Bryan L Krock

Bryan L Krock

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Bryan L Krock

Bryan L Krock

Publications by authors named "Bryan L Krock"

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18Publications

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Hum Mutat 2019 Jul 25. Epub 2019 Jul 25.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23879DOI Listing
July 2019

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

BRAT1-related disease--identification of a patient without early lethality.

Am J Med Genet A 2016 Mar 22;170(3):699-702. Epub 2015 Oct 22.

Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California.

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http://dx.doi.org/10.1002/ajmg.a.37434DOI Listing
March 2016

The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors.

PLoS One 2014 21;9(8):e104661. Epub 2014 Aug 21.

Department of Biology, Texas A&M University, College Station, Texas, United States of America; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104661PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140697PMC
May 2015

The aryl hydrocarbon receptor nuclear translocator is an essential regulator of murine hematopoietic stem cell viability.

Blood 2015 May 8;125(21):3263-72. Epub 2015 Apr 8.

Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Howard Hughes Medical Institute, Philadelphia, PA; and.

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http://dx.doi.org/10.1182/blood-2014-10-607267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440881PMC
May 2015

Neural tube defects and atypical deletion on 22q11.2.

Am J Med Genet A 2014 Nov 13;164A(11):2701-6. Epub 2014 Aug 13.

Center for Rare Diseases, Departments of Pediatrics, Catholic University, Rome, Italy; University of Utah, Department of Pediatrics, Division of Medical Genetics, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205263PMC
November 2014

The aryl hydrocarbon receptor promotes IL-10 production by NK cells.

J Immunol 2014 Feb 8;192(4):1661-70. Epub 2014 Jan 8.

Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104;

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http://dx.doi.org/10.4049/jimmunol.1300497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955958PMC
February 2014

Hypoxia-induced angiogenesis: good and evil.

Genes Cancer 2011 Dec;2(12):1117-33

Abramson Family Cancer Research Institute, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/1947601911423654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411127PMC
December 2011

Retrograde intraflagellar transport by cytoplasmic dynein-2 is required for outer segment extension in vertebrate photoreceptors but not arrestin translocation.

Invest Ophthalmol Vis Sci 2009 Nov 27;50(11):5463-71. Epub 2009 May 27.

Department of Biology, Texas A&M University, College Station, Texas 77843, USA.

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http://dx.doi.org/10.1167/iovs.09-3828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777535PMC
November 2009

Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia.

Proc Natl Acad Sci U S A 2007 Mar 5;104(11):4600-5. Epub 2007 Mar 5.

Department of Biology, Texas A & M University, College Station, TX 77843, USA.

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http://dx.doi.org/10.1073/pnas.0605818104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1810335PMC
March 2007