Review Article
|
Open Access
Browse Articles
Filters
-
Article Type
- All (5422)
- Announcement (31)
- Article (3287)
- Book Review (98)
- Brief Communication (62)
- Clinical Utility Gene Card (156)
- Clinical Utility Gene Card Update (27)
- Correspondence (29)
- Corrigendum (105)
- Editorial (30)
- Erratum (34)
- Letter (197)
- Meeting Report (19)
- News and Commentary (102)
- Original Paper (304)
- Policy (94)
- Practical Genetics (47)
- Review (109)
- Review Article (30)
- Short Report (623)
- Viewpoint (38)
-
Year
-
-
Correction |
Correction: MobiDetails: online DNA variants interpretation
- David Baux
- , Charles Van Goethem
- , Olivier Ardouin
- , Thomas Guignard
- , Anne Bergougnoux
- , Michel Koenig
- & Anne-Françoise Roux
-
Article |
Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades
- Lucie Pierron
- , Juliette Hennessy
- , Sophie Tezenas du Montcel
- , Giulia Coarelli
- , Anna Heinzmann
- , Elodie Schaerer
- , Ariane Herson
- , Elodie Petit
- , Marcela Gargiulo
- & Alexandra Durr
-
Correction
| Open AccessCorrection: Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorder
- Ron Nudel
- , Michael E. Benros
- , Morten Dybdahl Krebs
- , Rosa Lundbye Allesøe
- , Camilla Koldbæk Lemvigh
- , Jonas Bybjerg-Grauholm
- , Anders D. Børglum
- , Mark J. Daly
- , Merete Nordentoft
- , Ole Mors
- , David M. Hougaard
- , Preben Bo Mortensen
- , Alfonso Buil
- , Thomas Werge
- , Simon Rasmussen
- & Wesley K. Thompson
-
Article |
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome
- Gou Yamamoto
- , Izumi Miyabe
- , Keisuke Tanaka
- , Miho Kakuta
- , Motoko Watanabe
- , Satoru Kawakami
- , Hideyuki Ishida
- & Kiwamu Akagi
-
Article |
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
- Amanda Brignell
- , Conway Gu
- , Alison Holm
- , Bronwyn Carrigg
- , Daisy A. Sheppard
- , David J. Amor
- & Angela T. Morgan
-
Article
| Open AccessBenefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
- Elin Tønne
- , Bernt Johan Due-Tønnessen
- , Inger-Lise Mero
- , Ulrikke Straume Wiig
- , Mari Ann Kulseth
- , Magnus Dehli Vigeland
- , Ying Sheng
- , Charlotte von der Lippe
- , Kristian Tveten
- , Torstein Ragnar Meling
- , Eirik Helseth
- & Ketil Riddervold Heimdal
-
Article |
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients
- Cedrick Lefol
- , Emilie Sohier
- , Christian Baudet
- , Pierre Naïbo
- , Eric Ruano
- , Chloé Grand-Masson
- , Alain Viari
- & Qing Wang
-
Article
| Open AccessAtrial fibrillation—a complex polygenetic disease
- Julie H. Andersen
- , Laura Andreasen
- & Morten S. Olesen
-
Article |
Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population
- Daniel E. Platt
- , Hovig Artinian
- , Francis Mouzaya
- , Wissam Khalil
- , Francois G. Kamar
- , Elizabeth Matisoo-Smith
- , Francesc Calafell
- , Nassim Nicolas Taleb
- & Pierre Zalloua
-
Brief Communication |
Copy neutral loss of heterozygosity (cnLOH) patterns in synchronous colorectal cancer
- Sandra Tapial
- , Juan Luis García
- , Luis Corchete
- , Andreana N. Holowatyj
- , Jessica Pérez
- , Daniel Rueda
- , Miguel Urioste
- , Rogelio González-Sarmiento
- & José Perea
-
Article |
Whole-exome sequencing of Finnish patients with vascular cognitive impairment
- Saana Mönkäre
- , Liina Kuuluvainen
- , Celia Kun-Rodrigues
- , Susana Carmona
- , Johanna Schleutker
- , Jose Bras
- , Minna Pöyhönen
- , Rita Guerreiro
- & Liisa Myllykangas
-
Correspondence |
Reply to E. Vicente et al.
