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Correspondence
| Open AccessReply to Kratz et al.
- Thierry Frebourg
- , Svetlana Bajalica Lagercrantz
- , Carla Oliveira
- , Rita Magenheim
- , D. Gareth Evans
- , Nicoline Hoogerbrugge
- , Marjolijn Ligtenberg
- , Rianne Oostenbrink
- , Rolf Sijmons
- , Emma Woodward
- , Marc Tischkowitz
- , Eamonn Maher
- , Rosalie E. Ferner
- , Stefan Aretz
- , Isabel Spier
- , Verena Steinke-Lange
- , Elke Holinski-Feder
- , Evelin Schröck
- , Thierry Frebourg
- , Claude Houdayer
- , Chrystelle Colas
- , Pierre Wolkenstein
- , Vincent Bours
- , Eric Legius
- , Bruce Poppe
- , Kathleen Claes
- , Robin de Putter
- , Ignacio Blanco Guillermo
- , Gabriel Capella
- , Joan Brunet Vidal
- , Conxi Lázaro
- , Judith Balmaña
- , Hector Salvador Hernandez
- , Manuel Teixeira
- , Emma Tham
- , Lubinski Jan
- , Karolina Ertmanska
- , Bela Melegh
- , Mateja Krajc
- , Ana Blatnik
- , Sirkku Peltonen
- & Marja Hietala
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Correction |
Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study
- Daniel Moreno-Mendoza
- , Elena Casamonti
- , Donatella Paoli
- , Chiara Chianese
- , Antoni Riera-Escamilla
- , Claudia Giachini
- , Maria Grazia Fino
- , Francesca Cioppi
- , Francesco Lotti
- , Serena Vinci
- , Angela Magini
- , Elisabet Ars
- , Josvany Sanchez-Curbelo
- , Eduard Ruiz-Castane
- , Andrea Lenzi
- , Francesco Lombardo
- & Csilla Krausz
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Article
| Open AccessPerceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation
- Regina Müller
- , Ali A. Aghdassi
- , Judith Kruse
- , Markus M. Lerch
- , Peter Simon
- & Sabine Salloch
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Article |
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
- Christina Lissewski
- , Valérie Chune
- , Francesca Pantaleoni
- , Alessandro De Luca
- , Yline Capri
- , Julia Brinkmann
- , Francesca Lepri
- , Paola Daniele
- , Erika Leenders
- , Laura Mazzanti
- , Emanuela Scarano
- , Francesca Clementina Radio
- , Kerstin Kutsche
- , Alma Kuechler
- , Marion Gérard
- , Kara Ranguin
- , Marine Legendre
- , Yoann Vial
- , Ineke van der Burgt
- , Tuula Rinne
- , Elena Andreucci
- , Gioia Mastromoro
- , Maria Cristina Digilio
- , Hélène Cave
- , Marco Tartaglia
- & Martin Zenker
-
Article
| Open AccessPopulation prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
- Dinka Smajlagić
- , Ksenia Lavrichenko
- , Siren Berland
- , Øyvind Helgeland
- , Gun Peggy Knudsen
- , Marc Vaudel
- , Jan Haavik
- , Per Morten Knappskog
- , Pål Rasmus Njølstad
- , Gunnar Houge
- & Stefan Johansson
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Article
| Open AccessHow will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples
- Ivy van Dijke
- , Phillis Lakeman
- , Inge B. Mathijssen
- , Mariëtte Goddijn
- , Martina C. Cornel
- & Lidewij Henneman
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Article |
Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes
- Adriana Kater-Kuipers
- , Iris M. Bakkeren
- , Sam R. Riedijk
- , Attie T.J.I. Go
- , Marike G. Polak
- , Robert-Jan H. Galjaard
- , Inez D. de Beaufort
- & Eline M. Bunnik
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Article |
A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease
