Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maura R Z Ruzhnikov"'
Autor:
Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. Methods The FOXG1 syndrome online patient registry
Externí odkaz:
https://doaj.org/article/3b64a88bf2e4498fa667eb61c8835c14
Autor:
Stephanie I. W. van de Stadt, Petra A. W. Mooyer, Inge M. E. Dijkstra, Conny J. M. Dekker, Divya Vats, Moin Vera, Maura R. Z. Ruzhnikov, Keith van Haren, Nelson Tang, Klaas Koop, Michel A. Willemsen, Joannie Hui, Frédéric M. Vaz, Merel S. Ebberink, Marc Engelen, Stephan Kemp, Sacha Ferdinandusse
Publikováno v:
Genes, Vol 12, Iss 12, p 1930 (2021)
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibro
Externí odkaz:
https://doaj.org/article/157aed7663c2431a83002773105448ce
Autor:
Sneha D. Goenka, John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner D. Jensen, Jean Monlong, Pi-Chuan Chang, Gunjan Baid, Jonathan A. Bernstein, Jeffrey W. Christle, Karen P. Dalton, Daniel R. Garalde, Megan E. Grove, Joseph Guillory, Alexey Kolesnikov, Maria Nattestad, Maura R. Z. Ruzhnikov, Mehrzad Samadi, Ankit Sethia, Elizabeth Spiteri, Christopher J. Wright, Katherine Xiong, Tong Zhu, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley
Publikováno v:
Nature Biotechnology. 40:1035-1041
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nano
Autor:
Shehrazade Dahimene, Leonie von Elsner, Tess Holling, Lauren S Mattas, Jess Pickard, Davor Lessel, Kjara S Pilch, Ivan Kadurin, Wendy S Pratt, Igor B Zhulin, Hongzheng Dai, Maja Hempel, Maura R Z Ruzhnikov, Kerstin Kutsche, Annette C Dolphin
Publikováno v:
Brain. 145:2721-2729
Voltage-gated calcium (CaV) channels form three subfamilies (CaV1–3). The CaV1 and CaV2 channels are heteromeric, consisting of an α1 pore-forming subunit, associated with auxiliary CaVβ and α2δ subunits. The α2δ subunits are encoded in mamma
Autor:
Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen
Publikováno v:
Journal of medical genetics. 59(7)
Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expa