Publications by authors named "Richard E Lutz"

12Publications

The iron-sulphur cluster in human DNA2 is required for all biochemical activities of DNA2.

Commun Biol 2020 Jun 23;3(1):322. Epub 2020 Jun 23.

Institute of Molecular Cancer Research, University of Zurich, 8057, Zurich, Switzerland.

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http://dx.doi.org/10.1038/s42003-020-1048-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311471PMC
June 2020

Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Child Neurol Open 2018 23;5:2329048X18789282. Epub 2018 Jul 23.

Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1177/2329048X18789282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056774PMC
July 2018

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Genet Med 2016 05 24;18(5):513-21. Epub 2015 Sep 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2015.121DOI Listing
May 2016

Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss.

J Pediatr Genet 2014 Mar;3(1):29-34

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Department of Orthopedic Surgery, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.3233/PGE-14080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020983PMC
March 2014

Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

JAMA Dermatol 2013 May;149(5):559-64

Department of Dermatology and Cutaneous Surgery, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1001/2013.jamadermatol.115DOI Listing
May 2013

Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings.

J Pediatr Endocrinol Metab 2012 ;25(5-6):493-7

University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, 68198-5440, USA.

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http://dx.doi.org/10.1515/jpem-2011-0498DOI Listing
September 2012

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

J Pediatr Gastroenterol Nutr 2009 Jul;49(1):126-9

Department of Genetics, Endocrinology, and Metabolism, Munroe-Meyer Institute, USA.

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http://dx.doi.org/10.1097/MPG.0b013e31817d9cadDOI Listing
July 2009

Trinucleotide repeat disorders.

Authors:
Richard E Lutz

Semin Pediatr Neurol 2007 Mar;14(1):26-33

University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE 68198-5430, USA.

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http://dx.doi.org/10.1016/j.spen.2006.11.006DOI Listing
March 2007

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders.

Genet Med 2006 Sep;8(9):549-56

Munroe-Meyer Institute for Genetics and Rehabilitation, 985430 University of Nebraska Medical Center, Omaha, NE 68198, USA.

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http://dx.doi.org/10.1097/01.gim.0000237789.98842.f1DOI Listing
September 2006