Laurie D. Smith - Concepedia

Author

Laurie D. Smith

Also Known As

Euan A. Ashley, Glickman, Seth W, L D Smith, L Smith, L. Smith, L.D. Smith, LD Smith, Laurie D Smith, Laurie D. Smith, Laurie Smith

Publications

3.4K

Citations

H-Index

Concepts

All Affiliations

Children's Mercy Hospital University of Missouri–Kansas City Children’s Institute University of North Carolina at Chapel Hill Lurie Children's Hospital

About

Laurie D. Smith is an author at Children's Mercy Hospital specializing in medicine, genetics, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	15	1.5K
2	Public Health	4	4	121
3	Natural Sciences	2	2	62
4	Health Sciences	1	1	19
5	Social Sciences	1	1	527

Laurie D. Smith

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders Sarah Soden, Carol Saunders, Laurel K. Willig, Science Translational Medicine Neurological DisorderDiagnosisDisease Gene IdentificationMolecular DiagnosesSocial Sciences	2014	527
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings Laurel K. Willig, Josh E Petrikin, Laurie D. Smith, The Lancet Respiratory Medicine Whole-genome SequencingSequencingMendelian DisorderNext-generation SequencingGenetics	2015	403
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases Neil Miller, Emily Farrow, Margaret Gibson, Genome Medicine	2015	315
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants Josh E Petrikin, Julie A. Cakici, Michelle M. Clark, npj Genomic Medicine	2018	217
An integrated transcriptome and expressed variant analysis of sepsis survival and death Ephraim L. Tsalik, Raymond J. Langley, Darrell L. Dinwiddie, Genome Medicine	2014	101
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates Anne Guimier, George C. Gabriel, Fanny Bajolle, Nature Genetics Knockout MouseGenome InstabilityDevelopmental BiologyNormal Left-right AsymmetryCytogenetics	2015	88
Ovotestes and XY sex reversal in a female with an interstitial <i>9q33.3‐q34.1</i> deletion encompassing <i>NR5A1</i> and <i>LMX1B</i> causing features of genitopatellar syndrome Silke Schlaubitz, Svetlana A. Yatsenko, Laurie D. Smith, American Journal of Medical Genetics Part A	2007	84
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome Darrell L. Dinwiddie, Laurie D. Smith, Neil Miller, Genomics Mitochondrial MyopathySequencingMendelian DisorderMitochondrial FunctionMedicine	2013	76
CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria Carol Saunders, Laurie D. Smith, Flemming Wibrand, The American Journal of Human Genetics Clpb Variants AssociatedAutosomal-recessive Mitochondrial DisorderMendelian DisorderOphthalmologyGenetic Disorder	2015	73
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency Shweta U. Dhar, Fernando Scaglia, F.-Y. Li, Molecular Genetics and Metabolism Genetic DisorderMedicineGeneticsInherited Metabolic DiseaseHuman Polymorphism	2008	72

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