Austin Larson

Austin Larson

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Austin Larson

Austin Larson

Publications by authors named "Austin Larson"

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Tracheal and lower airway changes in a patient with mucolipidosis type II.

Pediatr Pulmonol 2020 Jul 8;55(7):1843-1845. Epub 2020 Apr 8.

Department of Pediatrics, Section of Pulmonology and Sleep Medicine, The Breathing Institute, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado.

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http://dx.doi.org/10.1002/ppul.24765DOI Listing
July 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 Jul 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.

Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164977PMC
April 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity.

Mitochondrion 2020 03 7;51:68-78. Epub 2020 Jan 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2020.01.004DOI Listing
March 2020

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.

J Child Neurol 2020 Feb 31;35(2):137-145. Epub 2019 Oct 31.

Section of Genetics, Department of Pediatrics, University of Colorado, School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1177/0883073819881940DOI Listing
February 2020

IRF2BPL gene mutation: Expanding on neurologic phenotypes.

Am J Med Genet A 2019 11 20;179(11):2263-2271. Epub 2019 Aug 20.

Department of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, Colorado.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61328
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http://dx.doi.org/10.1002/ajmg.a.61328DOI Listing
November 2019

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 10 9;381(17):1644-1652. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

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http://dx.doi.org/10.1056/NEJMoa1813279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961983PMC
October 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 06 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Pediatr Nephrol 2018 07 10;33(7):1257-1261. Epub 2018 Apr 10.

Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00467-018-3937-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990461PMC
July 2018

In memoriam.

J Inherit Metab Dis 2018 May 7. Epub 2018 May 7.

University of Colorado and Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1007/s10545-018-0191-2DOI Listing
May 2018

New insights into the phenotype of FARS2 deficiency.

Mol Genet Metab 2017 12 12;122(4):172-181. Epub 2017 Oct 12.

Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734183PMC
December 2017

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

JIMD Rep 2017 18;35:1-5. Epub 2016 Nov 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/8904_2016_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585103PMC
November 2016

Genetic causes of pituitary hormone deficiencies.

Discov Med 2015 Mar;19(104):175-83

Section of Genetics, Department of Pediatrics, University of Colorado Denver and Children's Hospital Colorado, Aurora, CO 80045, USA.

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March 2015

Association of head circumference and shoulder dystocia in macrosomic neonates.

Matern Child Health J 2013 Apr;17(3):501-4

Children's Hospital Colorado, University of Colorado Denver, Office of Graduate Medical Education, Box 158, 13123 E 16th Ave, Aurora, CO 80238, USA.

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http://dx.doi.org/10.1007/s10995-012-1013-zDOI Listing
April 2013

Seizures and methemoglobinemia in an infant after excessive EMLA application.

Pediatr Emerg Care 2013 Mar;29(3):377-9

Department of Pediatrics, University of Colorado Anschutz Medical Center, Children's Hospital Colorado, Aurora, USA.

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http://dx.doi.org/10.1097/PEC.0b013e3182854790DOI Listing
March 2013

Disorders of sex development: clinically relevant genes involved in gonadal differentiation.

Discov Med 2012 Nov;14(78):301-9

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.

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November 2012