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EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

Andrology (Oxford), 2014-01, Vol.2 (1), p.5-19

2014

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Journal of Medical Genetics, 2011-05, Vol.48 (5), p.334-342

2011

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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

Clinical genetics, 2011-01, Vol.79 (1), p.49-59

2011

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Journal of medical genetics, 2006-04, Vol.43 (4), p.306-314

2006

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Clinical genetics, 2009-01, Vol.75 (1), p.65-71

2009

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Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Clinical and experimental immunology, 2008-07, Vol.153 (1), p.75-80

2008

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Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-11, Vol.163C (4), p.259-270

2013

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Genotype phenotype correlations for hearing impairment: Approaches to management

Clinical genetics, 2014-06, Vol.85 (6), p.514-523

2014

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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.437-445

2016

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Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis

Brain (London, England : 1878), 2000-05, Vol.123 (5), p.908-919

2000

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A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

Clinical genetics, 2010-09, Vol.78 (3), p.267-274

2010

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Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype

Haemophilia : the official journal of the World Federation of Hemophilia, 2015-09, Vol.21 (5), p.e375-e383

2015

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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

Clinical genetics, 2013-09, Vol.84 (3), p.290-293

2013

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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Molecular syndromology, 2013-06, Vol.4 (5), p.235-245

2013

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Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

Hearing research, 2012-09, Vol.291 (1-2), p.15-23

2012

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Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome

Audiology & neurotology, 2014-01, Vol.19 (2), p.106-114

2014

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PTEN mutation in a family with Cowden syndrome and autism

American journal of medical genetics, 2001-08, Vol.105 (6), p.521-524

2001

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545 – Paranoid schizophrenia in kallmann syndrome: genetics and psychopathology

European psychiatry, 2013, Vol.28, p.1-1

2013

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Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation

Molecular and Cellular Biology, 1993-12, Vol.13 (12), p.7774-7781

1993

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Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Hearing research, 2011-12, Vol.282 (1), p.243-251

2011

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Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic

Human reproduction (Oxford), 1997-04, Vol.12 (4), p.687-691

1997

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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

Human genetics, 2003-08, Vol.113 (3), p.268-275

2003

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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

European journal of human genetics : EJHG, 1999-04, Vol.7 (3), p.267-273

1999

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Identification of a Nonsense Mutation in the Granulocyte-Colony-Stimulating Factor Receptor in Severe Congenital Neutropenia

Proceedings of the National Academy of Sciences - PNAS, 1994-05, Vol.91 (10), p.4480-4484

1994

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Teunissen-Cremers syndrome: a clinical, surgical, and genetic report

Otology & neurotology, 2005-01, Vol.26 (1), p.38-51

2005

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EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Genotype phenotype correlations for hearing impairment: Approaches to management

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome

PTEN mutation in a family with Cowden syndrome and autism

545 – Paranoid schizophrenia in kallmann syndrome: genetics and psychopathology

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

Identification of a Nonsense Mutation in the Granulocyte-Colony-Stimulating Factor Receptor in Severe Congenital Neutropenia

Teunissen-Cremers syndrome: a clinical, surgical, and genetic report

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