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A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy

Clinical genetics, 2017-11, Vol.92 (5), p.510-516

2017

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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

Journal of medical genetics, 2008-08, Vol.45 (8), p.500-506

2008

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Journal of medical genetics, 2012-02, Vol.49 (2), p.104-109

2012

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Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations

Annals of human genetics, 2009-03, Vol.73 (2), p.215-224

2009

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Clinical genetics, 2009-12, Vol.76 (6), p.524-534

2009

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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Human molecular genetics, 2014-08, Vol.23 (16), p.4315-4327

2014

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Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

Cytogenetic and genome research, 2007-01, Vol.118 (1), p.1-7

2007

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A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

The journal of clinical endocrinology and metabolism, 2004-01, Vol.89 (1), p.227-231

2004

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.333-341

2024

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Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Human molecular genetics, 1995-04, Vol.4 (4), p.615-621

1995

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Molecular and phenotypic variation in patients with severe Hunter syndrome

Human molecular genetics, 1997-03, Vol.6 (3), p.479-486

1997

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Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

Human mutation, 2000-01, Vol.15 (4), p.324-331

2000

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Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome

Human molecular genetics, 1997-04, Vol.6 (4), p.627-633

1997

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Molecular psychiatry, 2016-01, Vol.21 (1), p.133-148

2016

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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

BMC medical genetics, 2020-05, Vol.21 (1), p.90-90, Article 90

2020

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Two distinct deletions in the IDS gene and the gene W : A novel type of mutation associated with the Hunter syndrome

Genomics (San Diego, Calif.), 1997-07, Vol.43 (2), p.123-129

1997

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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1676-1687

2022

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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer

Journal of medical genetics, 2024-02, Vol.61 (2), p.150-154

2024

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Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

Human molecular genetics, 1992-06, Vol.1 (3), p.195-198

1992

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Linkage mapping of a severe X-linked mental retardation syndrome

American journal of human genetics, 1993-06, Vol.52 (6), p.1046-1052

1993

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Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

BMC medical genetics, 2015-10, Vol.16 (1), p.95-95, Article 95

2015

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Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

European journal of human genetics : EJHG, 1995, Vol.3 (4), p.219-227

1995

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A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Prenatal diagnosis, 2017-11, Vol.37 (11), p.1146-1154

2017

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Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene

Genomics (San Diego, Calif.), 1995-09, Vol.29 (1), p.291-293

1995

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Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy

Ophthalmic genetics, 2011-11, Vol.32 (4), p.217-227

2011

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A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Molecular and phenotypic variation in patients with severe Hunter syndrome

Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Two distinct deletions in the IDS gene and the gene W : A novel type of mutation associated with the Hunter syndrome

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

Linkage mapping of a severe X-linked mental retardation syndrome

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene

Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy

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