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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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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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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

American journal of human genetics, 2017-07, Vol.101 (1), p.139-148

2017

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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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Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3002-3017

2012

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Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1929-1939

2013

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Cardiac manifestations of Pallister-Killian syndrome

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1130-1135

2014

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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

Neurology. Genetics, 2017-02, Vol.3 (1), p.e130-e130

2017

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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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Congenital heart defects in oculodentodigital dysplasia: Report of two cases

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3150-3154

2013

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Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.993-1001

2013

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Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1268-1274

2015

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Recommendations for the integration of genomics into clinical practice

Genetics in medicine, 2016-11, Vol.18 (11), p.1075-1084

2016

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Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.977-982

2023

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Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

BMC bioinformatics, 2014-07, Vol.15 (1), p.248-248, Article 248

2014

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Genetics in medicine, 2018-03, Vol.20 (3), p.329-336

2018

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1663-1676

2018

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Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion

American journal of medical genetics. Part C, Seminars in medical genetics, 2016-06, Vol.172C (2), p.109-116

2016

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A Centralized Approach for Practicing Genomic Medicine

Pediatrics (Evanston), 2020-03, Vol.145 (3), p.1

2020

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Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2523-2530

2016

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Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

Molecular syndromology, 2023-08, Vol.14 (4), p.303-309

2023

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A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.809-812

2017

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.274-286

2022

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

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

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

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

Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

Cardiac manifestations of Pallister-Killian syndrome

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

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

Congenital heart defects in oculodentodigital dysplasia: Report of two cases

Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype

Recommendations for the integration of genomics into clinical practice

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

ANKRD11 variants: KBG syndrome and beyond

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion

A Centralized Approach for Practicing Genomic Medicine

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

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