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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-15 Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
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The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-15 Rebecca Kriukelis, Michael T. Gabbett, Rachael Beswick, Aideen M. McInerney-Leo, Carlie Driscoll, Karen Liddle
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A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-15 Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
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Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-14 Marije A. van der Geest, Els L. M. Maeckelberghe, Marielle E. van Gijn, Anneke M. Lucassen, Morris A. Swertz, Irene M. van Langen, Mirjam Plantinga
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Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-12 John Gásdal Karstensen, Thomas v. Overeem Hansen, Johan Burisch, Malene Djursby, Helle Højen, Majbritt Busk Madsen, Niels Jespersen, Anne Marie Jelsig
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Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-12 Xinhui Chen, Fan Zhang, Yihua Shi, Haotian Wang, Miao Chen, Dehao Yang, Lebo Wang, Peng Liu, Fei Xie, Jiawen Chen, Aisi Fu, Ben Hu, Bo Wang, Zhiyuan Ouyang, Sheng Wu, Zhiru Lin, Zhidong Cen, Wei Luo
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A second hotspot for pathogenic exon-skipping variants in CDC45 Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-11 Kelly Schoch, Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R. A. Hawarden, Vincenzo Salpietro, Valeria Capra, Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-11 Lea Urpa, Mitja I. Kurki, Elisa Rahikkala, Eija Hämäläinen, Veikko Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi Vieira, Johanna Uusimaa, Jukka S. Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J. Daly
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Optimizing genetic testing strategies for congenital anomalies in Iran Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-07 Daniel G. Calame
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Diagnostic elusiveness of pathogenic variants in cases of autosomal recessive diseases Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-06 Jörg Schmidtke, Sebastian Koch, Michael Krawczak
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Rethinking non-syndromic hearing loss and its mimics in the genomic era Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-06 Barbara Vona
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Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-04 Noam Hadar, Omri Porgador, Idan Cohen, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S. Birk
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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-05 Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer (HBOC) diagnostic testing with new treatments, testing methods and strategies, and evolving information on genetic associations. These best practice guidelines have been produced to assist clinical
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Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023 Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-04 Sophie Allen, Alice Garrett, Lara Muffley, Shawn Fayer, Julia Foreman, David J. Adams, Matthew Hurles, Alan F. Rubin, Frederick P. Roth, Lea M. Starita, Leslie G. Biesecker, Clare Turnbull
Clinical classification of genomic variants identified on sequencing is often challenging, with many variants classified as Variants of Uncertain Significance (VUS) on account of insufficient evidence. Advances in sequencing and gene synthesis has made feasible multiplexed assays of variant effect (MAVEs), which quantify the functional impact of many thousands of genomic variants in a single experiment
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Upstream open reading frame-introducing variants in patients with primary familial brain calcification Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-04 Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland, Jean-François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
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Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-03-04 Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A. Cumming, Darren G. Monckton, Maria A. Ramos-Arroyo
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Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-29 Amanda Massmann, Kurt D. Christensen, Joel Van Heukelom, April Schultz, Muhammad Hamza Saad Shaukat, Catherine Hajek, Max Weaver, Robert C. Green, Ann Chen Wu, Madison R. Hickingbotham, Emilie S. Zoltick, Adam Stys, Tomasz P. Stys
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-29 Claudio Peter D’Incal, Dale John Annear, Ellen Elinck, Jasper J. van der Smagt, Mariëlle Alders, Alexander J. M. Dingemans, Ligia Mateiu, Bert B. A. de Vries, Wim Vanden Berghe, R. Frank Kooy
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Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-27 Sebastian B. B. Bon, Roel H. P. Wouters, Jette J. Bakhuizen, Marjolijn C. J. Jongmans, Marry M. van den Heuvel-Eibrink, Martha A. Grootenhuis
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What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-20 Alan Ma, Rosie O’Shea, Laura Wedd, Claire Wong, Robyn V Jamieson, Nicole Rankin
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Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2 Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-19 Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-19 Nchangwi Syntia Munung, Karen Kengne Kamga, Marsha J Treadwell, Jemima Dennis-Antwi, Kofi A Anie, Daima Bukini, Julie Makani, Ambroise Wonkam
Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification
