Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Keith Nykamp"'
Autor:
Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wi
Externí odkaz:
https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the CXCR4 gene that typically results in truncation of the carboxyl terminus of
Externí odkaz:
https://doaj.org/article/33a4399d5701453fb24be25e56262870
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
David Stafford, Jason Reuter, Samskruthi Padigepati, Flavia Facio, Michael Korn, Britt Johnson, Keith Nykamp
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100955- (2024)
Externí odkaz:
https://doaj.org/article/ce05c00666454f8e89cbd4e1bb7a8578
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100953- (2024)
Externí odkaz:
https://doaj.org/article/9e7f1f1b5de24c6c91b0d740288810a0
Autor:
Toby Manders, Yuya Kobayashi, Alex Wahl, Baxter Eaves, Flavia Facio, Michael Korn, Britt Johnson, Keith Nykamp
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101061- (2024)
Externí odkaz:
https://doaj.org/article/f0e2aaa3e86049cbbb36d8cd34abfd5d
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101589- (2024)
Externí odkaz:
https://doaj.org/article/02f257a80761498680b028f9558e8355
Autor:
Toby Manders, Yuya Kobayashi, John Nicoludis, Arun Numpally, Flavia Facio, Britt Johnson, Keith Nykamp, Robert Nussbaum, Alex Colavin
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100272- (2023)
Externí odkaz:
https://doaj.org/article/4747b91d097d4f509aaa3376e94afa05
Autor:
Jason Reuter, Yuya Kobayashi, Flavia Facio, Swaroop Aradhya, Britt Johnson, Alex Colavin, Keith Nykamp
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100305- (2023)
Externí odkaz:
https://doaj.org/article/94d427bd8f7249cd851025a1b06f8833
Autor:
Britt Johnson, Ana Morales, Flavia Facio, Laure Fresard, Dianalee McKnight, Yuya Kobayashi, Jason Reuter, Keith Nykamp, Swaroop Aradhya, Alexandre Colavin
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100537- (2023)
Externí odkaz:
https://doaj.org/article/d196dce84dae4adcbcf71f28bca953bb