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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Science translational medicine, 2014-12, Vol.6 (265), p.265ra168

2014

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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Genome medicine, 2015-09, Vol.7 (1), p.100-100, Article 100

2015

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GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant

Neurobiology of disease, 2017-10, Vol.106, p.181-190

2017

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A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence

Clinical and translational science, 2022-10, Vol.15 (10), p.2514-2527

2022

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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

The Journal of general physiology, 2015-11, Vol.146 (5), p.399-410

2015

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PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1585-1589

2016

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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6 , from whole-genome sequences

Npj genomic medicine, 2016-01, Vol.1 (1), p.15007-15007, Article 15007

2016

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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Genomics (San Diego, Calif.), 2013-09, Vol.102 (3), p.148-156

2013

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The Future of Next-Generation Sequencing in Neurology

JAMA neurology, 2015-09, Vol.72 (9), p.971

2015

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De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

BMC medical genomics, 2013-09, Vol.6 (1), p.32-32

2013

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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

Genomics (San Diego, Calif.), 2013-11, Vol.102 (5-6), p.442-447

2013

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15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features

Journal of developmental and behavioral pediatrics, 2012-09, Vol.33 (7), p.570-576

2012

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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

BMC medical genetics, 2017-11, Vol.18 (1), p.124-124, Article 124

2017

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Clinical and Pharmacologic Considerations for Guanfacine Use in Very Young Children

Journal of child and adolescent psychopharmacology, 2016-08, Vol.26 (6), p.498-504

2016

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Nutrition, physical activity, and bone mineral density in youth with autistic spectrum disorders

Journal of developmental and behavioral pediatrics, 2012-10, Vol.33 (8), p.618-624

2012

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In vivo characterization of CYP2D612, 29 and 84 using dextromethorphan as a probe drug: a case report

Pharmacogenomics, 2017-04, Vol.18 (5), p.427-431

2017

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Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

BMC medical genetics, 2016-11, Vol.17 (1), p.86-86, Article 86

2016

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Next-generation community genetics for low- and middle-income countries

Genome medicine, 2012-03, Vol.4 (3), p.25-25

2012

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Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

Expert review of molecular diagnostics, 2011-11, Vol.11 (8), p.855-868

2011

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24-Hour Provoked Urine Excretion Test for Heavy Metals in Children with Autism and Typically Developing Controls, a Pilot Study

Clinical toxicology (Philadelphia, Pa.), 2007-06, Vol.45 (5), p.476-481

2007

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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

Npj genomic medicine, 2017-01, Vol.2, p.16039-16039

2017

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Genomic medicine: evolving science, evolving ethics

Personalized medicine, 2012-07, Vol.9 (5), p.523-528

2012

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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve

Genetics in medicine, 2020-02, Vol.22 (2), p.416-422

2020

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

An integrated clinico-metabolomic model improves prediction of death in sepsis

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant

A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6 , from whole-genome sequences

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

The Future of Next-Generation Sequencing in Neurology

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Clinical and Pharmacologic Considerations for Guanfacine Use in Very Young Children

Nutrition, physical activity, and bone mineral density in youth with autistic spectrum disorders

In vivo characterization of CYP2D612, 29 and 84 using dextromethorphan as a probe drug: a case report

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Next-generation community genetics for low- and middle-income countries

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

24-Hour Provoked Urine Excretion Test for Heavy Metals in Children with Autism and Typically Developing Controls, a Pilot Study

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

Genomic medicine: evolving science, evolving ethics

Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve

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