- Ana Rath
- , Deborah M. Lambert
- , Annie Olry
- , Charlotte Rodwell
- & Yann Le Cam
-
Correspondence |
Regarding the estimations of people affected by rare diseases
- Esther Vicente
- , Laura Pruneda
- & Eva Ardanaz
-
-
Abstracts Collection |
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters
-
-
Article
| Open AccessLong-read trio sequencing of individuals with unsolved intellectual disability
- Marc Pauper
- , Erdi Kucuk
- , Aaron M. Wenger
- , Shreyasee Chakraborty
- , Primo Baybayan
- , Michael Kwint
- , Bart van der Sanden
- , Marcel R. Nelen
- , Ronny Derks
- , Han G. Brunner
- , Alexander Hoischen
- , Lisenka E. L. M. Vissers
- & Christian Gilissen
-
Article
| Open AccessHigh-resolution population-specific recombination rates and their effect on phasing and genotype imputation
- Shabbeer Hassan
- , Ida Surakka
- , Marja-Riitta Taskinen
- , Veikko Salomaa
- , Aarno Palotie
- , Maija Wessman
- , Taru Tukiainen
- , Matti Pirinen
- , Priit Palta
- & Samuli Ripatti
-
Article
| Open AccessReflections on dynamic consent in biomedical research: the story so far
- Harriet J. A. Teare
- , Megan Prictor
- & Jane Kaye
-
Article |
Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases
- Jee-Soo Lee
- , Kyung Bok Lee
- , Han Song
- , ChoongHyun Sun
- , Man Jin Kim
- , Sung Im Cho
- , Young Kyung Lee
- , Sung Sup Park
- & Moon-Woo Seong
-
Article |
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants
- Liis Leitsalu
- , Marili Palover
- , Timo Tõnis Sikka
- , Anu Reigo
- , Mart Kals
- , Kalle Pärn
- , Tiit Nikopensius
- , Tõnu Esko
- , Andres Metspalu
- , Peeter Padrik
- & Neeme Tõnisson
-
Article |
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
- Hagar Mor-Shaked
- , Jonathan Rips
- , Shiri Gershon Naamat
- , Avichai Reich
- , Orly Elpeleg
- , Vardiella Meiner
- & Tamar Harel
-
Policy
| Open AccessOpportunistic genomic screening. Recommendations of the European Society of Human Genetics
- Guido de Wert
- , Wybo Dondorp
- , Angus Clarke
- , Elisabeth M. C. Dequeker
- , Christophe Cordier
- , Zandra Deans
- , Carla G. van El
- , Florence Fellmann
- , Ros Hastings
- , Sabine Hentze
- , Heidi Howard
- , Milan Macek
- , Alvaro Mendes
- , Chris Patch
- , Emmanuelle Rial-Sebbag
- , Vigdis Stefansdottir
- , Martina C. Cornel
- & Francesca Forzano
-
Article
| Open AccessPathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
- Alexander J. M. Blakes
- , Emily Gaul
- , Wayne Lam
- , Nora Shannon
- , Karen M. Knapp
- , Louise S. Bicknell
- , Meremaihi R. Jackson
- , Emma M. Wade
- , Stephen Robertson
- , Susan M. White
- , Raoul Heller
- , Andrew Chase
- , Diana Baralle
- & Andrew G. L. Douglas
-
Article |
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family
- Thomas Eggermann
- , Gundula Kadgien
- , Matthias Begemann
- & Miriam Elbracht
-
Review Article |
The genetics of rod-cone dystrophy in Arab countries: a systematic review
- Lama Jaffal
- , Hawraa Joumaa
- , Zamzam Mrad
- , Christina Zeitz
- , Isabelle Audo
- & Said El Shamieh
-
Article |
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype
- Catia Mio
- , Lorenzo Allegri