- Linhai Zhao
- , Zhihui Zhang
- , Sandra M. Barral Rodriguez
- , Badri N. Vardarajan
- , Alan E. Renton
- , Alison M. Goate
- , Richard Mayeux
- , Gao T. Wang
- & Suzanne M. Leal
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Article
| Open AccessDemographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands
- Reinder Broekstra
- , Judith Aris-Meijer
- , Els Maeckelberghe
- , Ronald Stolk
- & Sabine Otten
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Article
| Open AccessRare heterozygous GDF6 variants in patients with renal anomalies
- Helge Martens
- , Imke Hennies
- , Maike Getwan
- , Anne Christians
- , Anna-Carina Weiss
- , Frank Brand
- , Ann Christin Gjerstad
- , Arne Christians
- , Zoran Gucev
- , Robert Geffers
- , Tomáš Seeman
- , Andreas Kispert
- , Velibor Tasic
- , Anna Bjerre
- , Soeren S. Lienkamp
- , Dieter Haffner
- & Ruthild G. Weber
-
Article |
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
- Marion Aubert-Mucca
- , Julie Pernin-Grandjean
- , Sébastien Marchasson
- , Veronique Gaston
- , Christophe Habib
- , Isabelle Meunier
- , Sabine Sigaudy
- , Josseline Kaplan
- , Olivier Roche
- , Danièle Denis
- , Pierre Bitoun
- , Damien Haye
- , Alain Verloes
- , Patrick Calvas
- , Nicolas Chassaing
- & Julie Plaisancié
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Article |
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
- Kim Elsink
- , Manon M. H. Huibers
- , Iris H. I. M. Hollink
- , Lars T. van der Veken
- , Robert F. Ernst
- , Annet Simons
- , Evelien Zonneveld-Huijssoon
- , Annemieke H. van der Hout
- , Kristin M. Abbott
- , Alexander Hoischen
- , Marc Pieterse
- , Taco W. Kuijpers
- , Joris M. van Montfrans
- & Mariëlle E. van Gijn
-
Article |
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions
- Michael Erlichster
- , Justin Bedo
- , Efstratios Skafidas
- , Patrick Kwan
- , Adam Kowalczyk
- & Benjamin Goudey
-
Article |
Accurate fetal variant calling in the presence of maternal cell contamination
- Elena Nabieva
- , Satyarth Mishra Sharma
- , Yermek Kapushev
- , Sofya K. Garushyants
- , Anna V. Fedotova
- , Viktoria N. Moskalenko
- , Tatyana E. Serebrenikova
- , Eugene Glazyrina
- , Ilya V. Kanivets
- , Denis V. Pyankov
- , Tatyana V. Neretina
- , Maria D. Logacheva
- , Georgii A. Bazykin
- & Dmitry Yarotsky
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Article
| Open AccessContributions of de novo variants to systemic lupus erythematosus
- Jonas Carlsson Almlöf
- , Sara Nystedt
- , Aikaterini Mechtidou
- , Dag Leonard
- , Maija-Leena Eloranta
- , Giorgia Grosso
- , Christopher Sjöwall
- , Anders A. Bengtsson
- , Andreas Jönsen
- , Iva Gunnarsson
- , Elisabet Svenungsson
- , Lars Rönnblom
- , Johanna K. Sandling
- & Ann-Christine Syvänen
-
Article
| Open AccessDifferences in local population history at the finest level: the case of the Estonian population
- Vasili Pankratov
- , Francesco Montinaro
- , Alena Kushniarevich
- , Georgi Hudjashov
- , Flora Jay
- , Lauri Saag
- , Rodrigo Flores
- , Davide Marnetto
- , Marten Seppel
- , Mart Kals
- , Urmo Võsa
- , Cristian Taccioli
- , Märt Möls
- , Lili Milani
- , Anto Aasa
- , Daniel John Lawson
- , Tõnu Esko
- , Reedik Mägi
- , Luca Pagani
- , Andres Metspalu
- & Mait Metspalu
-
Viewpoint |
COVID-19 and Down’s syndrome: are we heading for a disaster?
