PEOPLE

Bryan L. Krock, PhD

Assistant Professor of Clinical Pathology and Laboratory Medicine
University of Pennsylvania Perelman School of Medicine

Contact InformationThe Children's Hospital of Philadelphia
3615 Civic Center Boulevard, RM 710B ARC Bldg.
Philadelphia, PA, 19104
Office: 267-426-7588
Fax: 215-590-2156

Education

BS (Biology), Pennsylvania State University, 2003
PhD (Biology), Texas A&M University, 2009

Specialty Certification

American Board of Medical Genetics and Genomics, 2015

Postgraduate Training

Research Assistant, Department of Biology, Texas A&M University, 2005-2009
Postdoctoral Fellow, Abramson Family Cancer Research Institute, Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, 2009-2013
ABMG Clinical Molecular Genetics Fellow, University of Utah School of Medicine, Department of Pathology
ARUP Laboratories, Molecular Genetics and Genomics, 2013-2015

Awards and Honors

Knoll Scholarship, 1999-2003
Bayard D. and Ethel M. Kunkle Memorial Scholarship, 2000-2001
Texas A&M University Faculty of Neuroscience Spring Symposium Poster Contest, First Place., 2006
Texas A&M University Department of Biology Recruiting Weekend Poster Competition Winner, 2006
Texas and Southern Plains Zebrafish Conference Graduate Student Presentation Competition: First Place, 2007
Lawrence Dillon Distinguished Graduate Student Award (given to top Ph.D. candidate in the Biology Department), 2008
Individual Ruth F. Kirschstein F32 National Research Service award NRSA Award,, 2010
Roberts Memorial Fund Research Award, ARUP Laboratories,, 2014

Memberships and Professional Organizations

Association for Molecular Pathology Clinical Practice Committee., 2014 - 2015
American College of Medical Genetics and Genomics, 2016 - Present
Clinical and Laboratory Standards Institute, 2018 - Present

Web Links


Selected Publications

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

Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ., Child Neurol Open 23(5): , 2018, PMID:30046645

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MED13L-Related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J., Neurogenetics 19(2): 93-103, 2018, PMID:29511999

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

Olson Heather E, Jean-Marçais Nolwenn, Yang Edward, Heron Delphine, Tatton-Brown Katrina, van der Zwaag Paul A, Bijlsma Emilia K, Krock Bryan L, Backer E, Kamsteeg Erik-Jan, Sinnema Margje, Reijnders Margot R F, Bearden David, Begtrup Amber, Telegrafi Aida, Lunsing Roelineke J, Burglen Lydie, Lesca Gaetan, Cho Megan T, Smith Lacey A, Sheidley Beth R, Moufawad El Achkar Christelle, Pearl Phillip L, Poduri Annapurna, Skraban Cara M, Tarpinian Jennifer, Nesbitt Addie I, Fransen van de Putte Dietje E, Ruivenkamp Claudia A L, Rump Patrick, Chatron Nicolas, Sabatier Isabelle, De Bellescize Julitta, Guibaud Laurent, Sweetser David A, Waxler Jessica L, Wierenga Klaas J, Donadieu Jean, Narayanan Vinodh, Ramsey Keri M, Nava Caroline, Rivière Jean-Baptiste, Vitobello Antonio, Tran Mau-Them Frédéric, Philippe Christophe, Bruel Ange-Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan H, Schuurs-Hoeijmakers Janneke, Brunner Han G, Keren Boris, Thevenon Julien, Faivre Laurence, Thomas Gary, Thauvin-Robinet Christel, American journal of human genetics 102(5): 995-1007, 2018, PMID:29656858

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Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.

Vajravelu Mary Ellen, Chai Jinghua, Krock Bryan, Baker Samuel, Langdon David, Alter Craig, De León Diva D, The Journal of clinical endocrinology and metabolism 103(3): 1042-1047, 2018, PMID:29329447

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Missense Variants In RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M; Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C., Am J Hum Genet 102(1): 44-57, 2018

Neurodevelopment Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Carolien G. F. de Kovel, PhD1,2; Steffen Syrbe, MD, PhD3; Eva H. Brilstra, MD, PhD1; Nienke Verbeek, MD, PhD1; Bronwyn Kerr, PhD4,5,6; Holly Dubbs, MD7; Allan Bayat, MD, PhD8; Sonal Desai, MGC, CGC9; Sakkubai Naidu, MD10,11; Siddharth Srivastava, MD12; Hande Cagaylan, MD13; Uluc Yis, MD, PhD14; Carol Saunders, PhD15,16,17; Martin Rook, PhD18; Susanna Plugge, MSc19; Hiltrud Muhle, MD20; Zaid Afawi, MD, PhD21; Karl-Martin Klein, MD, PhD22; Vijayakumar Jayaraman, MSc23; Ramakrishnan Rajagopalan, PhD23; Ethan Goldberg, MD, PhD7; Eric Marsh, MD, PhD7; Sudha Kessler, MD, MSCE7; Christina Bergqvist, MD7; Laura K. Conlin, PhD23; Bryan L. Krock, PhD23; Isabelle Thiffault, PhD15,16; Manuela Pendziwiat, MSc20; Ingo Helbig, MD7,24; Tilman Polster, MD, PhD25; Ingo Borggraefe, MD, PhD26; Johannes R. Lemke, MD, PhD27; Marie-José van den Boogaardt, MD, PhD1; Rikke S. Møller, MSc, PhD8,28; Bobby P. C. Koeleman, PhD1, JAMA Neurology, 2017, PMID:28806457

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Ischemia Induces Quiescence and Autophagy Dependence in Hepatocellular Carcinoma

Gade TPF, Tucker E, Nakazawa MS, Hunt SJ, Wong W, Krock B, Weber CN, Nadolski GJ, Clark TWI, Soulen MC, Furth EE, Winkler JD, Amaravadi RK, Simon MC, Radiology 283(3): 702-710, 2017, PMID:28253108

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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.

Abou Tayoun Ahmad N, Krock Bryan, Spinner Nancy B, Expert Rev Mol Diagn 17(): 1-13, 2016, PMID:27388938

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

Mundy SA, Krock BL, Mao R, Shen JJ, Am J Med Genet A 170(3): 699-702, 2016, PMID:26494257

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Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

Suh E, Lee EB, Neal D, Wood EM, Toledo JB, Rennert L, Irwin DJ, McMillan CT, Krock B, Elman LB, McCluskey LF, Grossman M, Xie SX, Trojanowski JQ, Van Deerlin VM., Acta Neuropathol 130(3): 363-72, 2015, PMID:26022924

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