Results 271 to 280 of about 1,041,152 (399)

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA [PDF]

, 2012
Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash P. Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick   +32 more
openalex   +1 more source

m6A‐mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly

Autism Research, EarlyView.
ABSTRACT Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD‐DM) seen at three years of age is associated with co‐occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD‐DM have yet to be delineated. In this study, we identified additional ASD‐DM candidate genes
Sierra S. Nishizaki, Nicholas K. Haghani, Gabriana N. La, Natasha Ann F. Mariano, José M. Uribe‐Salazar, Gulhan Kaya, Melissa Regester, Derek Sayre Andrews, Christine Wu Nordahl, David G. Amaral, Megan Y. Dennis   +10 more
wiley   +1 more source

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

Human Mutation, Volume 43, Issue 12, Page 2170-2186, December 2022., 2022
Abstract The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific.
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau   +14 more
wiley   +1 more source

Clinical Exome Sequencing in Pediatric Patients. [PDF]

Cureus
Görükmez O, Görükmez Ö, Topak A, Arsoy HA.   +3 more
europepmc   +1 more source

Tumor diversity and evolution revealed through RADseq [PDF]

, 2017
Altshuler, Beal, Begum, Blaxter, Bos, Broaddus, Burdett, Butte, Caccamo, Cai, Caldas, Choy, Cresko, Cresko, Cuppen, da Silveira, De, DePristo, Durbin, Felsenstein, Gatenby, Getz, Goldberg, Greaves, Hoekstra, Hohenlohe, Hynes, Iacobuzio-Donahue, Johnson, Johnson, Katzen, Kawakami, Kernytsky, Kramer, Leder, Look, Lupski, Magi, Maley, Martincorena, Mesirov, Miller, Mullins, Nowak, Nowak, Nowak, Nowell, Parmigiani, Pawlik, Polyak, Polyak, Postlethwait, Pyeritz, Quake, Raible, Scholl, Schultz, Somers, Swanton, Townsend, Vogelstein, Weinberg, Weir, Westerfield, Yaeger, Zon, Zon   +66 more
core   +2 more sources

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing [PDF]

, 2012
Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch   +27 more
openalex   +1 more source

Exome sequencing: value is in the eye of the beholder [PDF]

Genetics in Medicine, 2020
Scott D. Grosse, Sonja A. Rasmussen
openaire   +3 more sources

Low RYR2 Level Relates to Poor Prognosis of Patients With Lung Adenocarcinoma by Promoting Tumor Cell Proliferation and Inhibiting Immune Cell Infiltration

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Ryanodine receptor type 2 (RYR2) is a large calcium channel that has been identified as one of the most frequently mutated genes in lung adenocarcinoma (LUAD). Despite its potential significance, the role of RYR2 in LUAD remains poorly understood.
Tao Wang, Baozhen Wang, Zhongting Lu, Tao Li   +3 more
wiley   +1 more source

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022
Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham   +24 more
wiley   +1 more source

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]

, 2017
Andrews, Marisa V, et al,, Grange, Dorothy K   +2 more
core   +2 more sources