| Year |
Citation |
Score |
| 2020 |
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, ... ... Krock BL, et al. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. American Journal of Human Genetics. PMID 32442410 DOI: 10.1016/J.Ajhg.2020.04.015 |
0.311 |
|
| 2020 |
Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. American Journal of Medical Genetics. Part A. PMID 32133772 DOI: 10.1002/Ajmg.A.61531 |
0.305 |
|
| 2019 |
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Human Mutation. PMID 31343788 DOI: 10.1002/Humu.23879 |
0.335 |
|
| 2018 |
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, ... Krock B, et al. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. American Journal of Human Genetics. PMID 30471718 DOI: 10.1016/J.Ajhg.2018.10.020 |
0.359 |
|
| 2018 |
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, et al. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. American Journal of Human Genetics. PMID 29656858 DOI: 10.1016/J.Ajhg.2018.03.005 |
0.343 |
|
| 2018 |
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, ... ... Krock BL, et al. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics. PMID 29511999 DOI: 10.1007/S10048-018-0541-0 |
0.327 |
|
| 2017 |
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, et al. 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. PMID 29276004 DOI: 10.1016/J.Ajhg.2017.11.008 |
0.383 |
|
| 2015 |
Mundy SA, Krock BL, Mao R, Shen JJ. BRAT1-related disease-identification of a patient without early lethality. American Journal of Medical Genetics. Part A. PMID 26494257 DOI: 10.1002/Ajmg.A.37434 |
0.301 |
|
| 2015 |
Lukacs V, Mathur J, Mao R, Bayrak-Toydemir P, Procter M, Cahalan SM, Kim HJ, Bandell M, Longo N, Day RW, Stevenson DA, Patapoutian A, Krock BL. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. Nature Communications. 6: 8329. PMID 26387913 DOI: 10.1038/Ncomms9329 |
0.317 |
|
| 2014 |
Krock BL, Perkins BD. The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors. Plos One. 9: e104661. PMID 25144710 DOI: 10.1371/Journal.Pone.0104661 |
0.576 |
|
| 2009 |
Krock BL, Mills-Henry I, Perkins BD. Retrograde intraflagellar transport by cytoplasmic dynein-2 is required for outer segment extension in vertebrate photoreceptors but not arrestin translocation. Investigative Ophthalmology & Visual Science. 50: 5463-71. PMID 19474410 DOI: 10.1167/Iovs.09-3828 |
0.612 |
|
| 2008 |
Krock BL, Perkins BD. The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors. Journal of Cell Science. 121: 1907-15. PMID 18492793 DOI: 10.1242/Jcs.029397 |
0.614 |
|
| 2007 |
Krock BL, Bilotta J, Perkins BD. Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia. Proceedings of the National Academy of Sciences of the United States of America. 104: 4600-5. PMID 17360570 DOI: 10.1073/Pnas.0605818104 |
0.624 |
|
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