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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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Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders

Human molecular genetics, 2012-12, Vol.21 (26), p.5417-5428

2012

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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Human molecular genetics, 2012-12, Vol.21 (24), p.5373-5384

2012

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A novel role for doublecortin and doublecortin-like kinase in regulating growth cone microtubules

Human molecular genetics, 2012-12, Vol.21 (26), p.5511-5527

2012

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Human molecular genetics, 2012-12, Vol.21 (26), p.5484-5499

2012

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Chromosome-specific accumulation of aneuploidy in the aging mouse brain

Human molecular genetics, 2012-12, Vol.21 (24), p.5246-5253

2012

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Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Human molecular genetics, 2012-12, Vol.21 (26), p.5397-5405

2012

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Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Human molecular genetics, 2012-12, Vol.21 (24), p.5306-5317

2012

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The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ

Human molecular genetics, 2012-12, Vol.21 (26), p.5528-5538

2012

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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Human molecular genetics, 2012-12, Vol.21 (24), p.5359-5372

2012

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Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

Human molecular genetics, 2012-12, Vol.21 (24), p.5239-5245

2012

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Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

Human molecular genetics, 2012-12, Vol.21 (24), p.5318-5328

2012

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Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

Human molecular genetics, 2012-12, Vol.21 (23), p.5106-5117

2012

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Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression

Human molecular genetics, 2012-12, Vol.21 (23), p.5147-5158

2012

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Seven newly identified loci for autoimmune thyroid disease

Human molecular genetics, 2012-12, Vol.21 (23), p.5202-5208

2012

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IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Human molecular genetics, 2012-12, Vol.21 (23), p.5078-5090

2012

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Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex

Human molecular genetics, 2012-11, Vol.21 (22), p.4922-4929

2012

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Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons

Human molecular genetics, 2012-11, Vol.21 (22), p.4827-4835

2012

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ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neurons

Human molecular genetics, 2012-11, Vol.21 (22), p.4888-4903

2012

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Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Human molecular genetics, 2012-11, Vol.21 (22), p.4930-4938

2012

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Impaired proteolysis underlies autophagic dysfunction in Niemann―Pick type C disease

Human molecular genetics, 2012-11, Vol.21 (22), p.4876-4887

2012

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Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis

Human molecular genetics, 2012-11, Vol.21 (21), p.4655-4668

2012

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Epistatic dissection of laminin―receptor interactions in dystrophic zebrafish muscle

Human molecular genetics, 2012-11, Vol.21 (21), p.4718-4731

2012

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The genomic landscape of African populations in health and disease

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

A novel role for doublecortin and doublecortin-like kinase in regulating growth cone microtubules

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Chromosome-specific accumulation of aneuploidy in the aging mouse brain

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression

Seven newly identified loci for autoimmune thyroid disease

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex

Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons

ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neurons

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Impaired proteolysis underlies autophagic dysfunction in Niemann―Pick type C disease

Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis

Epistatic dissection of laminin―receptor interactions in dystrophic zebrafish muscle

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