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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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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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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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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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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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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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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Genetics in medicine, 2020-04, Vol.22 (4), p.736-744

2020

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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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Autosomal dominant inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.548-552

2020

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A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

The Journal of biological chemistry, 2016-06, Vol.291 (24), p.12432-12443

2016

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Mobile element insertion detection in 89,874 clinical exomes

Genetics in medicine, 2020-05, Vol.22 (5), p.974-978

2020

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

American journal of human genetics, 2020-08, Vol.107 (2), p.352-363

2020

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An unusual case of nephrotic syndrome in a microcephalic infant: Answers

Pediatric nephrology (Berlin, West), 2019-11, Vol.34 (11), p.2327-2329

2019

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

American journal of human genetics, 2015-09, Vol.97 (3), p.457-464

2015

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An unusual case of nephrotic syndrome in a microcephalic infant: Questions

Pediatric nephrology (Berlin, West), 2019-11, Vol.34 (11), p.2325-2326

2019

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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

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

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 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

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

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

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Holoprosencephaly: A clinical genomics perspective

Autosomal dominant inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

Mobile element insertion detection in 89,874 clinical exomes

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

An unusual case of nephrotic syndrome in a microcephalic infant: Answers

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

An unusual case of nephrotic syndrome in a microcephalic infant: Questions

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