- Rodolphe Dard
- , Nathalie Janel
- & François Vialard
-
Article
| Open AccessSecondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
- Elizabeth Ormondroyd
- , Andrew R. Harper
- , Kate L. Thomson
- , Michael P. Mackley
- , Jennifer Martin
- , Christopher J. Penkett
- , Silvia Salatino
- , Hannah Stark
- , Jonathan Stephens
- & Hugh Watkins
-
Article
| Open AccessCultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand
- Wibhu Kutanan
- , Rasmi Shoocongdej
- , Metawee Srikummool
- , Alexander Hübner
- , Thanatip Suttipai
- , Suparat Srithawong
- , Jatupol Kampuansai
- & Mark Stoneking
-
Article
| Open AccessACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
- Elisa Benetti
- , Rossella Tita
- , Ottavia Spiga
- , Andrea Ciolfi
- , Giovanni Birolo
- , Alessandro Bruselles
- , Gabriella Doddato
- , Annarita Giliberti
- , Caterina Marconi
- , Francesco Musacchia
- , Tommaso Pippucci
- , Annalaura Torella
- , Alfonso Trezza
- , Floriana Valentino
- , Margherita Baldassarri
- , Alfredo Brusco
- , Rosanna Asselta
- , Mirella Bruttini
- , Simone Furini
- , Marco Seri
- , Vincenzo Nigro
- , Giuseppe Matullo
- , Marco Tartaglia
- , Francesca Mari
- , Elisa Frullanti
- , Chiara Fallerini
- , Sergio Daga
- , Susanna Croci
- , Sara Amitrano
- , Francesca Fava
- , Francesca Montagnani
- , Laura Di Sarno
- , Andrea Tommasi
- , Maria Palmieri
- , Arianna Emiliozzi
- , Massimiliano Fabbiani
- , Barbara Rossetti
- , Giacomo Zanelli
- , Laura Bergantini
- , Miriana D’Alessandro
- , Paolo Cameli
- , David Bennet
- , Federico Anedda
- , Simona Marcantonio
- , Sabino Scolletta
- , Federico Franchi
- , Maria Antonietta Mazzei
- , Edoardo Conticini
- , Luca Cantarini
- , Bruno Frediani
- , Danilo Tacconi
- , Marco Feri
- , Raffaele Scala
- , Genni Spargi
- , Marta Corridi
- , Cesira Nencioni
- , Gian Piero Caldarelli
- , Maurizio Spagnesi
- , Paolo Piacentini
- , Maria Bandini
- , Elena Desanctis
- , Anna Canaccini
- , Chiara Spertilli
- , Alice Donati
- , Luca Guidelli
- , Leonardo Croci
- , Agnese Verzuri
- , Valentina Anemoli
- , Agostino Ognibene
- , Massimo Vaghi
- , Antonella D’Arminio Monforte
- , Esther Merlini
- , Mario U. Mondelli
- , Stefania Mantovani
- , Serena Ludovisi
- , Massimo Girardis
- , Sophie Venturelli
- , Marco Sita
- , Andrea Cossarizza
- , Andrea Antinori
- , Alessandra Vergori
- , Stefano Rusconi
- , Matteo Siano
- , Arianna Gabrieli
- , Agostino Riva
- , Daniela Francisci
- , Elisabetta Schiaroli
- , Pier Giorgio Scotton
- , Francesca Andretta
- , Sandro Panese
- , Renzo Scaggiante
- , Saverio Giuseppe Parisi
- , Francesco Castelli
- , Maria Eugenia Quiros-Roldan
- , Paola Magro
- , Cristina Minardi
- , Deborah Castelli
- , Itala Polesini
- , Matteo Della Monica
- , Carmelo Piscopo
- , Mario Capasso
- , Roberta Russo
- , Immacolata Andolfo
- , Achille Iolascon
- , Massimo Carella
- , Marco Castori
- , Giuseppe Merla
- , Filippo Aucella
- , Pamela Raggi
- , Carmen Marciano
- , Rita Perna
- , Matteo Bassetti
- , Antonio Di Biagio
- , Maurizio Sanguinetti
- , Luca Masucci
- , Chiara Gabbi