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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-19 Frederike L. Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D. M. Pena, Theodosia A. Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
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The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-15 Hristina Gaydarska, Kayo Takashima, Shibly Shahrier, Aviad Raz, Jusaku Minari
This study investigates changes in the social valuation of the human genome over the more than 30 years since the establishment of the Human Genome Project. It offers a descriptive sociological analysis of the three waves of this valuation, mainly by considering three key UNESCO declarations and a relevant report. These waves represent a shifting balance between collectivism and individualism, starting
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Thirty-year of genetic counselling education in Europe: a growing professional area Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-15 M. Paneque, R. O´Shea, A. Narravula, E. Siglen, A. Ciuca, A. Abulí, C. Serra-Juhé
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Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-15 Fiona E. McRonald, Joanna Pethick, Francesco Santaniello, Brian Shand, Adele Tyson, Oliver Tulloch, Shilpi Goel, Margreet Lüchtenborg, Gillian M. Borthwick, Clare Turnbull, Adam C. Shaw, Kevin J. Monahan, Ian M. Frayling, Steven Hardy, John Burn
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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-15 Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari-Tiri, Juliette PIARD, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi
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The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-14 Anna Öfverholm, Per Karlsson, Anna Rosén
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Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-13 Romain Nicolle, Lucile Boutaud, Laurence Loeuillet, Naima Talhi, Sarah Grotto, Nicolas Bourgon, Agnese Feresin, Aurélie Coussement, Mathilde Barrois, Marie-Paule Beaujard, Thomas Rambaud, Férechté Razavi, Tania Attié-Bitach
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Identification of the DNA methylation signature of Mowat-Wilson syndrome Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-13 Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A. Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Marco Tartaglia, Giovanni Battista Ferrero, Bekim
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Ethical and social reflections on the proposed European Health Data Space Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-14 Ciara Staunton, Mahsa Shabani, Deborah Mascalzoni, Signe Mežinska, Santa Slokenberga
The COVID-19 pandemic demonstrated the benefits of international data sharing. Data sharing enabled the health care policy makers to make decisions based on real-time data, it enabled the tracking of the virus, and importantly it enabled the development of vaccines that were crucial to mitigating the impact of the virus. This data sharing is not the norm as data sharing needs to navigate complex ethical
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Overcoming barriers to equitable genomic healthcare Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-13 Katta M. Girisha
We all recognize the pivotal role of next-generation sequencing in the diagnosis and discovery of rare diseases that are majorly genetic in origin. While limited access might be the result of economic constraints in the three-fourths of the global population, it might also be due to infrastructure (genetic testing laboratories) or trained manpower (genome analysts) in other situations. In this issue
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Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-06 Angela Pearce, Lucas A. Mitchell, Stephanie Best, Mary-Anne Young, Bronwyn Terrill
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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-05 Mahmoud Koko, Maha A. Elseed, Inaam N. Mohammed, Ahlam A. Hamed, Amal S. I. Abd Allah, Ashraf Yahia, Rayan A. Siddig, Janine Altmüller, Mohammad Reza Toliat, Esra O. Elmahdi, Mutaz Amin, Elhami A. Ahmed, Isra Z. M. Eltazi, Fatima A. Elmugadam, Wasma A. Abdelgadir, Esraa Eltaraifee, Mohamed O. M. Ibrahim, Nabila M. H. Ali, Hiba M. Malik, Arwa M. Babai, Yousuf H. Bakhit, Peter Nürnberg, Muntaser E. Ibrahim
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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-05 Marivi V. Cascajo-Almenara, Natalia. Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M. Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria del Mar O´Callaghan, Abraham J. Paredes-Fuentes, Pedro J. Moreno-Lozano, Jordi Muchart, Andres Nascimento, Carlos I. Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R. Fortuna, Deepa S. Rajan, Plácido Navas, Leonardo Salviati
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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-02 Jihoon G. Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
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The value of genomic testing in severe childhood speech disorders Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-02 Yan Meng, Stephanie Best, David J. Amor, Ruth Braden, Angela T. Morgan, Ilias Goranitis
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Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-02-02 Charlotta Nääs, Jenny von Salomé, Anna Rosén
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Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-29 James Whitworth, Ruth Armstrong, Eamonn R. Maher
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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-29 Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J. M. Dingemans, Nael Nadif Khadri, Susana Boronat, Salvador Ibañez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis A. Pérez-Jurado, Gemma Aznar Lain, Juan Dario Ortigoza-Escobar, Bert B. A. de Vries, David A. Koolen, Rosanna Weksberg