- , Nadia Passon
- , Elisa Bregant
- , Eliana Demori
- , Alessandra Franzoni
- , Daniela Driul
- , Andrea Riccio
- , Giuseppe Damante
- & Federica Baldan
-
Correction |
Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
- Lilian Downie
- , Jane Halliday
- , Rachel Burt
- , Sebastian Lunke
- , Elly Lynch
- , Melissa Martyn
- , Zeffie Poulakis
- , Clara Gaff
- , Valerie Sung
- , Melissa Wake
- , Matthew F. Hunter
- , Kerryn Saunders
- , Elizabeth Rose
- , Sharon Lewis
- , Anna Jarmolowicz
- , Dean Phelan
- , Heidi L. Rehm
- & David J. Amor
-
Brief Communication |
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
- Giulia Barcia
- , Marlène Rio
- , Zahra Assouline
- , Coralie Zangarelli
- , Charles-Joris Roux
- , Pascale de Lonlay
- , Julie Steffann
- , Isabelle Desguerre
- , Arnold Munnich
- , Jean-Paul Bonnefont
- , Nathalie Boddaert
- , Agnès Rötig
- , Metodi D. Metodiev
- & Benedetta Ruzzenente
-
Article
| Open AccessPontocerebellar hypoplasia due to bi-allelic variants in MINPP1
- Bart Appelhof
- , Matias Wagner
- , Julia Hoefele
- , Anja Heinze
- , Timo Roser
- , Margarete Koch-Hogrebe
- , Stefan D. Roosendaal
- , Mohammadreza Dehghani
- , Mohammad Yahya Vahidi Mehrjardi
- , Erin Torti
- , Henry Houlden
- , Reza Maroofian
- , Farrah Rajabi
- , Heinrich Sticht
- , Frank Baas
- , Dagmar Wieczorek
- & Rami Abou Jamra
-
Article
| Open AccessA generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease
- Atze J. Bergsma
- , Stijn L. M. in ’t Groen
- , Fabio Catalano
- , Manjiro Yamanaka
- , Satoru Takahashi
- , Toshika Okumiya
- , Ans T. van der Ploeg
- & W. W. M. Pim Pijnappel
-
Article
| Open AccessEnzymatic diagnosis of Pompe disease: lessons from 28 years of experience
- Monica Y. Niño
- , Mark Wijgerde
- , Douglas Oliveira Soares de Faria
- , Marianne Hoogeveen-Westerveld
- , Atze J. Bergsma
- , Mike Broeders
- , Nadine A. M. E. van der Beek
- , Hannerieke J. M. van den Hout
- , Ans T. van der Ploeg
- , Frans W. Verheijen
- & W. W. M. Pim Pijnappel
-
Brief Communication |
MobiDetails: online DNA variants interpretation
- David Baux
- , Charles Van Goethem
- , Olivier Ardouin
- , Thomas Guignard
- , Anne Bergougnoux
- , Michel Koenig
- & Anne-Françoise Roux
-
Article
| Open AccessSubdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain
- Gurdeep Matharu Lall
- , Maarten H. D. Larmuseau
- , Jon H. Wetton
- , Chiara Batini
- , Pille Hallast
- , Tunde I. Huszar
- , Daniel Zadik
- , Sigurd Aase
- , Tina Baker
- , Patricia Balaresque
- , Walter Bodmer
- , Anders D. Børglum
- , Peter de Knijff
- , Hayley Dunn
- , Stephen E. Harding
- , Harald Løvvik
- , Berit Myhre Dupuy
- , Horolma Pamjav
- , Andreas O. Tillmar
- , Maciej Tomaszewski
- , Chris Tyler-Smith
- , Marta Pereira Verdugo
- , Bruce Winney
- , Pragya Vohra
- , Joanna Story
- , Turi E. King
- & Mark A. Jobling
-
Article |
Estimation of the number of people with Down syndrome in Europe
- Gert de Graaf
- , Frank Buckley
- & Brian G. Skotko
-
Article |
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease
- Sanni E. Ruotsalainen
- , Juulia J. Partanen
- , Anna Cichonska
