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Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Frontiers in pediatrics, 2020-10, Vol.8, p.574857-574857

2020

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Current Genetic Testing Tools in Neonatal Medicine

Pediatrics and neonatology, 2017-04, Vol.58 (2), p.111-121

Lalani, Seema R

2017

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

PLoS genetics, 2017-07, Vol.13 (7), p.e1006905

2017

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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Proceedings of the National Academy of Sciences - PNAS, 2018-01, Vol.115 (4), p.E620-E629

2018

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Mechanisms for Complex Chromosomal Insertions

PLoS genetics, 2016-11, Vol.12 (11), p.e1006446

2016

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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

PloS one, 2017-04, Vol.12 (4), p.e0175962

2017

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Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Frontiers in pediatrics, 2020-12, Vol.8, p.624141-624141

2020

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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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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36

PloS one, 2014-01, Vol.9 (1), p.e85600

2014

Volltextzugriff (PDF)

Other genomic disorders and congenital heart disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-03, Vol.184 (1), p.107-115

Lalani, Seema R.

2020

Volltextzugriff (PDF)

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

American journal of human genetics, 2008-01, Vol.82 (1), p.214-221

2008

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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Human molecular genetics, 2009-10, Vol.18 (19), p.3579-3593

2009

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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in neuroscience, 2019-05, Vol.13, p.394-394

2019

Volltextzugriff (PDF)

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Journal of the American Heart Association, 2023-09, Vol.12 (18), p.e029340-e029340

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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A novel CACNA1A variant in a child with early stroke and intractable epilepsy

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1383-n/a

2020

Volltextzugriff (PDF)

6q22.1 microdeletion and susceptibility to pediatric epilepsy

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.173-179

2015

Volltextzugriff (PDF)

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Genetics in medicine, 2006-11, Vol.8 (11), p.719-727

2006

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

PLoS genetics, 2013-09, Vol.9 (9), p.e1003797-e1003797

2013

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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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Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in neuroscience, 2020-01, Vol.13, p.1344-1344

2020

Volltextzugriff (PDF)

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Journal of medical genetics, 2022-03, Vol.59 (3), p.270

2022

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Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Genetics in medicine, 2019-01, Vol.21 (1), p.3-16

2019

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OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Frontiers in cell and developmental biology, 2021-03, Vol.9, p.631428-631428

2021

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Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Current Genetic Testing Tools in Neonatal Medicine

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Mechanisms for Complex Chromosomal Insertions

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Lung Transplantation for FLNA -Associated Progressive Lung Disease

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36

Other genomic disorders and congenital heart disease

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

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

A novel CACNA1A variant in a child with early stroke and intractable epilepsy

6q22.1 microdeletion and susceptibility to pediatric epilepsy

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

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

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

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

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

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