- , Serafina Valente
- , Susanna Guerrini
- , Ilaria Meloni
- , Maria Antonietta Mencarelli
- , Caterina Lo Rizzo
- , Elena Bargagli
- , Marco Mandalà
- , Alessia Giorli
- , Lorenzo Salerni
- , Giuseppe Fiorentino
- , Patrizia Zucchi
- , Pierpaolo Parravicini
- , Elisabetta Menatti
- , Stefano Baratti
- , Tullio Trotta
- , Ferdinando Giannattasio
- , Gabriella Coiro
- , Fabio Lena
- , Domenico A. Coviello
- , Cristina Mussini
- , Alessandra Renieri
- & Anna Maria Pinto
-
Brief Communication |
Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring
- Erell Guillerm
- , Magali Svrcek
- , Armelle Bardier-Dupas
- , Noémie Basset
- , Florence Coulet
- & Chrystelle Colas
-
Article |
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
- Edwin P. Kirk
- , Royston Ong
- , Kirsten Boggs
- , Tristan Hardy
- , Sarah Righetti
- , Ben Kamien
- , Tony Roscioli
- , David J. Amor
- , Madhura Bakshi
- , Clara W. T. Chung
- , Alison Colley
- , Robyn V. Jamieson
- , Jan Liebelt
- , Alan Ma
- , Nicholas Pachter
- , Sulekha Rajagopalan
- , Anja Ravine
- , Meredith Wilson
- , Jade Caruana
- , Rachael Casella
- , Mark Davis
- , Samantha Edwards
- , Alison Archibald
- , Julie McGaughran
- , Ainsley J. Newson
- , Nigel G. Laing
- & Martin B. Delatycki
-
Correspondence |
Setting a new standard in cystic fibrosis newborn screening illustrates controversial issues as new data emerge
- Philip M. Farrell
-
Article |
Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer
- Binyi Xiao
- , Jun Luo
- , E. Xie
- , Lingheng Kong
- , Jinghua Tang
- , Dingxin Liu
- , Linlin Mao
- , Qiaoqi Sui
- , Weirong Li
- , Zhigang Hong
- , Zhizhong Pan
- , Wu Jiang
- & Pei-Rong Ding
-
-
Article
| Open AccessIdentification of distinct transcriptome signatures of human adipose tissue from fifteen depots
- Dorit Schleinitz
- , Kerstin Krause
- , Tobias Wohland
- , Claudia Gebhardt
- , Nicolas Linder
- , Michael Stumvoll
- , Matthias Blüher
- , Ingo Bechmann
- , Peter Kovacs
- , Martin Gericke
- & Anke Tönjes
-
Article |
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England
- Nicola Flaum
- , Robert D. Morgan
- , George J. Burghel
- , Michael Bulman
- , Andrew R. Clamp
- , Jurjees Hasan
- , Claire L. Mitchell
- , Doina Badea
- , Sarah Moon
- , Martin Hogg
- , Dennis Hadjiyiannakis
- , Tara Clancy
- , Helene Schlecht
- , Emma R. Woodward
- , Emma J. Crosbie
- , Richard J. Edmondson
- , Andrew J. Wallace
- , Gordon C. Jayson
- , Fiona I. Lalloo
- , Elaine F. Harkness
- & D. Gareth R. Evans
-
Article |
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
- Ilse M. van der Werf
- , Sandra Jansen
- , Petra F. de Vries
- , Amber Gerstmans
- , Maartje van de Vorst
- , Anke Van Dijck
- , Bert B. A. de Vries
- , Christian Gilissen
- , Alexander Hoischen
- , Lisenka E. L. M. Vissers
- , R. Frank Kooy
- & Geert Vandeweyer
-
Article |
Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization
- Aziz Belkadi
- , Gaurav Thareja
- , Anna Halama
- , Yasmin Mahmoud
- , Danielle Jones
- , Sam Agnew
- , Joel Malek
- & Karsten Suhre
-
Article