- , Jake Lin
- , Christian Benner
- , Ida Surakka
- , Aarno Palotie
- , Mark Daly
- , Howard Jacob
- , Athena Matakidou
- , Heiko Runz
- , Sally John
- , Robert Plenge
- , Mark McCarthy
- , Julie Hunkapiller
- , Meg Ehm
- , Dawn Waterworth
- , Caroline Fox
- , Anders Malarstig
- , Kathy Klinger
- , Kathy Call
- , Tomi Mäkelä
- , Jaakko Kaprio
- , Petri Virolainen
- , Kari Pulkki
- , Terhi Kilpi
- , Markus Perola
- , Jukka Partanen
- , Anne Pitkäranta
- , Riitta Kaarteenaho
- , Seppo Vainio
- , Kimmo Savinainen
- , Veli-Matti Kosma
- , Urho Kujala
- , Outi Tuovila
- , Minna Hendolin
- , Raimo Pakkanen
- , Jeff Waring
- , Bridget Riley-Gillis
- , Athena Matakidou
- , Heiko Runz
- , Jimmy Liu
- , Shameek Biswas
- , Julie Hunkapiller
- , Dawn Waterworth
- , Meg Ehm
- , Dorothee Diogo
- , Caroline Fox
- , Anders Malarstig
- , Catherine Marshall
- , Xinli Hu
- , Kathy Call
- , Kathy Klinger
- , Matthias Gossel
- , Samuli Ripatti
- , Johanna Schleutker
- , Markus Perola
- , Mikko Arvas
- , Olli Carpen
- , Reetta Hinttala
- , Johannes Kettunen
- , Reijo Laaksonen
- , Arto Mannermaa
- , Juha Paloneva
- , Urho Kujala
- , Outi Tuovila
- , Minna Hendolin
- , Raimo Pakkanen
- , Hilkka Soininen
- , Valtteri Julkunen
- , Anne Remes
- , Reetta Kälviäinen
- , Mikko Hiltunen
- , Jukka Peltola
- , Pentti Tienari
- , Juha Rinne
- , Adam Ziemann
- , Jeffrey Waring
- , Sahar Esmaeeli
- , Nizar Smaoui
- , Anne Lehtonen
- , Susan Eaton
- , Heiko Runz
- , Sanni Lahdenperä
- , Shameek Biswas
- , John Michon
- , Geoff Kerchner
- , Julie Hunkapiller
- , Natalie Bowers
- , Edmond Teng
- , John Eicher
- , Vinay Mehta
- , Padhraig Gormley
- , Kari Linden
- , Christopher Whelan
- , Fanli Xu
- , David Pulford
- , Martti Färkkilä
- , Sampsa Pikkarainen
- , Airi Jussila
- , Timo Blomster
- , Mikko Kiviniemi
- , Markku Voutilainen
- , Bob Georgantas
- , Graham Heap
- , Jeffrey Waring
- , Nizar Smaoui
- , Fedik Rahimov
- , Anne Lehtonen
- , Keith Usiskin
- , Joseph Maranville
- , Tim Lu
- , Natalie Bowers
- , Danny Oh
- , John Michon
- , Vinay Mehta
- , Kirsi Kalpala
- , Melissa Miller
- , Xinli Hu
- , Linda McCarthy
- , Kari Eklund
- , Antti Palomäki
- , Pia Isomäki
- , Laura Pirilä
- , Oili Kaipiainen-Seppänen
- , Johanna Huhtakangas
- , Bob Georgantas
- , Jeffrey Waring
- , Fedik Rahimov
- , Apinya Lertratanakul
- , Nizar Smaoui
- , Anne Lehtonen
- , David Close
- , Marla Hochfeld
- , Natalie Bowers
- , John Michon
- , Dorothee Diogo
- , Vinay Mehta
- , Kirsi Kalpala
- , Nan Bing
- , Xinli Hu
- , Jorge Esparza Gordillo
- , Nina Mars
- , Tarja Laitinen
- , Margit Pelkonen
- , Paula Kauppi
- , Hannu Kankaanranta
- , Terttu Harju
- , Nizar Smaoui
- , David Close
- , Steven Greenberg
- , Hubert Chen
- , Natalie Bowers
- , John Michon
- , Vinay Mehta
- , Jo Betts
- , Soumitra Ghosh
- , Veikko Salomaa
- , Teemu Niiranen
- , Markus Juonala
- , Kaj Metsärinne
- , Mika Kähönen
- , Juhani Junttila
- , Markku Laakso
- , Jussi Pihlajamäki
- , Juha Sinisalo
- , Marja-Riitta Taskinen
- , Tiinamaija Tuomi
- , Jari Laukkanen
- , Ben Challis
- , Andrew Peterson
- , Julie Hunkapiller
