Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea

by Jun Hyeong Seo, Soo Young Jeong, Myeong Seon Kim, Jun Hyeok Kang, E Sun Paik, Yoo-Young Lee, Tae-Joong Kim, Jeong-Won Lee, Byoung-Gie Kim, Duk-Soo Bae, Chel Hun Choi
Published 2019-11-01

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

by Xiao Feng, Claudia Cozma, Supansa Pantoom, Christina Hund, Katharina Iwanov, Janine Petters, Christin Völkner, Claudia Bauer, Florian Vogel, Peter Bauer, Frank U. Weiss, Markus M. Lerch, Anne-Marie Knospe, Andreas Hermann, Moritz J. Frech, Jiankai Luo, Arndt Rolfs, Jan Lukas
Published 2019-10-01

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients

by Takahiko Koyama, Kahn Rhrissorrakrai, Laxmi Parida
Published 2019-02-01

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

by Cédric Van Marcke, Raphaël Helaers, Anne De Leener, Ahmad Merhi, Céline A. Schoonjans, Jérôme Ambroise, Christine Galant, Paul Delrée, Françoise Rothé, Isabelle Bar, Elsa Khoury, Pascal Brouillard, Jean-Luc Canon, Peter Vuylsteke, Jean-Pascal Machiels, Martine Berlière, Nisha Limaye, Miikka Vikkula, François P. Duhoux
Published 2020-04-01

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

by Stattin Eva-Lena, Boström Ida, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg Anna
Published 2012-10-01

Revisited analysis of a SHIVA01 trial cohort using functional mutational analyses successfully predicted treatment outcome

by Maud Kamal, Gabi Tarcic, Sylvain Dureau, Oded Edelheit, Zohar Barbash, Charlotte Lecerf, Claire Morel, Benjamin Miron, Celine Callens, Nicolas Servant, Ivan Bieche, Michael Vidne, Christophe Le Tourneau
Published 2018-05-01

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

by Estela Dámaso, Maribel González-Acosta, Gardenia Vargas-Parra, Matilde Navarro, Judith Balmaña, Teresa Ramon y Cajal, Noemí Tuset, Bryony A. Thompson, Fátima Marín, Anna Fernández, Carolina Gómez, Àngela Velasco, Ares Solanes, Sílvia Iglesias, Gisela Urgel, Consol López, Jesús del Valle, Olga Campos, Maria Santacana, Xavier Matias-Guiu, Conxi Lázaro, Laura Valle, Joan Brunet, Marta Pineda, Gabriel Capellá
Published 2020-07-01

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

by Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle, Sarah Louise Ariansen
Published 2019-05-01

An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants

by Satishkumar Ranganathan Ganakammal, Emil Alexov
Published 2020-09-01

5′ Region Large Genomic Rearrangements in the <em>BRCA1</em> Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakp...

by Sandrine M. Caputo, Dominique Telly, Adrien Briaux, Julie Sesen, Maurizio Ceppi, Françoise Bonnet, Violaine Bourdon, Florence Coulet, Laurent Castera, Capucine Delnatte, Agnès Hardouin, Sylvie Mazoyer, Inès Schultz, Nicolas Sevenet, Nancy Uhrhammer, Céline Bonnet, Anne-Françoise Tilkin-Mariamé, Claude Houdayer, Virginie Moncoutier, Catherine Andrieu, French COVAR Group Collaborators, Ivan Bièche, Marc-Henri Stern, Dominique Stoppa-Lyonnet, Rosette Lidereau, Christine Toulas, Etienne Rouleau
Published 2021-06-01

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

by Rebeca Silveira Grasel, Paula Silva Felicio, André Escremim de Paula, Natalia Campacci, Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Adriane Feijó Evangelista, Gabriela Carvalho Fernandes, Cristina da Silva Sabato, Pedro De Marchi, Pedro De Marchi, Cristiano de Pádua Souza, Cristiano de Pádua Souza, Cláudia Alessandra Andrade de Paula, Giovana Tardin Torrezan, Henrique de Campos Reis Galvão, Dirce Maria Carraro, Dirce Maria Carraro, Edenir Inêz Palmero, Edenir Inêz Palmero, Edenir Inêz Palmero, Edenir Inêz Palmero
Published 2020-10-01

Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age

by Lothar Hauth, Lothar Hauth, Jeroen Kerstens, Jeroen Kerstens, Laetitia Yperzeele, François Eyskens, Paul M. Parizel, Barbara Willekens, Barbara Willekens
Published 2018-05-01

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

by Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li
Published 2020-04-01

Resistance to Thyroid Hormone Beta: A Focused Review

by Theodora Pappa, Samuel Refetoff
Published 2021-03-01

Annotation of Human Exome Gene Variants with Consensus Pathogenicity

by Victor Jaravine, James Balmford, Patrick Metzger, Melanie Boerries, Harald Binder, Martin Böker
Published 2020-09-01

Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States

by Rachele M. Hendricks-Sturrup, Christine Y. Lu
Published 2019-02-01

Colchicine – an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants

by Tatjana Welzel, Anna L. Wildermuth, Norbert Deschner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner
Published 2021-09-01

Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients

by Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Rosa Maria Rodrigues Pereira
Published 2020-01-01

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

by Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, José M. Millán, Gema García-García
Published 2020-04-01

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

by Angelica D'Amore, Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Published 2018-12-01