| Open AccessSwitch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data
- Eleonora Riccio
- , Mario Zanfardino
- , Lucia Ferreri
- , Ciro Santoro
- , Sirio Cocozza
- , Ivana Capuano
- , Massimo Imbriaco
- , Sandro Feriozzi
- , Antonio Pisani
- , Antonio Pisani
- , Eleonora Riccio
- , Sirio Cocozza
- , Ciro Santoro
- , Roberta Esposito
- , Massimo Imbriaco
- , Camilla Russo
- , Teodolinda Di Risi
- , Lorenzo Chiariotti
- , Letizia Spinelli
- , Andrea Pontillo
- , Alberto Cuocolo
- , Gilda Cennamo
- & Annamaria Colao
-
Article
| Open AccessVariants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
- Deepak Babu
- , Silvia Vannelli
- , Antonella Fanelli
- , Simona Mellone
- , Ave Maria Baffico
- , Lucia Corrado
- , Wael Al Essa
- , Anna Grandone
- , Simonetta Bellone
- , Alice Monzani
- , Giulia Vinci
- , Luisa De Sanctis
- , Liborio Stuppia
- , Flavia Prodam
- & Mara Giordano
-
Article |
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing
- Jiayao Wang
- , Priyanka R. Ahimaz
- , Somaye Hashemifar
- , Julie Khlevner
- , Joseph A. Picoraro
- , William Middlesworth
- , Mahmoud M. Elfiky
- , Jianwen Que
- , Yufeng Shen
- & Wendy K. Chung
-
Article
| Open AccessExpanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
- Elisabetta Di Fede
- , Valentina Massa
- , Bartolomeo Augello
- , Gabriella Squeo
- , Emanuela Scarano
- , Anna Maria Perri
- , Rita Fischetto
- , Francesco Andrea Causio
- , Giuseppe Zampino
- , Maria Piccione
- , Elena Curridori
- , Tommaso Mazza
- , Stefano Castellana
- , Lidia Larizza
- , Filippo Ghelma
- , Elisa Adele Colombo
- , Maria Chiara Gandini
- , Marco Castori
- , Giuseppe Merla
- , Donatella Milani
- & Cristina Gervasini
-
Article
| Open AccessDetermination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third
- Péter L. Nagy
- , Judit Olasz
- , Endre Neparáczki
- , Nicholas Rouse
- , Karan Kapuria
- , Samantha Cano
- , Huijie Chen
- , Julie Di Cristofaro
- , Goran Runfeldt
- , Natalia Ekomasova
- , Zoltán Maróti
- , János Jeney
- , Sergey Litvinov
- , Murat Dzhaubermezov
- , Lilya Gabidullina
- , Zoltán Szentirmay
- , György Szabados
- , Dragana Zgonjanin
- , Jacques Chiaroni
- , Doron M. Behar
- , Elza Khusnutdinova
- , Peter A. Underhill
- & Miklós Kásler
-
Policy
| Open AccessEMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Sabina Baumgartner-Parzer
- , Martina Witsch-Baumgartner
- & Wolfgang Hoeppner
-
Article |
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
- Olivier Quenez
- , Kevin Cassinari
- , Sophie Coutant
- , François Lecoquierre
- , Kilan Le Guennec
- , Stéphane Rousseau
- , Anne-Claire Richard
- , Stéphanie Vasseur
- , Emilie Bouvignies
- , Jacqueline Bou
- , Gwendoline Lienard
- , Sandrine Manase
- , Steeve Fourneaux
- , Nathalie Drouot
- , Virginie Nguyen-Viet
- , Myriam Vezain
- , Pascal Chambon
- , Géraldine Joly-Helas
- , Nathalie Le Meur
- , Mathieu Castelain
- , Anne Boland
- , Jean-François Deleuze
- , Emmanuelle Génin
- , Dominique Campion
- , Jean-François Dartigues
- , Jean-François Deleuze
- , Jean-Charles Lambert
- , Richard Redon
- , Thomas Ludwig
