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Personalized medicine approach confirms a milder case of ABAT deficiency

Molecular brain, 2016-12, Vol.9 (1), p.93-93, Article 93

2016

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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

Journal of medical genetics, 2009-09, Vol.46 (9), p.626-634

2009

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20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Journal of medical genetics, 2009-03, Vol.46 (3), p.168-175

2009

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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome

Clinical genetics, 2007-10, Vol.72 (4), p.329-338

2007

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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.75-75, Article 75

2015

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Lung Transplantation for FLNA -Associated Progressive Lung Disease

The Journal of pediatrics, 2017-07, Vol.186, p.118-123.e6

2017

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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

American journal of human genetics, 2016-02, Vol.98 (2), p.347-357

2016

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human genetics, 2017-04, Vol.136 (4), p.377-386

2017

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Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

Genetics in medicine, 2020-08, Vol.22 (8), p.1303-1310

2020

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A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2903-2912

2021

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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

JAMA pediatrics, 2017-12, Vol.171 (12), p.e173438

2017

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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Genetics in medicine, 2023-04, Vol.25 (4), p.100352-100352, Article 100352

2023

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Phenotypic manifestations of copy number variation in chromosome 16p13.11

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.280-286

2011

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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2242-2251

2008

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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child

European journal of medical genetics, 2019-11, Vol.62 (11), p.103567-103567, Article 103567

2019

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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

American journal of human genetics, 2016-05, Vol.98 (5), p.963-970

2016

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.278-284

2010

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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Journal of medical genetics, 2017-01, Vol.54 (1), p.47

2017

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Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.176-179

2012

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An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome

Seminars in thoracic and cardiovascular surgery, 2020-01, Vol.32 (4), p.947-957

2020

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Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2664-2673

2015

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Evaluation of the Utility of Radiography in Acute Bronchiolitis

The Journal of pediatrics, 2007-04, Vol.150 (4), p.429-433

2007

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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2742-2747

2015

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Aortopathy in the 7q11.23 microduplication syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.363-370

2015

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Personalized medicine approach confirms a milder case of ABAT deficiency

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Lung Transplantation for FLNA -Associated Progressive Lung Disease

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Evaluation of the Utility of Radiography in Acute Bronchiolitis

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

Aortopathy in the 7q11.23 microduplication syndrome

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