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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Genome medicine, 2020-01, Vol.12 (1), p.14-14, Article 14

2020

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Human molecular genetics, 2010-04, Vol.19 (7), p.1263-1275

2010

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Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

Clinics in laboratory medicine, 2011-12, Vol.31 (4), p.595

2011

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Genome Research, 2009-09, Vol.19 (9), p.1682-1690

2009

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A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Journal of human genetics, 2020-08, Vol.65 (8), p.705-709

2020

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48

2019

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Mechanisms of ring chromosome formation, ring instability and clinical consequences

BMC medical genetics, 2011-12, Vol.12 (1), p.171-171, Article 171

2011

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315

2016

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AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608

2018

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Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing

Clinical chemistry (Baltimore, Md.), 2023-06, Vol.69 (6), p.545-547

2023

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Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Genetics in medicine, 2019-11, Vol.21 (11), p.2644-2649

2019

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.612-620

2019

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CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops

PloS one, 2013-09, Vol.8 (9), p.e75770-e75770

2013

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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

PloS one, 2014-10, Vol.9 (10), p.e108853-e108853

2014

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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Molecular cytogenetics, 2022-08, Vol.15 (1), p.1-33, Article 33

2022

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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Molecular cytogenetics, 2022-03, Vol.15 (1), p.10-10, Article 10

2022

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Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.298-308

2012

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The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor

Molecular and Cellular Biology, 2007-02, Vol.27 (4), p.1505-1515

2007

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Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

American journal of human genetics, 2013-03, Vol.92 (3), p.392-400

2013

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Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

Human mutation, 2022-11, Vol.43 (11), p.1531-1544

2022

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Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3033-3045

2012

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Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1326-1327

2010

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Genetics in medicine, 2019-05, Vol.21 (5), p.1100-1110

2019

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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Mechanisms of ring chromosome formation, ring instability and clinical consequences

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

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