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Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

BMC medical genomics, 2019-11, Vol.12 (1), p.170-170, Article 170

2019

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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.59-59, Article 59

2023

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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.68-68, Article 68

2023

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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1669-1676

2021

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The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1478-1489

2018

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Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

Genes chromosomes & cancer, 2009-08, Vol.48 (8), p.737-744

2009

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

American journal of human genetics, 2012-08, Vol.91 (2), p.252-264

2012

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.919-927

2019

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Central 22q11.2 deletions

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2707-2723

2014

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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

Neurogenetics, 2011-11, Vol.12 (4), p.315-323

2011

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.337-348

2020

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An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

European journal of medical genetics, 2010-01, Vol.53 (1), p.45-49

2010

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Structural and Functional Genomics of the CPT1B Gene for Muscle-type Carnitine Palmitoyltransferase I in Mammals

The Journal of biological chemistry, 2002-07, Vol.277 (30), p.26994-27005

2002

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Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.896-898

2023

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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2013-06, Vol.162B (4), p.388-403

2013

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Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation

European journal of medical genetics, 2005-07, Vol.48 (3), p.250-262

2005

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Diagnostic interpretation of array data using public databases and internet sources

Human mutation, 2012-06, Vol.33 (6), p.930-940

2012

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PRRT2-related phenotypes in patients with a 16p11.2 deletion

European journal of medical genetics, 2019-04, Vol.62 (4), p.265-269

2019

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Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.161-165

2012

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Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

European journal of human genetics : EJHG, 2011-11, Vol.19 (11), p.1152-1160

2011

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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

Neurogenetics, 2011-11, Vol.12 (4), p.315-323

2011

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

European journal of medical genetics, 2009-03, Vol.52 (2), p.108-115

2009

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Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

OBM Genetics, 2018-07, Vol.2 (4), p.1-1

2018

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2739-2745

2011

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Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation

Human genetics, 1996-07, Vol.98 (1), p.16-21

1996

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Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Central 22q11.2 deletions

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

Structural and Functional Genomics of the CPT1B Gene for Muscle-type Carnitine Palmitoyltransferase I in Mammals

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation

Diagnostic interpretation of array data using public databases and internet sources

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation

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