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JOURNAL ARTICLE
Cassandra Muller, Lyndon Gallacher, Louise Keogh, Aideen McInerney-Leo, Tiffany Boughtwood, Penny Gleeson, Kristine Barlow-Stewart, Martin B Delatycki, Ingrid Winship, Kristen J Nowak, Margaret Otlowski, Paul Lacaze, Jane Tiller
Genetic testing can provide valuable information to mitigate personal disease risk, but the use of genetic results in life insurance underwriting is known to deter many consumers from pursuing genetic testing. In 2019, following Australian Federal Parliamentary Inquiry recommendations, the Financial Services Council (FSC) introduced an industry-led partial moratorium, prohibiting life insurance companies from using genetic test results for policies up to $AUD500,000. We used semi-structured interviews to explore genetic test consumers' experiences and views about the FSC moratorium and the use of genetic results by life insurers...
April 19, 2024: European Journal of Human Genetics: EJHG
#2
COMMENT
Álvaro Mendes, Ainsley J Newson
No abstract text is available yet for this article.
April 16, 2024: European Journal of Human Genetics: EJHG
#3
JOURNAL ARTICLE
Yunlu Zhu, Yun Bai, Wannian Yan, Ming Li, Fei Wu, Mingyuan Xu, Nanhui Wu, HongSong Ge, Yeqiang Liu
Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles and dorsal aspect of hands or feet. The causative gene for AKE remains unidentified. This study aims to identify the causative gene of AKE and explore the underlying biological mechanisms. A large, three-generation Chinese family exhibiting classic AKE symptoms was identified. A genome-wide linkage analysis and whole-exome sequencing were employed to determine the causative gene...
April 16, 2024: European Journal of Human Genetics: EJHG
#4
JOURNAL ARTICLE
Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg
Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective multi-centre case-note review identified 28 patients with a pathogenic SMAD4 variant from 13 families across all Scottish Clinical Genetics Centres. This provided a complete clinical picture of the Scottish JP-HHT cohort. Colonic polyps were identified in 87% (23/28) and gastric polyps in 67% (12/18) of screened patients. Complication rates were high: 43% (10/23) of patients with polyps required a colectomy and 42% (5/12) required a gastrectomy...
April 16, 2024: European Journal of Human Genetics: EJHG
#5
JOURNAL ARTICLE
Ruth Horn, Jennifer Merchant
No abstract text is available yet for this article.
April 16, 2024: European Journal of Human Genetics: EJHG
#6
JOURNAL ARTICLE
Niels Vos, Lotte Kleinendorst, Liselot van der Laan, Jorrit van Uhm, Philip R Jansen, Agnies M van Eeghen, Saskia M Maas, Marcel M A M Mannens, Mieke M van Haelst
The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia, obesity, macrocephaly and psychiatric problems. Cases with 16p11.2 duplication syndrome have similar neurodevelopmental problems, but typically show a partial 'mirror phenotype' with underweight and microcephaly. Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the 'typical' 16p11.2 BP4-BP5 (29.6-30.2 Mb; ~600 kb) deletions and duplications, but there are also several published cohorts with more distal 16p11...
April 11, 2024: European Journal of Human Genetics: EJHG
#7
JOURNAL ARTICLE
Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P Patel, Paul Griffin, Steven Muller, Siobhan B Carr, Michael R Loebinger, Jane S Lucas, Anand Shah, Ricardo Jose, Hannah M Mitchison, Amelia Shoemark, Danny E Miller, Deborah J Morris-Rosendahl
Primary ciliary dyskinesia (PCD), a disorder of the motile cilia, is now recognised as an underdiagnosed cause of bronchiectasis. Accurate PCD diagnosis comprises clinical assessment, analysis of cilia and the identification of biallelic variants in one of 50 known PCD-related genes, including HYDIN. HYDIN-related PCD is underdiagnosed due to the presence of a pseudogene, HYDIN2, with 98% sequence homology to HYDIN. This presents a significant challenge for Short-Read Next Generation Sequencing (SR-NGS) and analysis, and many diagnostic PCD gene panels do not include HYDIN...
