Laurie D Smith

Laurie D Smith

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Laurie D Smith

Laurie D Smith

Publications by authors named "Laurie D Smith"

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21Publications

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 Jan 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Am J Med Genet A 2017 Oct 27;173(10):2720-2724. Epub 2017 Jul 27.

Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38351DOI Listing
October 2017

Rapid whole genome sequencing and precision neonatology.

Semin Perinatol 2015 Dec 29;39(8):623-31. Epub 2015 Oct 29.

Rady Pediatric Genomics and Systems Medicine Institute, Rady Children's Hospital, San Diego, CA; Department of Pathology and Laboratory Medicine, Center for Pediatric Genomic Medicine, Children's Mercy Hospital Kansas City, Kansas City, MO.

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http://dx.doi.org/10.1053/j.semperi.2015.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657860PMC
December 2015

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Cold Spring Harb Perspect Med 2015 Dec 18;6(2):a023168. Epub 2015 Dec 18.

Department of Pediatrics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108 Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri 64108.

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http://perspectivesinmedicine.cshlp.org/lookup/doi/10.1101/c
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http://dx.doi.org/10.1101/cshperspect.a023168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743073PMC
December 2015

An ethical framework for responding to drug shortages in pediatric oncology.

Pediatr Blood Cancer 2015 Jun 2;62(6):931-4. Epub 2015 Mar 2.

University of Nebraska Medical Center, Omaha, Nebraska.

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http://dx.doi.org/10.1002/pbc.25461DOI Listing
June 2015

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

Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:

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http://dx.doi.org/10.1016/S2213-2600(15)00139-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479194PMC
May 2015

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

Sci Transl Med 2014 Dec;6(265):265ra168

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1126/scitranslmed.3010076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286868PMC
December 2014

The role of sterol-C4-methyl oxidase in epidermal biology.

Biochim Biophys Acta 2014 Mar 18;1841(3):331-5. Epub 2013 Oct 18.

Department of Pediatrics, University of Pittsburgh School of Medicine, Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA USA.

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http://dx.doi.org/10.1016/j.bbalip.2013.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943829PMC
March 2014

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

J Inherit Metab Dis 2012 May 24;35(3):437-42. Epub 2011 Aug 24.

Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1007/s10545-011-9381-xDOI Listing
May 2012

Ophthalmologic manifestations of systemic disease.

Int Ophthalmol Clin 2010 ;50(4):27-43

Children’s Mercy Hospital and Clinics, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1097/IIO.0b013e3181f128ffDOI Listing
March 2011

Determination of benzoic acid in serum or plasma by gas chromatography-mass spectrometry (GC/MS).

Methods Mol Biol 2010 ;603:121-8

Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA.

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http://dx.doi.org/10.1007/978-1-60761-459-3_11DOI Listing
April 2010