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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

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

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

2024

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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

2019

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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 Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

JIMD Reports, Volume 43, 2019, Vol.43, p.79-83

2019

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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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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

2024

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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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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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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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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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Holoprosencephaly: A clinical genomics perspective

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.194-197

2018

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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

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

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

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 Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

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

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

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

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

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

Holoprosencephaly: A clinical genomics perspective

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