April 11, 2024: European Journal of Human Genetics: EJHG
#8
JOURNAL ARTICLE
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Copy number variants (CNVs) represent the genetic cause of about 15-20% of neurodevelopmental disorders (NDDs). We identified a ~67 kb de novo intragenic deletion on chromosome 2q22.3 in a female individual showing a developmental encephalopathy characterised by epilepsy, severe intellectual disability, speech delay, microcephaly, and thin corpus callosum with facial dysmorphisms. The microdeletion involved exons 5-6 of GTDC1, encoding a putative glycosyltransferase, whose expression is particularly enriched in the nervous system...
April 11, 2024: European Journal of Human Genetics: EJHG
#9
JOURNAL ARTICLE
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E Flanagan
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known HI genes does not identify a disease-causing variant. Large deletions have previously been used to identify novel regulatory regions causing HI. Here, we used genome sequencing to search for novel large (>1 Mb) deletions in 180 probands with HI of unknown cause and replicated our findings in a large cohort of 883 genetically unsolved individuals with HI using off-target copy number variant calling from targeted gene panels...
April 11, 2024: European Journal of Human Genetics: EJHG
#10
JOURNAL ARTICLE
Natalia Balinova, Georgi Hudjašov, Vasili Pankratov, Erwan Pennarun, Maere Reidla, Ene Metspalu, Valery Batyrov, Irina Khomyakova, Tuuli Reisberg, Jüri Parik, Murat Dzhaubermezov, Elena Aiyzhy, Altana Balinova, Galina El'chinova, Nailya Spitsyna, Elza Khusnutdinova, Mait Metspalu, Kristiina Tambets, Richard Villems, Alena Kushniarevich
The Oirats are a group of Mongolian-speaking peoples residing in Russia, China, and Mongolia, who speak Oirat dialects of the Mongolian language. Migrations of nomadic ethnopolitical formations of the Oirats across the Eurasian Steppe during the Late Middle Ages/early Modern times resulted in a wide geographic spread of Oirat ethnic groups from present-day northwestern China in East Asia to the Lower Volga region in Eastern Europe. In this study, we generate new genome-wide and mitochondrial DNA data for present-day Oirat-speaking populations from Kalmykia in Eastern Europe, Western Mongolia, and the Xinjiang region of China, as well as Issyk-Kul Sart-Kalmaks from Central Asia, and historically related ethnic groups from Altai, Tuva, and Northern Mongolia to study the genetic structure and history of the Oirats...
April 11, 2024: European Journal of Human Genetics: EJHG
#11
JOURNAL ARTICLE
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, Dhiren Gupta, Arun Soni, Renu Saxena, Sunita Bijarnia-Mahay, Ishwar Chander Verma, Ratna Dua Puri
Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of pediatric patients with a suspected genetic disorder requiring critical care. The study was conducted at a single tertiary hospital in Northern India. We analyzed 70 children with an illness requiring intensive care and obtained a precise molecular diagnosis in 32 of 70 probands (45...
April 11, 2024: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Lisanne E N Manson, Marga Nijenhuis, Bianca Soree, Nienke J de Boer-Veger, Anne-Marie Buunk, Elisa J F Houwink, Arne Risselada, Gerard A P J M Rongen, Ron H N van Schaik, Jesse J Swen, Daan J Touw, Roos van Westrhenen, Vera H M Deneer, Henk-Jan Guchelaar
By developing evidence-based pharmacogenetics guidelines to optimize pharmacotherapy, the Dutch Pharmacogenetics Working Group (DPWG) aims to advance the implementation of pharmacogenetics (PGx). This guideline outlines the gene-drug interaction of CYP2C9 and HLA-B with phenytoin, HLA-A and HLA-B with carbamazepine and HLA-B with oxcarbazepine and lamotrigine. A systematic review was performed and pharmacotherapeutic recommendations were developed. For CYP2C9 intermediate and poor metabolisers, the DPWG recommends lowering the daily dose of phenytoin and adjust based on effect and serum concentration after 7-10 days...
April 3, 2024: European Journal of Human Genetics: EJHG
#13
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, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne-Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Levy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
No abstract text is available yet for this article.
April 3, 2024: European Journal of Human Genetics: EJHG
#14
JOURNAL ARTICLE
Carolyn M Brown, Laura M Amendola, Anjana Chandrasekhar, R Tanner Hagelstrom, Gillian Halter, Akanchha Kesari, Erin Thorpe, Denise L Perry, Ryan J Taft, Alison J Coffey
Currently, there are no widely accepted recommendations in the genomics field guiding the return of incidental findings (IFs), defined here as unexpected results that are unrelated to the indication for testing. Consequently, reporting policies for IFs among laboratories offering genomic testing are variable and may lack transparency. Herein we describe a framework developed to guide the evaluation and return of IFs encountered in probands undergoing clinical genome sequencing (cGS). The framework prioritizes clinical significance and actionability of IFs and follows a stepwise approach with stopping points at which IFs may be recommended for return or not...