- , Natalie Bowers
- , John Michon
- , Dorothee Diogo
- , Audrey Chu
- , Vinay Mehta
- , Jaakko Parkkinen
- , Melissa Miller
- , Anthony Muslin
- , Dawn Waterworth
- , Heikki Joensuu
- , Tuomo Meretoja
- , Olli Carpen
- , Lauri Aaltonen
- , Annika Auranen
- , Peeter Karihtala
- , Saila Kauppila
- , Päivi Auvinen
- , Klaus Elenius
- , Relja Popovic
- , Jeffrey Waring
- , Bridget Riley-Gillis
- , Anne Lehtonen
- , Athena Matakidou
- , Jennifer Schutzman
- , Julie Hunkapiller
- , Natalie Bowers
- , John Michon
- , Vinay Mehta
- , Andrey Loboda
- , Aparna Chhibber
- , Heli Lehtonen
- , Stefan McDonough
- , Marika Crohns
- , Diptee Kulkarni
- , Kai Kaarniranta
- , Joni Turunen
- , Terhi Ollila
- , Sanna Seitsonen
- , Hannu Uusitalo
- , Vesa Aaltonen
- , Hannele Uusitalo-Järvinen
- , Marja Luodonpää
- , Nina Hautala
- , Heiko Runz
- , Erich Strauss
- , Natalie Bowers
- , Hao Chen
- , John Michon
- , Anna Podgornaia
- , Vinay Mehta
- , Dorothee Diogo
- , Joshua Hoffman
- , Kaisa Tasanen
- , Laura Huilaja
- , Katariina Hannula-Jouppi
- , Teea Salmi
- , Sirkku Peltonen
- , Leena Koulu
- , Ilkka Harvima
- , Kirsi Kalpala
- , Ying Wu
- , David Choy
- , John Michon
- , Nizar Smaoui
- , Fedik Rahimov
- , Anne Lehtonen
- , Dawn Waterworth
- , Anu Jalanko
- , Risto Kajanne
- , Ulrike Lyhs
- , Mari Kaunisto
- , Justin Wade Davis
- , Bridget Riley-Gillis
- , Danjuma Quarless
- , Slavé Petrovski
- , Jimmy Liu
- , Chia-Yen Chen
- , Paola Bronson
- , Robert Yang
- , Joseph Maranville
- , Shameek Biswas
- , Diana Chang
- , Julie Hunkapiller
- , Tushar Bhangale
- , Natalie Bowers
- , Dorothee Diogo
- , Emily Holzinger
- , Padhraig Gormley
- , Xulong Wang
- , Xing Chen
- , Åsa Hedman
- , Kirsi Auro
- , Clarence Wang
- , Ethan Xu
- , Franck Auge
- , Clement Chatelain
- , Mitja Kurki
- , Samuli Ripatti
- , Mark Daly
- , Juha Karjalainen
- , Aki Havulinna
- , Anu Jalanko
- , Kimmo Palin
- , Priit Palta
- , Pietro Della Briotta Parolo
- , Wei Zhou
- , Susanna Lemmelä
- , Manuel Rivas
- , Jarmo Harju
- , Aarno Palotie
- , Arto Lehisto
- , Andrea Ganna
- , Vincent Llorens
- , Antti Karlsson
- , Kati Kristiansson
- , Mikko Arvas
- , Kati Hyvärinen
- , Jarmo Ritari
- , Tiina Wahlfors
- , Miika Koskinen
- , Olli Carpen
- , Johannes Kettunen
- , Katri Pylkäs
- , Marita Kalaoja
- , Minna Karjalainen
- , Tuomo Mantere
- , Eeva Kangasniemi
- , Sami Heikkinen
- , Arto Mannermaa
- , Eija Laakkonen
- , Juha Kononen
- , Anu Loukola
- , Päivi Laiho
- , Tuuli Sistonen
- , Essi Kaiharju
- , Markku Laukkanen
- , Elina Järvensivu
- , Sini Lähteenmäki
- , Lotta Männikkö
- , Regis Wong
- , Kati Kristiansson
- , Hannele Mattsson
- , Susanna Lemmelä
- , Tero Hiekkalinna
- , Manuel González Jiménez
- , Kati Donner
- , Priit Palta
- , Kalle Pärn
- , Javier Nunez-Fontarnau
- , Jarmo Harju
- , Elina Kilpeläinen
- , Timo P. Sipilä
- , Georg Brein
- , Alexander Dada
- , Ghazal Awaisa
- , Anastasia Shcherban
- , Tuomas Sipilä
- , Hannele Laivuori
- , Aki Havulinna
- , Susanna Lemmelä
- , Tuomo Kiiskinen
- , Tarja Laitinen
- , Harri Siirtola
- , Javier Gracia Tabuenca
- , Lila Kallio
