Search Results - "European journal of human genetics : EJHG"

Clinical exome sequencing: results from 2819 samples reflecting 1000 families by Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian Er, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo Del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami

“…We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information…”
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The FAIR guiding principles for data stewardship: fair enough? by Boeckhout, Martin, Zielhuis, Gerhard A, Bredenoord, Annelien L

“…The FAIR guiding principles for research data stewardship (findability, accessibility, interoperability, and reusability) look set to become a cornerstone of…”
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Circulating cell-free nucleic acids: characteristics and applications by Pös, Ondrej, Biró, Orsolya, Szemes, Tomas, Nagy, Bálint

“…Liquid biopsy is becoming a very popular sample obtaining procedure, replacing the invasive sampling methods for the diagnostic protocols. The advantages of…”
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening by Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W, Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S, Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C, Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G, Cornel, Martina C

“…This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal…”
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Bardet-Biedl syndrome by Forsythe, Elizabeth, Beales, Philip L

“…Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction,…”
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Recommendations for whole genome sequencing in diagnostics for rare diseases by Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M

“…In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation…”
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Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe by Petrović, Jelena, Pešić, Vesna, Lauschke, Volker M

“…CYP2C19 and CYP2D6 are important drug-metabolizing enzymes that are involved in the metabolism of around 30% of all medications. Importantly, the corresponding…”
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European guidelines for constitutional cytogenomic analysis by Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, Hastings, Ros

“…With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation…”
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Disease gene identification strategies for exome sequencing by GILISSEN, Christian, HOISCHEN, Alexander, BRUNNER, Han G, VELTMAN, Joris A

“…Next generation sequencing can be used to search for Mendelian disease genes in an unbiased manner by sequencing the entire protein-coding sequence, known as…”
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Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders by Dillon, Oliver James, Lunke, Sebastian, Stark, Zornitza, Yeung, Alison, Thorne, Natalie, Gaff, Clara, White, Susan M, Tan, Tiong Yang

“…As test costs decline, whole-exome sequencing (WES) has become increasingly used for clinical diagnosis, and now represents the primary alternative to gene…”
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data by Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E L M, de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi

“…Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required…”
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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms by Damaj, Lena, Lupien-Meilleur, Alexis, Lortie, Anne, Riou, Émilie, Ospina, Luis H, Gagnon, Louise, Vanasse, Catherine, Rossignol, Elsa

“…CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive…”
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment by Haer-Wigman, Lonneke, van Zelst-Stams, Wendy Ag, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline Cw, Verheij, Joke Bgm, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel Jf, Kievit, Anneke J, Verhoeven, Virginie Jm, Pott, Jan Wr, Sallevelt, Suzanne Ceh, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans Pm, Hoefsloot, Lies, Yntema, Helger G

“…Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed…”
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Stepwise ABC system for classification of any type of genetic variant by Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T

“…The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) system for variant classification is score based…”
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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database by Nguengang Wakap, Stéphanie, Lambert, Deborah M, Olry, Annie, Rodwell, Charlotte, Gueydan, Charlotte, Lanneau, Valérie, Murphy, Daniel, Le Cam, Yann, Rath, Ana

“…Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used…”
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Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process by Mascalzoni, Deborah, Melotti, Roberto, Pattaro, Cristian, Pramstaller, Peter Paul, Gögele, Martin, De Grandi, Alessandro, Biasiotto, Roberta

“…The Cooperative Health Research in South Tyrol (CHRIS) is a longitudinal study in Northern Italy, using dynamic consent since its inception in 2011. The CHRIS…”
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The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic

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Genomic inflation factors under polygenic inheritance by JIAN YANG, WEEDON, Michael N, MÄGI, Reedik, MADDEN, Pamela A, HEATH, Andrew C, NYHOLT, Dale R, MARTIN, Nicholas G, MONTGOMERY, Grant W, FRAYLING, Timothy M, HIRSCHHORN, Joel N, MCCARTHY, Mark I, GODDARD, Michael E, PURCELL, Shaun, VISSCHER, Peter M, LETTRE, Guillaume, ESTRADA, Karol, WILLER, Cristen J, SMITH, Albert V, INGELSSON, Erik, O'CONNELL, Jeffrey R, MANGINO, Massimo

“…Population structure, including population stratification and cryptic relatedness, can cause spurious associations in genome-wide association studies (GWAS)…”
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Sex-specific genetic effects across biomarkers by Flynn, Emily, Tanigawa, Yosuke, Rodriguez, Fatima, Altman, Russ B, Sinnott-Armstrong, Nasa, Rivas, Manuel A

“…Sex differences have been shown in laboratory biomarkers; however, the extent to which this is due to genetics is unknown. In this study, we infer sex-specific…”
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy by Fehr, Stephanie, Wilson, Meredith, Downs, Jenny, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John

“…The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres…”
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