- , Benjamin Grenier-Boley
- , Sébastien Letort
- , Pierre Lindenbaum
- , Vincent Meyer
- , Olivier Quenez
- , Christian Dina
- , Céline Bellenguez
- , Camille Charbonnier
- , Joanna Giemza
- , Stéphanie Chatel
- , Claude Férec
- , Hervé Le Marec
- , Luc Letenneur
- , Gaël Nicolas
- , Karen Rouault
- , Delphine Bacq
- , Anne Boland
- , Doris Lechner
- , Isabelle Tournier
- , Françoise Charbonnier
- , Edwige Kasper
- , Gaëlle Bougeard
- , Thierry Frebourg
- , Pascale Saugier-Veber
- , Stéphanie Baert-Desurmont
- , Dominique Campion
- , Anne Rovelet-Lecrux
- & Gaël Nicolas
-
Article
| Open AccessDiphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy
- Harmen Hawer
- , Bryce A. Mendelsohn
- , Klaus Mayer
- , Ann Kung
- , Amit Malhotra
- , Sari Tuupanen
- , Jennifer Schleit
- , Ulrich Brinkmann
- & Raffael Schaffrath
-
Viewpoint |
Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy
- Stylianos E. Antonarakis
-
Article |
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome
- Faezeh Sarayloo
- , Dan Spiegelman
- , Daniel Rochefort
- , Fulya Akçimen
- , Rachel De Barros Oliveira
- , Patrick A. Dion
- & Guy A. Rouleau
-
Article |
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
- Marcello Scala
- , Geok Lin Chua
- , Cheen Fei Chin
- , Hessa S. Alsaif
- , Artem Borovikov
- , Saima Riazuddin
- , Sheikh Riazuddin
- , M. Chiara Manzini
- , Mariasavina Severino
- , Alvin Kuk
- , Hao Fan
- , Yalda Jamshidi
- , Mehran Beiraghi Toosi
- , Mohammad Doosti
- , Ehsan Ghayoor Karimiani
- , Vincenzo Salpietro
- , Elena Dadali
- , Galina Baydakova
- , Fedor Konovalov
- , Ekaterina Lozier
- , Emer O’Connor
- , Yasser Sabr
- , Abdullah Alfaifi
- , Farah Ashrafzadeh
- , Pasquale Striano
- , Federico Zara
- , Fowzan S. Alkuraya
- , Henry Houlden
- , Reza Maroofian
- & David L. Silver
-
Article |
Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet
- Ninna Senftleber
- , Marit Eika Jørgensen
- , Emil Jørsboe
- , Fumiaki Imamura
- , Nita Gandhi Forouhi
- , Christina Lytken Larsen
- , Peter Bjerregaard
- , Torben Hansen
- & Anders Albrechtsen
-
Article
| Open AccessDelivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
- Melissa Hill
- , Jennifer Hammond
- , Celine Lewis
- , Rhiannon Mellis
- , Emma Clement
- & Lyn S. Chitty
-
Article
| Open AccessEvaluation of CNV detection tools for NGS panel data in genetic diagnostics
- José Marcos Moreno-Cabrera
- , Jesús del Valle
- , Elisabeth Castellanos
- , Lidia Feliubadaló
- , Marta Pineda
- , Joan Brunet
- , Eduard Serra
- , Gabriel Capellà
- , Conxi Lázaro
- & Bernat Gel
-
Article |
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome
- Sehime Gulsun Temel
- , Mahmut Cerkez Ergoren
- , Elena Manara
- , Stefano Paolacci
- , Gulten Tuncel
- , Seref Gul
- & Matteo Bertelli
-
Article |
AAV-mediated FOXG1 gene editing in human Rett primary cells
- Susanna Croci
- , Miriam Lucia Carriero
- , Katia Capitani
- , Sergio Daga
- , Francesco Donati
- , Filomena Tiziana Papa
- , Elisa Frullanti
- , Diego Lopergolo
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