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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Journal of autism and developmental disorders, 2017-03, Vol.47 (3), p.549-562

2017

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Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

Human molecular genetics, 2009-06, Vol.18 (11), p.1909-1923

2009

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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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Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

Clinical genetics, 2007-11, Vol.72 (5), p.411-419

2007

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A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation

American journal of human genetics, 1999-12, Vol.65 (6), p.1608-1616

1999

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SEMA3E mutation in a patient with CHARGE syndrome

Journal of medical genetics, 2004-07, Vol.41 (7), p.e94-e94

2004

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Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Journal of autism and developmental disorders, 2017-03, Vol.47 (3), p.563-563

2017

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Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

American journal of human genetics, 2006-02, Vol.78 (2), p.303-314

2006

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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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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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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Genome research, 2013-09, Vol.23 (9), p.1383-1394

2013

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

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

2007

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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e00676-n/a

2019

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Metabolomic adaptations and correlates of survival to immune checkpoint blockade

Nature communications, 2019-09, Vol.10 (1), p.4346-6, Article 4346

2019

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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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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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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

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

2017

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Brain targeted intranasal delivery of tramadol: comparative study of microemulsion and nanoemulsion

Pharmaceutical development and technology, 2015-12, Vol.20 (8), p.992-1001

2015

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Comparative analysis of drug response and gene profiling of HER2-targeted tyrosine kinase inhibitors

British journal of cancer, 2021-03, Vol.124 (7), p.1249-1259

2021

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Discovery of a periosteal stem cell mediating intramembranous bone formation

Nature (London), 2018-10, Vol.562 (7725), p.133-139

2018

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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

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

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation

SEMA3E mutation in a patient with CHARGE syndrome

Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

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

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

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

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

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

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Metabolomic adaptations and correlates of survival to immune checkpoint blockade

Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Other genomic disorders and congenital heart disease

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Brain targeted intranasal delivery of tramadol: comparative study of microemulsion and nanoemulsion

Comparative analysis of drug response and gene profiling of HER2-targeted tyrosine kinase inhibitors

Discovery of a periosteal stem cell mediating intramembranous bone formation

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