Bryan L. Krock
Affiliations: | University of Pennsylvania, Philadelphia, PA, United States |
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"Bryan Krock"Mean distance: 16.25 (cluster 11) | S | N | B | C | P |
Parents
Sign in to add mentor| Brian D. Perkins | grad student | 2009 | Texas A & M | |
| (A molecular analysis of protein trafficking in the vertebrate retina: Implications for intraflagellar transport and human disease.) | ||||
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Publications
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| Tolchin D, Yeager JP, Prasad P, et al. (2020) De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. American Journal of Human Genetics |
| Pritchard AB, Kanai SM, Krock B, et al. (2020) Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. American Journal of Medical Genetics. Part A |
| Gilbert MA, Bauer RC, Rajagopalan R, et al. (2019) Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Human Mutation |
| Loges NT, Antony D, Maver A, et al. (2018) Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. American Journal of Human Genetics |
| Olson HE, Jean-Marçais N, Yang E, et al. (2018) A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. American Journal of Human Genetics |
| Smol T, Petit F, Piton A, et al. (2018) MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics |
| Straub J, Konrad EDH, Grüner J, et al. (2017) Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics |
| Mundy SA, Krock BL, Mao R, et al. (2015) BRAT1-related disease-identification of a patient without early lethality. American Journal of Medical Genetics. Part A |
| Lukacs V, Mathur J, Mao R, et al. (2015) Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. Nature Communications. 6: 8329 |
| Krock BL, Perkins BD. (2014) The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors. Plos One. 9: e104661 |