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Clinical application of whole-exome sequencing across clinical indications

Genetics in medicine, 2016-07, Vol.18 (7), p.696-704

2016

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mRNA Profiling for Body Fluid Identification by Multiplex Quantitative RT-PCR

Journal of forensic sciences, 2007-11, Vol.52 (6), p.1252-1262

2007

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Multiplex mRNA profiling for the identification of body fluids

Forensic science international, 2005-08, Vol.152 (1), p.1-12

2005

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P245: Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations

Genetics in Medicine Open, 2024, Vol.2, p.101141, Article 101141

2024

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Uniparental disomy in a population of 32,067 clinical exome trios

Genetics in medicine, 2021-06, Vol.23 (6), p.1101-1107

2021

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The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Proceedings of the National Academy of Sciences - PNAS, 2019-02, Vol.116 (9), p.3662-3667

2019

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De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Journal of medical genetics, 2019-02, Vol.56 (2), p.113-122

2019

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P149: Exome sequencing vs chromosomal microarray for copy number variant detection

Genetics in Medicine Open, 2024, Vol.2, p.101046, Article 101046

2024

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Human genetics, 2016-11, Vol.135 (11), p.1263-1268

2016

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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1791-1798

2016

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386

2018

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An mRNA and DNA co-isolation method for forensic casework samples

Analytical biochemistry, 2004-12, Vol.335 (2), p.289-298

2004

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Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

Pediatric neurology, 2017-05, Vol.70, p.70-74

2017

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P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

Genetics in Medicine Open, 2024, Vol.2, p.101111, Article 101111

2024

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P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Genetics in Medicine Open, 2024, Vol.2, p.101091, Article 101091

2024

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

PLoS genetics, 2018-10, Vol.14 (10), p.e1007748-e1007748

2018

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P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU

Genetics in Medicine Open, 2023, Vol.1 (1), p.100236, Article 100236

2023

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P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100450, Article 100450

2023

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Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation

The Journal of molecular diagnostics : JMD, 2012-09, Vol.14 (5), p.476-486

2012

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Increased frequency of micronuclei in adults with a history of childhood sexual abuse: a discordant monozygotic twin study

PloS one, 2013-01, Vol.8 (1), p.e55337-e55337

2013

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Recovery and Stability of RNA in Vaginal Swabs and Blood, Semen, and Saliva Stains

Journal of forensic sciences, 2008-03, Vol.53 (2), p.296-305

2008

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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Genetics in medicine, 2017-10, Vol.19 (10), p.1171-1178

2017

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Phenotypic Complexity and the Likelihood of a Diagnostic Result in a Sequencing Test of 2,300+ Genes Associated with Autism Spectrum Disorders and/or Intellectual Disability (P2.1-006)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification

Forensic science international, 2003-08, Vol.135 (2), p.85-96

2003

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First case of pan-suture craniosynostosis due to de novo mosaic KAT6A mutation

Child's nervous system, 2022, Vol.38 (1), p.173-177

2022

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Clinical application of whole-exome sequencing across clinical indications

mRNA Profiling for Body Fluid Identification by Multiplex Quantitative RT-PCR

Multiplex mRNA profiling for the identification of body fluids

P245: Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations

Uniparental disomy in a population of 32,067 clinical exome trios

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

P149: Exome sequencing vs chromosomal microarray for copy number variant detection

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

An mRNA and DNA co-isolation method for forensic casework samples

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU

P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation

Increased frequency of micronuclei in adults with a history of childhood sexual abuse: a discordant monozygotic twin study

Recovery and Stability of RNA in Vaginal Swabs and Blood, Semen, and Saliva Stains

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Phenotypic Complexity and the Likelihood of a Diagnostic Result in a Sequencing Test of 2,300+ Genes Associated with Autism Spectrum Disorders and/or Intellectual Disability (P2.1-006)

Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification

First case of pan-suture craniosynostosis due to de novo mosaic KAT6A mutation

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