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Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-26 Parisa Vaseghi, Laleh Habibi, Julie A. Neidich, Yang Cao, Neda Fattahi, Ramin Rashidi-Nezhad, Tayebeh Salehnezhad, Hossein Dalili, Fatemeh Rahimi Sharbaf, Mohammad Reza Zarkesh, Mahtash Malekian, Mahdieh Mokhberdezfuli, Amirhosein Mehrtash, Amin Ardeshirdavani, Roxana Kariminejad, Vafa Ghorbansabagh, Parvane Sadeghimoghadam, Amir Naddaf, Tahereh Esmaeilnia Shirvany, Ziba Mosayebi, Behrokh Sahebdel
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Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-26 Zoë Claesen-Bengtson, Hilary Bowman-Smart, Eline Vermeersch, Joris Robert Vermeesch, Lidewij Henneman, Pascal Borry
Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request
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Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-25 Amarens Hoogenboom, Farah A. Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M. van Haelst
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Exploring the similarity between genetic diseases improves their differential diagnosis and the understanding of their etiology Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-25 Giorgio Valentini
The article “LanDis: The Disease Landscape Explorer” by Horacio Caniza et al. ([1], in this issue) is an unvaluable tool to support geneticists in discovering and achieving new insights into the etiology of genetic diseases. LanDis also offers to clinicians an unprecedented opportunity to support the differential diagnosis of genetic diseases, offering an easy-to-use tool also for genetic researchers
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Identification of a DLG3 stop mutation in the MRX20 family Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-25 Jolien Huyghebaert, Ligia Mateiu, Ellen Elinck, Kirsten Esther Van Rossem, Bregje Christiaenssen, Claudio Peter D’Incal, Michael K. McCormack, Alice Lazzarini, Geert Vandeweyer, R. Frank Kooy
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Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-23 Lakmal Gonawala, Nalaka Wijekoon, Darshika Attanayake, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Ajantha Keshavaraj, Chandra Mohan, Harry W. M. Steinbusch, Eric P. Hoffman, Ashwin Dalal, K. Ranil D. de Silva
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Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-12 Zoe Fehlberg, Zornitza Stark, Stephanie Best
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Blood donor biobank as a resource in personalised biomedical genetic research Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-12 Jonna Clancy, Jarmo Ritari, Eevaleena Vaittinen, Mikko Arvas, Silja Tammi, Satu Koskela, Jukka Partanen
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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-10 Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B. Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
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Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-10 Sally N. Adebamowo, Adebowale Adeyemo, Amos Adebayo, Peter Achara, Bunmi Alabi, Rasheed A. Bakare, Ayotunde O. Famooto, Kayode Obende, Richard Offiong, Olayinka Olaniyan, Sanni Ologun, Charles Rotimi, Clement A. Adebamowo
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LanDis: the disease landscape explorer Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-10 Horacio Caniza, Juan J. Cáceres, Mateo Torres, Alberto Paccanaro
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Expanding the phenotype of copy number variations involving NR0B1 (DAX1) Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-10 Nathalie Veyt, Griet Van Buggenhout, Koen Devriendt, Kris Van Den Bogaert, Nathalie Brison
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Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-05 Constantin-Cristian Topriceanu, Nish Chaturvedi, Rohini Mathur, Victoria Garfield
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Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-04 Fedor S. Sharko, Eugenia S. Boulygina, Svetlana V. Tsygankova, Natalia V. Slobodova, Sergey M. Rastorguev, Anna A. Krasivskaya, Andrej B. Belinsky, Heinrich Härke, Anna A. Kadieva, Sergej V. Demidenko, Vladimir Yu. Malashev, Tatiana Yu. Shvedchikova, Maria V. Dobrovolskaya, Irina K. Reshetova, Dmitry S. Korobov, Artem V. Nedoluzhko
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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-04 Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A. Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2024-01-04 M. Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M. Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M. Jesús Zavala, Trinidad Hasbún, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay-Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban-Akdemir, Jennifer E. Posey, James
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De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2023-12-20 Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C. do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B. L. Yatheesha, Siddaramappa J. Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh
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Perception of genomic newborn screening among peripartum mothers Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2023-12-19 Bernarda Prosenc, Mojca Cizek Sajko, Gorazd Kavsek, Marusa Herzog, Borut Peterlin
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Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2023-12-15 Kimberly Christine Coetzer, Ekkehard Zöllner, Shahida Moosa
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Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension Eur. J. Hum. Genet. (IF 5.2) Pub Date : 2023-12-14 Alec W. R. Langlois, Jennie G. Pouget, Jo Knight, Meghan J. Chenoweth, Rachel F. Tyndale