April 2, 2024: European Journal of Human Genetics: EJHG
#15
JOURNAL ARTICLE
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik S Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
Nine out of 19 genes encoding GABAA receptor subunits have been linked to monogenic syndromes characterized by seizures and developmental disorders. Previously, we reported the de novo variant p.(Thr300Ile) in GABRA4 in a patient with epilepsy and neurodevelopmental abnormalities. However, no new cases have been reported since then. Through an international collaboration, we collected molecular and phenotype data of individuals carrying de novo variants in GABRA4. Patients and their parents were investigated either by exome or genome sequencing, followed by targeted Sanger sequencing in some cases...
April 2, 2024: European Journal of Human Genetics: EJHG
#16
REVIEW
Tracy Boakye Serebour, Adam P Cribbs, Mathew J Baldwin, Collen Masimirembwa, Zedias Chikwambi, Angeliki Kerasidou, Sarah J B Snelling
The advent of single-cell resolution sequencing and spatial transcriptomics has enabled the delivery of cellular and molecular atlases of tissues and organs, providing new insights into tissue health and disease. However, if the full potential of these technologies is to be equitably realised, ancestrally inclusivity is paramount. Such a goal requires greater inclusion of both researchers and donors in low- and middle-income countries (LMICs). In this perspective, we describe the current landscape of ancestral inclusivity in genomic and single-cell transcriptomic studies...
April 2, 2024: European Journal of Human Genetics: EJHG
#17
JOURNAL ARTICLE
Xuechen Tang, Nadine J Ortner, Yuliia V Nikonishyna, Monica L Fernández-Quintero, Janik Kokot, Jörg Striessnig, Klaus R Liedl
Voltage-gated L-type Cav1.3 Ca2+ channels support numerous physiological functions including neuronal excitability, sinoatrial node pacemaking, hearing, and hormone secretion. De novo missense mutations in the gene of their pore-forming α1-subunit (CACNA1D) induce severe gating defects which lead to autism spectrum disorder and a more severe neurological disorder with and without endocrine symptoms. The number of CACNA1D variants reported is constantly rising, but their pathogenic potential often remains unclear, which complicates clinical decision-making...
March 29, 2024: European Journal of Human Genetics: EJHG
#18
JOURNAL ARTICLE
Ajoy Oommen John, Ashish Singh, Pratibha Yadav, Anjana Joel, Divya Bala Thumaty, K Fibi Ninan, Josh Thomas Georgy, Anish Jacob Cherian, Shawn Thomas, Anitha Thomas, Vinotha Thomas, Abraham Peedicayil, Deny Varghese, R Parthiban, Lavanya Ravichandran, Jabasteen Johnson, Nihal Thomas, Bijesh Yadav, S Patricia, B Selvamani, Deepak Abraham, M J Paul, Raju Titus Chacko, Aaron Chapla
Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers. We also aimed to identify population specific BRCA1/2 mutation hotspots, to enable the development of more affordable testing strategies...
March 28, 2024: European Journal of Human Genetics: EJHG
#19
JOURNAL ARTICLE
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tumer, Maria Cristina Digilio, Manuela Priolo, Marco Tartaglia
Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements of the lysine-specific methyltransferase 2D (KMT2D) gene. While it is often recognizable due to a distinctive gestalt, the disorder is clinically variable, and a phenotypic scoring system has been introduced to help clinicians to reach a clinical diagnosis. The phenotype, however, can be less pronounced in some patients, including those carrying postzygotic mutations...
March 25, 2024: European Journal of Human Genetics: EJHG
#20
JOURNAL ARTICLE
Naz Guleray Lafci, Mark van Goor, Semra Cetinkaya, Jenny van der Wijst, Melisa Acun, Fatma Kurt Colak, Arda Cetinkaya, Joost Hoenderop
Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with idiopathic hypercalciuria. The proband additionally exhibited severe skeletal deformities and hyperparathyroidism...
March 25, 2024: European Journal of Human Genetics: EJHG
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