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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Journal of medical genetics, 2011-06, Vol.48 (6), p.390-395

2011

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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Human genetics, 2017-02, Vol.136 (2), p.179-192

2017

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Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

Journal of medical genetics, 2007-04, Vol.44 (4), p.e74-e74

2007

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Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits

Familial cancer, 2010-12, Vol.9 (4), p.647-654

2010

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Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome

European journal of cancer (1990), 2011-06, Vol.47 (9), p.1407-1413

2011

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819 International cohort of 19 patients with CARD14-associated papulosquamous eruption: The quest for a genotype-phenotype correlation and successful therapeutic intervention

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S141-S141

2023

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CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

Journal of medical genetics, 2018-10, Vol.55 (10), p.661-668

2018

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Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

Gastroenterology (New York, N.Y. 1943), 2018-09, Vol.155 (3), p.844-851

2018

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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

American journal of human genetics, 2007-08, Vol.81 (2), p.228-233

2007

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Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

American journal of human genetics, 2005-12, Vol.77 (6), p.1086-1091

2005

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Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

American journal of medical genetics. Part A, 2006-06, Vol.140A (12), p.1343-1345

2006

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Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?

European journal of ophthalmology, 2008-03, Vol.18 (2), p.309-312

2008

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Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy

American journal of ophthalmology, 2006-04, Vol.141 (4), p.676-676.e8

2006

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A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

American journal of medical genetics. Part A, 2004-09, Vol.129A (3), p.312-315

2004

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Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

American journal of human genetics, 2003-06, Vol.72 (6), p.1460-1469

2003

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Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON

American journal of medical genetics. Part A, 2006-07, Vol.140A (13), p.1478-1481

2006

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Npj genomic medicine, 2021-11, Vol.6 (1), p.95-95, Article 95

2021

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Founder mutations among the Dutch

European journal of human genetics : EJHG, 2004-07, Vol.12 (7), p.591-600

2004

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Hypertrophic Left Calf and Multiple Flesh-coloured Subcutaneous Tumours in a 5-year-old Girl: A Quiz

Acta dermato-venereologica, 2014, Vol.94 (5), p.619-622

2014

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Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes

Psycho-oncology (Chichester, England), 2011-06, Vol.20 (6), p.631-638

2011

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Prophylactic gastrectomy in CDH1 -mutation carriers: Psychosocial, physical, and nutritional effect compared with curative gastrectomy for gastric cancer

Journal of clinical oncology, 2011-05, Vol.29 (15_suppl), p.e14616-e14616

2011

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A patient with a de novo 11q24.2-->qter deletion

Genetic counseling, 2004, Vol.15 (1), p.1

2004

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Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate

Muscle & nerve, 2001-07, Vol.24 (7), p.916-924

2001

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An adult patient with a distal interstitial 14q deletion: clinical report and literature review

Genetic counseling, 2000, Vol.11 (4), p.335

2000

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A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)

American journal of medical genetics. Part A, 2005-11, Vol.139A (1), p.45-47

2005

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits

Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome

819 International cohort of 19 patients with CARD14-associated papulosquamous eruption: The quest for a genotype-phenotype correlation and successful therapeutic intervention

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?

Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Founder mutations among the Dutch

Hypertrophic Left Calf and Multiple Flesh-coloured Subcutaneous Tumours in a 5-year-old Girl: A Quiz

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes

Prophylactic gastrectomy in CDH1 -mutation carriers: Psychosocial, physical, and nutritional effect compared with curative gastrectomy for gastric cancer

A patient with a de novo 11q24.2-->qter deletion

Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate

An adult patient with a distal interstitial 14q deletion: clinical report and literature review

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)

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