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Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Biochimica et biophysica acta, 2014-01, Vol.1842 (1), p.56-64

2014

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Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics

Stem cell reports, 2019-01, Vol.12 (1), p.165-179

2019

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Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

Nature genetics, 2014-05, Vol.46 (5), p.487-491

2014

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The contribution of X-linked coding variation to severe developmental disorders

Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627

2021

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High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

Journal of medical genetics, 2009-08, Vol.46 (8), p.531-541

2009

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Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy

Clinical genetics, 2020-08, Vol.98 (2), p.147-154

2020

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The spectrum of 4q- syndrome illustrated by a case series

Gene, 2012-09, Vol.506 (2), p.387-391

2012

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Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

Annals of neurology, 2018-08, Vol.84 (2), p.200-207

2018

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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1931-1935

2017

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079

2019

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2019-02, Vol.10 (1), p.883-4, Article 883

2019

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Mosaic Deletion of the NF 1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

American journal of medical genetics. Part A, 2013-05, Vol.161 (5), p.1185-1188

2013

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A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

European journal of medical genetics, 2013-03, Vol.56 (3), p.163-170

2013

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Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1185-1188

2013

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Significant Evidence for Linkage Disequilibrium over a 5-cM Region among Afrikaners

Genomics (San Diego, Calif.), 2000-05, Vol.66 (1), p.87-92

2000

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Identification of Genetic Markers Associated with Gilles de la Tourette Syndrome in an Afrikaner Population

American journal of human genetics, 1998-09, Vol.63 (3), p.839-846

1998

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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1764-1769

2010

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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

American journal of human genetics, 2009-10, Vol.85 (4), p.537-537

2009

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Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12 qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

European journal of human genetics : EJHG, 2007-01, Vol.15 (1), p.45-52

2007

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Novel etiological hypotheses imply new analysis methods for schizophrenia genetics

Schizophrenia research, 1996-05, Vol.20 (1), p.235-237

1996

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Increased chromosomal breakage in tourette syndrome predicts the possibility of variable multiple gene involvement in spectrum phenotypes: Preliminary findings and hypothesis

American journal of medical genetics, 1995-10, Vol.60 (5), p.444-447

1995

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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

American Journal of Medical Genetics Part A, 2010, Vol.152A (7), p.1764-1769

2010

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Increased expression of aphidicolin-induced common fragile sites in Tourette syndrome: The key to understand the genetics of comorbid phenotypes?

American journal of medical genetics, 1996-02, Vol.67 (1), p.25-30

1996

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Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

The contribution of X-linked coding variation to severe developmental disorders

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

The spectrum of 4q- syndrome illustrated by a case series

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Mosaic Deletion of the NF 1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

Significant Evidence for Linkage Disequilibrium over a 5-cM Region among Afrikaners

Identification of Genetic Markers Associated with Gilles de la Tourette Syndrome in an Afrikaner Population

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12 qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

Novel etiological hypotheses imply new analysis methods for schizophrenia genetics

Increased chromosomal breakage in tourette syndrome predicts the possibility of variable multiple gene involvement in spectrum phenotypes: Preliminary findings and hypothesis

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

Increased expression of aphidicolin-induced common fragile sites in Tourette syndrome: The key to understand the genetics of comorbid phenotypes?

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