Gunter Scharer

Gunter Scharer

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Gunter Scharer

Gunter Scharer

Publications by authors named "Gunter Scharer"

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26Publications

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A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.

Genet Med 2018 01 20;20(1):142-150. Epub 2017 Jul 20.

Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2017.104DOI Listing
January 2018

Biallelic variants in an infant with severe arthrogryposis.

Neurol Genet 2017 Jun 9;3(3):e154. Epub 2017 May 9.

Department of Medical Genetics and Genomics (S.C.R., G.H.S.), Children's Minnesota, Minneapolis; Department of Neurology (P.G.-A.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Raymond G. Perelman Center for Cellular & Molecular Therapeutics (P.G.-A.), The Children's Hospital of Philadelphia, PA.

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http://dx.doi.org/10.1212/NXG.0000000000000154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424540PMC
June 2017

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Mol Genet Metab 2016 09 1;119(1-2):50-6. Epub 2016 Jul 1.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, OH, United States; Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.012DOI Listing
September 2016

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

J Med Genet 2015 Aug 18;52(8):532-40. Epub 2015 Mar 18.

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103049DOI Listing
August 2015

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

Genome Med 2012 30;4(10):80. Epub 2012 Oct 30.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, CO 80045, USA ; Intellectual and Developmental Disabilities Research Center, University of Colorado Denver, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1186/gm381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580449PMC
June 2014

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Am J Med Genet A 2013 Dec 2;161A(12):2953-63. Epub 2013 Oct 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics-Hematology-Oncology, Baylor College of Medicine and Texas Children's Cancer Center, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.35886DOI Listing
December 2013

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Mitochondrion 2013 Nov 22;13(6):656-61. Epub 2013 Sep 22.

Department of Pediatrics, University of Colorado, 13121 East 17th Avenue, Aurora, CO 80045, USA; Division of Pediatric Neurology, Oregon Health Sciences Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.mito.2013.09.004DOI Listing
November 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

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

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

J Inherit Metab Dis 2012 Mar 15;35(2):253-61. Epub 2011 Oct 15.

Department of Pediatrics, Charité Universitätsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9398
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http://www.springerlink.com/index/H7HX72L138217417.pdf
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http://link.springer.com/10.1007/s10545-011-9398-1
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http://dx.doi.org/10.1007/s10545-011-9398-1DOI Listing
March 2012

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24.

Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.014DOI Listing
January 2012

Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region.

Clin Dysmorphol 2011 Oct;20(4):217-21

Arabian Gulf University, Manama, Bahrain, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1097/MCD.0b013e328348b2c6DOI Listing
October 2011

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

J Inherit Metab Dis 2010 Oct 3;33(5):571-81. Epub 2010 Sep 3.

Department of Pediatrics, University of Colorado Denver, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1007/s10545-010-9187-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112356PMC
October 2010

Neonatal liver failure: a genetic and metabolic perspective.

Curr Opin Pediatr 2010 Apr;22(2):241-5

Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Denver, Colorado, USA.

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http://dx.doi.org/10.1097/MOP.0b013e328336ebe1DOI Listing
April 2010

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Am J Med Genet A 2007 Oct;143A(20):2430-4

Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31932
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http://dx.doi.org/10.1002/ajmg.a.31932DOI Listing
October 2007