Klaas J Wierenga, MD, MSc - OUHSC - Assoc Prof

Klaas J Wierenga

MD, MSc

OUHSC

Assoc Prof

Oklahoma City, OK | United States

Main Specialties: Biology

Additional Specialties: Medical Genetics, Medical Biochemical Genetics

Klaas J Wierenga, MD, MSc - OUHSC - Assoc Prof

Klaas J Wierenga

MD, MSc

Introduction

Primary Affiliation: OUHSC - Oklahoma City, OK , United States

Specialties:

Additional Specialties:

Publications

7Publications

100Reads

-Profile Views

99PubMed Central Citations

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Proc Natl Acad Sci U S A 2014 Mar 3;111(11):4197-202. Epub 2014 Mar 3.

Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104.

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http://dx.doi.org/10.1073/pnas.1312520111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964084PMC
March 2014
28 Reads
39 Citations
9.810 Impact Factor

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

Genet Med 2013 May 25;15(5):354-60. Epub 2012 Oct 25.

Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK, USA.

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http://dx.doi.org/10.1038/gim.2012.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908554PMC
May 2013
14 Reads
18 Citations
7.330 Impact Factor

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Am J Med Genet A 2012 Nov 14;158A(11):2935-40. Epub 2012 Sep 14.

College of Medicine, University of Oklahoma, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1002/ajmg.a.35613DOI Listing
November 2012
21 Reads
6 Citations
2.160 Impact Factor

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Arch Neurol 2010 Feb;67(2):239-44

Columbia University College of Physicians and Surgeons, 630 W 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2009.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826985PMC
February 2010
17 Reads
5 Citations
7.420 Impact Factor

Galactose toxicity in animals.

IUBMB Life 2009 Nov;61(11):1063-74

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1002/iub.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788023PMC
November 2009
14 Reads
21 Citations
3.143 Impact Factor

High-throughput screening for human galactokinase inhibitors.

J Biomol Screen 2008 Jun 19;13(5):415-23. Epub 2008 May 19.

Department of Pediatrics, Leonard M. Miller School of Medicine, University of Miami, Miami, Florida 33101, USA.

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http://dx.doi.org/10.1177/1087057108318331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2705177PMC
June 2008
5 Reads
10 Citations
2.423 Impact Factor

Top co-authors

Kent Lai
Kent Lai

University of Miami

2
Zhijie Jiang
Zhijie Jiang

University of Miami

2
Ali Naini
Ali Naini

Columbia University Medical Center

1
David B Everman
David B Everman

Mount Sinai School of Medicine

1
Lieven Lagae
Lieven Lagae

University Hospitals Leuven

1
Jaak Jaeken
Jaak Jaeken

Center for Metabolic Disease

1