Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Bean, Lora, Funke, Birgit, Carlston, Colleen M., Gannon, Jennifer L., Kantarci, Sibel, Krock, Bryan L., Zhang, Shulin, Bayrak-Toydemir, Pinar
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Lukacs, Viktor, Mathur, Jayanti, Mao, Rong, Bayrak-Toydemir, Pinar, Procter, Melinda, Cahalan, Stuart M., Kim, Helen J., Bandell, Michael, Longo, Nicola, Day, Ronald W., Stevenson, David A., Patapoutian, Ardem, Krock, Bryan L.
Published in Nature communications (21.09.2015)
Published in Nature communications (21.09.2015)
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Journal Article
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Journal Article
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes
Skuli, Nicolas, Majmundar, Amar J, Krock, Bryan L, Mesquita, Rickson C, Mathew, Lijoy K, Quinn, Zachary L, Runge, Anja, Liu, Liping, Kim, Meeri N, Liang, Jiaming, Schenkel, Steven, Yodh, Arjun G, Keith, Brian, Simon, M Celeste
Published in The Journal of clinical investigation (01.04.2012)
Published in The Journal of clinical investigation (01.04.2012)
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Journal Article
Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes
Skuli, Nicolas, Majmundar, Amar J, Krock, Bryan L, Mesquita, Rickson C, Mathew, Lijoy K, Quinn, Zachary L, Runge, Anja, Liu, Liping, Kim, Meeri N, Liang, Jiaming, Schenkel, Steven, Yodh, Arjun G, Keith, Brian, Simon, M Celeste
Published in The Journal of clinical investigation (15.04.2024)
Published in The Journal of clinical investigation (15.04.2024)
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Journal Article
The aryl hydrocarbon receptor promotes IL-10 production by NK cells
Wagage, Sagie, John, Beena, Krock, Bryan L, Hall, Aisling O'Hara, Randall, Louise M, Karp, Christopher L, Simon, M Celeste, Hunter, Christopher A
Published in The Journal of immunology (1950) (15.02.2014)
Published in The Journal of immunology (1950) (15.02.2014)
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Journal Article
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.
Published in The Journal of molecular diagnostics : JMD (01.01.2019)
Published in The Journal of molecular diagnostics : JMD (01.01.2019)
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Journal Article
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
Published in The journal of clinical endocrinology and metabolism (01.03.2018)
Published in The journal of clinical endocrinology and metabolism (01.03.2018)
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Journal Article
BRAT1-related disease-identification of a patient without early lethality
Mundy, Sheraden A., Krock, Bryan L., Mao, Rong, Shen, Joseph J.
Published in American journal of medical genetics. Part A (01.03.2016)
Published in American journal of medical genetics. Part A (01.03.2016)
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Journal Article
The aryl hydrocarbon receptor nuclear translocator is an essential regulator of murine hematopoietic stem cell viability
Krock, Bryan L., Eisinger-Mathason, Tzipora S., Giannoukos, Dionysios N., Shay, Jessica E., Gohil, Mercy, Lee, David S., Nakazawa, Michael S., Sesen, Julie, Skuli, Nicolas, Simon, M. Celeste
Published in Blood (21.05.2015)
Published in Blood (21.05.2015)
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Journal Article
Retrograde Intraflagellar Transport by Cytoplasmic Dynein-2 Is Required for Outer Segment Extension in Vertebrate Photoreceptors but Not Arrestin Translocation
Krock, Bryan L, Mills-Henry, Ishara, Perkins, Brian D
Published in Investigative ophthalmology & visual science (01.11.2009)
Published in Investigative ophthalmology & visual science (01.11.2009)
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Journal Article
Natural and inducible TH17 cells are regulated differently by Akt and mTOR pathways
Kim, Jiyeon S, Sklarz, Tammarah, Banks, Lauren B, Gohil, Mercy, Waickman, Adam T, Skuli, Nicolas, Krock, Bryan L, Luo, Chong T, Hu, Weihong, Pollizzi, Kristin N, Li, Ming O, Rathmell, Jeffrey C, Birnbaum, Morris J, Powell, Jonathan D, Jordan, Martha S, Koretzky, Gary A
Published in Nature immunology (01.06.2013)
Published in Nature immunology (01.06.2013)
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Journal Article
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
Leung, Marco L., Ji, Jianling, Baker, Samuel, Buchan, Jillian G., Sivakumaran, Theru A., Krock, Bryan L., Hutchins, Rebecca, Bayrak-Toydemir, Pinar, Pfeifer, John, Cremona, Maria Laura, Funke, Birgit, Santani, Avni B.
Published in The Journal of molecular diagnostics : JMD (01.02.2022)
Published in The Journal of molecular diagnostics : JMD (01.02.2022)
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Journal Article
Sequencing-based diagnostics for pediatric genetic diseases: progress and potential
Abou Tayoun, Ahmad N, Krock, Bryan, Spinner, Nancy B
Published in Expert review of molecular diagnostics (01.09.2016)
Published in Expert review of molecular diagnostics (01.09.2016)
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Journal Article
Inhibition of hypoxia-inducible factors limits tumor progression in a mouse model of colorectal cancer
Shay, Jessica E.S., Imtiyaz, Hongxia Z., Sivanand, Sharanya, Durham, Amy C., Skuli, Nicolas, Hsu, Sarah, Mucaj, Vera, Eisinger-Mathason, T.S.Karin, Krock, Bryan L., Giannoukos, Dionysios N., Simon, M.Celeste
Published in Carcinogenesis (New York) (01.05.2014)
Published in Carcinogenesis (New York) (01.05.2014)
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Journal Article
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
Wu, Chao, Devkota, Batsal, Evans, Perry, Zhao, Xiaonan, Baker, Samuel W, Niazi, Rojeen, Cao, Kajia, Gonzalez, Michael A, Jayaraman, Pushkala, Conlin, Laura K, Krock, Bryan L, Deardorff, Matthew A, Spinner, Nancy B, Krantz, Ian D, Santani, Avni B, Tayoun, Ahmad N Abou, Sarmady, Mahdi
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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