Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18 by Ting Chen, Haiying Wu, Chenxi Zhang, Jiarong Feng, Linqi Chen, Rongrong Xie, Fengyun Wang, Xiuli Chen, Huiting Zhou, Hui Sun, Fei Xiao

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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder by Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline

“…The evaluation included a clinical genetics consultation, screening for fragile X syndrome, metabolic workup, chromosomal microarray analysis, and, in a proportion of patients, next-generation sequencing of genes reported in ASD and other neurodevelopmental disorders. …”
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Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system by Ilanna Fragoso Peixoto Gazzaneo, Camila Maia Costa de Queiroz, Larissa Clara Vieira Goes, Victor José Correia Lessa, Reinaldo Luna de Omena Filho, Diogo Lucas Lima do Nascimento, Reginaldo José Petroli, Susane Vasconcelos Zanotti, Isabella Lopes Monlleó

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A proposal for clinical genetics (genetics in medicine) education for medical technologists and other health professionals in Japan by Hidestugu eKohzaki

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 by Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

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Clinical genetic description and analysis of the case of chromosomal mosaicism mos47,XY,+8/46,XY by s L. Nersesyan, O. I. Ritenkova, A. N. Volkov

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Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing by Clare Brookes, Stella Lai, Elaine Doherty, Donald R. Love

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Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience by Evelina Miele, Angela Di Giannatale, Alessandro Crocoli, Raffaele Cozza, Annalisa Serra, Aurora Castellano, Antonella Cacchione, Maria Giuseppina Cefalo, Rita Alaggio, Maria Debora De Pasquale

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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study by Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz

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Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations by Eduardo Salas, Maria Farm, Sara Pich, Liselotte Onelöv, Kevin Guillen, Israel Ortega, Jovan P. Antovic, Jose Manuel Soria

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Clinical, genetic and pharmacological data support targeting the MEK5/ERK5 module in lung cancer by Adrián Sánchez-Fdez, María Florencia Re-Louhau, Pablo Rodríguez-Núñez, Dolores Ludeña, Sofía Matilla-Almazán, Atanasio Pandiella, Azucena Esparís-Ogando

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The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory by Young-Kyu Min, Kyung-Sun Park

“…The advantages of NGS, such as high-throughput sequencing capacity and massively parallel sequencing, have a significant impact on realization of genetic profiling in clinical genetic laboratories. These changes have enabled clinicians to execute precision medicine in diagnosis, prognosis, and treatment for patients. …”
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Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing by Clare Brookes, Stella Lai, Elaine Doherty, Donald R. Love

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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people by Joanne Luke, Philippa Dalach, Lindsay Tuer, Ravi Savarirayan, Angeline Ferdinand, Julie McGaughran, Emma Kowal, Libby Massey, Gail Garvey, Hugh Dawkins, Misty Jenkins, Yin Paradies, Glenn Pearson, Chloe A. Stutterd, Gareth Baynam, Margaret Kelaher

“…Here, authors show that there are disparities in access to clinical genetic health services for Aboriginal and/or Torres Strait Islander people in Australia.…”
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Early Origins of Psoriatic Arthritis: Clinical, Genetic and Molecular Biomarkers of Progression From Psoriasis to Psoriatic Arthritis by Stephen R. Pennington, Oliver FitzGerald

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A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis by José Manuel Soria, Sergi Mojal, Angel Martinez-Perez, Francisco René Acosta, Sonia López, Sara Miqueleiz, Diana Rodriguez, Maria Angeles Quijada, Antonio Cardenas, Francisco Vidal, Angel Remacha, Rosa Maria Antonijoan, Juan Carlos Souto

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A single‐center SCN8A‐related epilepsy cohort: clinical, genetic, and physiologic characterization by Tariq Zaman, Ahmad Abou Tayoun, Ethan M. Goldberg

“…Interpretation We present a comprehensive single‐center dataset for SCN8A epilepsy that includes clinical, genetic, electrophysiologic, and pharmacologic data. …”
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P505: Sleeping giant: Underrecognized clinical genetics programs across the vast Veterans Affairs (VA) Network by Tanya Eble, Benjamin Morris, Christopher Lee, Leigh Anne Flore, Natasha Frank, Jane Peredo, Lael Hinds, Robert Pinter, Maren Scheuner, Shweta Dhar

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A framework for the evaluation of patients with congenital facial weakness by Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin W. Jabs

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Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia by Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin

Subjects: “…Clinical genetics…”
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