetics, 2011-05, Vol.20 (10), p.1916-1924

2011

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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Human molecular genetics, 2012-10, Vol.21 (19), p.4151-4161

2012

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Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome

Human molecular genetics, 2011-10, Vol.20 (20), p.4025-4040

2011

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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Human molecular genetics, 2012-06, Vol.21 (12), p.2646-2650

2012

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Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA

Human molecular genetics, 2007-05, Vol.16 (9), p.1124-1131

2007

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

Human molecular genetics, 2006-07, Vol.15 (13), p.2076-2086

2006

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Human molecular genetics, 2012-08, Vol.21 (16), p.3647-3654

2012

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The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence

Human molecular genetics, 2003-07, Vol.12 (14), p.1643-1650

2003

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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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Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

Human molecular genetics, 2009-10, Vol.18 (R2), p.R156-R162

2009

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Human molecular genetics, 2012-10, Vol.21 (20), p.4521-4529

2012

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Transcriptome analysis and molecular signature of human retinal pigment epithelium

Human molecular genetics, 2010-06, Vol.19 (12), p.2468-2486

2010

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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Human molecular genetics, 2011-06, Vol.20 (12), p.2297-2307

2011

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Human DJ-1 and its homologs are novel glyoxalases

Human molecular genetics, 2012-07, Vol.21 (14), p.3215-3225

2012

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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

Human molecular genetics, 2009-09, Vol.18 (17), p.3257-3265

2009

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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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Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

Human molecular genetics, 2008-12, Vol.17 (23), p.3631-3642

2008

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'Progress' renders detrimental an ancient mitochondrial DNA genetic variant

Amino-acid changes acquired during evolution by olfactory receptor 912-93 modify the specificity of odorant recognition

PAX6 in sensory development

Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary

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

PINK1 cleavage at position A103 by the mitochondrial protease PARL

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

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA

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

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence

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

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Transcriptome analysis and molecular signature of human retinal pigment epithelium

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Human DJ-1 and its homologs are novel glyoxalases

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

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

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

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