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K

Keith Nykamp

labcorp genetics inc
H指数:24
被引数:2,509

个人简介

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教育背景

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工作经历

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荣誉奖项

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Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference

利用基因型和表型数据，结合大型语言模型和贝叶斯推断，进行大规模群体变异分类。

HUMAN GENETICS
IF3.6
2025-04-230
OA
Toby R. Manders; Christopher A. Tan; Yuya Kobayashi; Alexander Wahl; Carlos Araya; Alexandre Colavin; Flavia M. Facio; Hillery Metz; Jason Reuter; Laure Frésard; Samskruthi R. Padigepati; David A. Stafford; Robert L. Nussbaum; Keith Nykamp
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification

用于生成、验证和整合来自高通量功能测定的数据以改善临床变异分类的可扩展方法

HUMAN GENETICS
IF3.6
2024-08-011
OAAI
Padigepati, Samskruthi Reddy; Stafford, David A.; Tan, Christopher A.; Silvis, Melanie R.; Jamieson, Kirsty; Keyser, Andrew; Nunez, Paola Alejandra Correa; Nicoludis, John M.; Manders, Toby; Fresard, Laure; Kobayashi, Yuya; Araya, Carlos L.; Aradhya, Swaroop; Johnson, Britt; Nykamp, Keith; Reuter, Jason A.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
HUMAN GENOMICS
IF4.3
2024-04-293
OAAI
Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2024-04-012
OAAI
Ansari, Morad; Faour, Kamli N. W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J. L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stuhn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayioti; Bujakowksa, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tuettelmann, Frank; Conrad, Donald F.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Fitzpatrick, David R.; Boone, Philip M.
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
EUROPEAN RESPIRATORY JOURNAL
IF21
2023-10-270
OA
Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (vol 74, pg 258, 2019)
GENETICS IN MEDICINE
IF6.2
2020-01-0113
OAAI
Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott; Aguilar, Sienna; Aradhya, Swaroop; Beltran, Daniel; Bunker, Brandon; Daly, Amy; Deucher, Anne; Ekstein, Tali; Entezam, Ali; Erhard, Karl; Esplin, Ed; Fulbright, Jennifer; Fuller, Amy; Gibson, Kristen McDonald; Hambuch, Tina; Harte, Rachel; Hartshorne, Christy; Haverfield, Eden; Heidari, Nastaran; Hogue, Michelle; Iacoboni, Daniela; Johnson, Britt; Kang, Hio Chung; Lewis, Rachel; Martin, Shiloh; McCalmon, Sarah; Michalski, Scott; Morgan, Cindy; Murillo, Laura; Nicolosi, Piper; Ouyang, Karen; Pardo, Carolina; Quintana, Rita; Rabideau, Marina; Riethmaier, Darlene; Stafford, Amanda; Tahiliani, Jackie; Tan, Chris; Taylor, S. Paige; Wang, Shu-Huei; White, Hannah; Wilson, Ian; Winder, Tom; Zeman, Michelle K.

研究方向

暂未获取到该数据
Y
Yuya Kobayashi
H 指数:11论文数:49被引数:2,432
R
Robert L. Nussbaum
H 指数:82论文数:500被引数:2.7万
S
Swaroop Aradhya
H 指数:44论文数:182被引数:1.2万
L
Laure Frésard
H 指数:35论文数:92被引数:1.3万
B
Britt Johnson
H 指数:21论文数:114被引数:1,682
F
Flavia M. Facio
H 指数:18论文数:67被引数:1,916
J
Jason Reuter
H 指数:11论文数:35被引数:2,769
A
Alexandre Colavin
H 指数:13论文数:46被引数:2,006
S
Scott Topper
H 指数:22论文数:52被引数:3,999
K
Karen Ouyang
H 指数:10论文数:49被引数:903