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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., MD

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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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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Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management

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

2020

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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

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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

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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

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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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Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas

Journal of neurodevelopmental disorders, 2024-09, Vol.16 (1), p.52-10, Article 52

2024

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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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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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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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6q22.1 microdeletion and susceptibility to pediatric epilepsy

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

2015

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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

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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

HGG advances, 2024-10, Vol.5 (4), p.100345, Article 100345

2024

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

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

2006

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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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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

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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

Lung Transplantation for FLNA -Associated Progressive Lung Disease

Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management

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

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

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

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas

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

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

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

6q22.1 microdeletion and susceptibility to pediatric epilepsy

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

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Aortopathy in the 7q11.23 microduplication syndrome

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

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