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The prevalence of CYP2D6 and CYP2C19 genotypes in a population of healthy Dutch volunteers

European journal of clinical pharmacology, 2001-12, Vol.57 (10), p.717-722

2001

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Journal of human genetics, 2012-10, Vol.57 (10), p.621-632

2012

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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Journal of human genetics, 2016-05, Vol.61 (5), p.447-450

2016

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Mutation spectrum of the dystrophin gene in 442 Duchenne Becker muscular dystrophy cases from one Japanese referral center

Journal of human genetics, 2010-06, Vol.55 (6), p.379-388

2010

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The pursuit of genome-wide association studies: where are we now?

Journal of human genetics, 2010-04, Vol.55 (4), p.195-206

2010

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A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

Journal of human genetics, 2010-10, Vol.55 (10), p.662-667

2010

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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Journal of human genetics, 2012-05, Vol.57 (5), p.338-341

2012

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New native South American Y chromosome lineages

Journal of human genetics, 2016-07, Vol.61 (7), p.593-603

2016

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Mutations in mitochondrial DNA polymerase-γ promote breast tumorigenesis

Journal of human genetics, 2009-09, Vol.54 (9), p.516-524

2009

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KEAP1 gene mutations and NRF2 activation are common in pulmonary papillary adenocarcinoma

Journal of human genetics, 2011-03, Vol.56 (3), p.230-234

2011

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Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Journal of human genetics, 2011-08, Vol.56 (8), p.561-565

2011

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Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

Journal of human genetics, 2012-07, Vol.57 (7), p.453-458

2012

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Danon disease: focusing on heart

Journal of human genetics, 2012-07, Vol.57 (7), p.407-410

2012

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Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation

Journal of human genetics, 2009-05, Vol.54 (5), p.277-283

2009

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Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan

Journal of human genetics, 2011-05, Vol.56 (5), p.364-368

2011

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Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Journal of human genetics, 2010-10, Vol.55 (10), p.639-648

2010

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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

Journal of human genetics, 2010-09, Vol.55 (9), p.621-626

2010

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Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

Journal of human genetics, 2012-04, Vol.57 (4), p.238-243

2012

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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Journal of human genetics, 2012-03, Vol.57 (3), p.207-211

2012

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Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

Journal of human genetics, 2012-07, Vol.57 (7), p.459-464

2012

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Protein tyrosine phosphatase receptor-like genes are frequently hypermethylated in sporadic colorectal cancer

Journal of human genetics, 2013-01, Vol.58 (1), p.11-15

2013

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The heritability of risk and age at onset of Parkinson's disease after accounting for known genetic risk factors

Journal of human genetics, 2010-04, Vol.55 (4), p.241-243

2010

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SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Journal of human genetics, 2009-05, Vol.54 (5), p.266-270

2009

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Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding

Journal of human genetics, 2013-01, Vol.58 (1), p.7-10

2013

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Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

Journal of human genetics, 2011-02, Vol.56 (2), p.166-168

2011

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The prevalence of CYP2D6 and CYP2C19 genotypes in a population of healthy Dutch volunteers

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Mutation spectrum of the dystrophin gene in 442 Duchenne Becker muscular dystrophy cases from one Japanese referral center

The pursuit of genome-wide association studies: where are we now?

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

New native South American Y chromosome lineages

Mutations in mitochondrial DNA polymerase-γ promote breast tumorigenesis

KEAP1 gene mutations and NRF2 activation are common in pulmonary papillary adenocarcinoma

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

Danon disease: focusing on heart

Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

Protein tyrosine phosphatase receptor-like genes are frequently hypermethylated in sporadic colorectal cancer

The heritability of risk and age at onset of Parkinson's disease after accounting for known genetic risk factors

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

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