Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Eric W, Klee"'
Autor:
Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Limi
Externí odkaz:
https://doaj.org/article/972503d913ba4e5d89b1ba27347069e3
Autor:
Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)
Abstract Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either t
Externí odkaz:
https://doaj.org/article/7c3188a7d01b477aa61d1fc1deab8a2f
Autor:
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/7330cbbda97649539c05138a79d450aa
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause
Externí odkaz:
https://doaj.org/article/379d322058a142068b8b67a35317dec9
Autor:
Matthew Scotch, Kimberly Lauer, Eric D. Wieben, Yesesri Cherukuri, Julie M. Cunningham, Eric W. Klee, Jonathan J. Harrington, Julie S. Lau, Samantha J. McDonough, Mark Mutawe, John C. O'Horo, Chad E. Rentmeester, Nicole R. Schlicher, Valerie T. White, Susan K. Schneider, Peter T. Vedell, Xiong Wang, Joseph D. Yao, Bobbi S. Pritt, Andrew P. Norgan
Publikováno v:
mSphere, Vol 8, Iss 6 (2023)
ABSTRACTSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has had an unprecedented impact on human health and highlights the need for genomic epidemiology studies to increase our understanding of virus evolution and spread and to inform po
Externí odkaz:
https://doaj.org/article/8777d24714df47e7ade07b71b5f5db3e
Autor:
Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background The PI3K/AKT pathway, extensively studied in cancer, is vital for regulating cell metabolism, differentiation, and proliferation. Pathogenic variants in the PIK3R1 gene, which encodes three regulatory units of class IA PI3Ks, have
Externí odkaz:
https://doaj.org/article/2b2a2d0ea75b48b8b7e22a61fb5d289f
Autor:
Matheus V. M. B. Wilke, Eva Morava-Kozicz, Matthew J. Koster, Christopher T. Schmitz, Shannon Kaye Foster, Mrinal Patnaik, Kenneth J. Warrington, Eric W. Klee, Filippo Pinto e Vairo
Publikováno v:
BMC Rheumatology, Vol 6, Iss 1, Pp 1-6 (2022)
Abstract Background VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described syndrome caused by a somatic missense variant at the methionine-41 (p.(Met41)) position in the ubiquitin-like modifier acti
Externí odkaz:
https://doaj.org/article/de72d152939d4a2881d62c2b419acd4d
Autor:
Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye
Publikováno v:
iScience, Vol 26, Iss 6, Pp 106818- (2023)
Summary: Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More recently, dominant-n
Externí odkaz:
https://doaj.org/article/7f4ab43275244a35867407975b29332c
Autor:
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101825- (2023)
Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2. Observations: A healthy fath
Externí odkaz:
https://doaj.org/article/51567a3b645d46b79f683f7b6a11a12f