Publications by authors named "Natalie Hauser"

36Publications

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

Eur J Med Genet 2020 Jun 30;63(6):103925. Epub 2020 Mar 30.

Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1016/j.ejmg.2020.103925DOI Listing
June 2020

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.

Neuropediatrics 2019 08 21;50(4):257-261. Epub 2019 Jun 21.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1055/s-0039-1692129DOI Listing
August 2019

Pilot of urgent care center evaluation for acute coronary syndrome.

Am J Manag Care 2019 05 1;25(5):e160-e164. Epub 2019 May 1.

Kaiser Permanente Northwest, 500 N Multnomah Ave, Portland, OR 97232. Email:

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May 2019

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Mol Genet Genomic Med 2019 05 27;7(5):e648. Epub 2019 Mar 27.

Inova Translational Medicine Institute, Inova Fairfax Hospital, Virginia.

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http://dx.doi.org/10.1002/mgg3.648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503063PMC
May 2019

Endosomal trafficking defects in patient cells with biallelic variants.

Genes Dis 2019 Mar 7;6(1):56-67. Epub 2019 Jan 7.

Inova Translational Medicine Institute, Inova Health System, Fairfax, VA, United States.

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http://dx.doi.org/10.1016/j.gendis.2018.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411657PMC
March 2019

Rapidly growing, multifocal, benign choroid plexus tumor in an infant: case report.

J Neurosurg Pediatr 2019 Feb 22:1-6. Epub 2019 Feb 22.

2Beacon Children's Hospital, Beacon Medical Group North Central Neurosurgery, South Bend.

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http://dx.doi.org/10.3171/2018.12.PEDS18453DOI Listing
February 2019

Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Genet Med 2019 05 8;21(5):1240-1245. Epub 2018 Oct 8.

Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.

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http://www.nature.com/articles/s41436-018-0319-7
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http://dx.doi.org/10.1038/s41436-018-0319-7DOI Listing
May 2019

Mutation in an alternative transcript of in a boy with early-onset seizures.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983171PMC
June 2018

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

Severe bilateral cerebellar edema from ingestion of ketamine: case report.

J Neurosurg Pediatr 2017 Oct 15;20(4):393-396. Epub 2017 Aug 15.

Department of Neurological Surgery, Division of Pediatric Neurosurgery, Goodman Campbell Brain and Spine; and.

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http://dx.doi.org/10.3171/2017.5.PEDS16695DOI Listing
October 2017

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701300PMC
November 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Am J Med Genet A 2015 Sep 10;167A(9):2075-84. Epub 2015 May 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37127DOI Listing
September 2015

Whole exome sequence analysis of Peters anomaly.

Hum Genet 2014 Dec 3;133(12):1497-511. Epub 2014 Sep 3.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

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http://dx.doi.org/10.1007/s00439-014-1481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395516PMC
December 2014

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Am J Med Genet A 2014 May 23;164A(5):1118-26. Epub 2014 Jan 23.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36401DOI Listing
May 2014

Deletion of GPIHBP1 causing severe chylomicronemia.

J Inherit Metab Dis 2012 May 19;35(3):531-40. Epub 2011 Oct 19.

Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1007/s10545-011-9406-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319888PMC
May 2012

New frontiers in neuroimaging applications to inborn errors of metabolism.

Mol Genet Metab 2011 Nov 30;104(3):195-205. Epub 2011 Jun 30.

Department of Neurology, Children's National Medical Center, Washington, D.C. 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758691PMC
November 2011

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

Am J Clin Nutr 2011 Jan 3;93(1):47-56. Epub 2010 Nov 3.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA.

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https://academic.oup.com/ajcn/article/93/1/47/4597678
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http://dx.doi.org/10.3945/ajcn.110.004341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001598PMC
January 2011