- , Sirpa Soini
- , Jukka Partanen
- , Kimmo Pitkänen
- , Seppo Vainio
- , Kimmo Savinainen
- , Veli-Matti Kosma
- , Teijo Kuopio
- , Mary Pat Reeve
- , Priit Palta
- , Marko Salmi
- , Sirpa Jalkanen
- , Ari Ahola-Olli
- , Aarno Palotie
- , Veikko Salomaa
- , Mark J. Daly
- , Matti Pirinen
- , Samuli Ripatti
- & Jukka Koskela
-
Brief Communication |
Dissecting the paternal founders of Mundari (Austroasiatic) speakers associated with the language dispersal in South Asia
- Prajjval Pratap Singh
- , Shani Vishwakarma
- , Gazi Nurun Nahar Sultana
- , Arno Pilvar
- , Monika Karmin
- , Siiri Rootsi
- , Richard Villems
- , Mait Metspalu
- , Doron M. Behar
- , Toomas Kivisild
- , George van Driem
- & Gyaneshwer Chaubey
-
Review Article |
Measuring clinical utility in the context of genetic testing: a scoping review
- Shantel E. Walcott
- , Fiona A. Miller
- , Kourtney Dunsmore
- , Tanya Lazor
- , Brian M. Feldman
- & Robin Z. Hayeems
-
Brief Communication |
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
- Julia Brinkmann
- , Christina Lissewski
- , Valentina Pinna
- , Yoann Vial
- , Francesca Pantaleoni
- , Francesca Lepri
- , Paola Daniele
- , Birute Burnyte
- , Goran Cuturilo
- , Christine Fauth
- , Alper Gezdirici
- , Dieter Kotzot
- , Elif Yılmaz Güleç
- , Violeta Iotova
- , Denny Schanze
- , Francis Ramond
- , Markéta Havlovicová
- , Gulen Eda Utine
- , Pelin Ozlem Simsek-Kiper
- , Milena Stoyanova
- , Alain Verloes
- , Alessandro De Luca
- , Marco Tartaglia
- , Hélène Cavé
- & Martin Zenker
-
Article |
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers
- Isabella Garagiola
- , Mimosa Mortarino
- , Simona Maria Siboni
- , Marco Boscarino
- , Maria Elisa Mancuso
- , Marina Biganzoli
- , Elena Santagostino
- & Flora Peyvandi
-
Article |
Regulatory landscape of providing information on newborn screening to parents across Europe
- Věra Franková
- , Riona O. Driscoll
- , Marleen E. Jansen
- , J. Gerard Loeber
- , Viktor Kožich
- , James Bonham
- , Patricia Borde
- , Ian Brincat
- , David Cheillan
- , Eugenie Dekkers
- , Ralph Fingerhut
- , Iva Bilandžija Kuš
- , Panagiotis Girginoudis
- , Urh Groselj
- , David Hougaard
- , Mária Knapková
- , Giancarlo la Marca
- , Ieva Malniece
- , Michaela Iuliana Nanu
- , Uta Nennstiel
- , Nataliia Olkhovych
- , Mariusz Oltarzewski
- , Rolf D. Pettersen
- , Gabor Racz
- , Karit Reinson
- , Damilya Salimbayeva
- , Jurgita Songailiene
- , Laura Vilarinho
- , Marios Vogazianos
- , Rolf H. Zetterström
- , Maximilian Zeyda
- , Zandra C. Deans
- , Christi J. van Asperen
- , Mick J. Henderson
- , David Barton
- , Elisabeth M. C. Dequeker
- , Isabel Marques Carreira
- , Thomy de Ravel
- , Katrina Rack
- & Katrin Õunap
-
Brief Communication
| Open AccessPAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
- Dulce Lima Cunha
- , Nicholas Owen
- , Vijay Tailor
- , Marta Corton
- , Maria Theodorou
- & Mariya Moosajee
-
Article |
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis
- Simon Haworth
- , Pik Fang Kho
- , Pernilla Lif Holgerson
- , Liang-Dar Hwang
- , Nicholas J. Timpson
- , Miguel E. Rentería
- , Ingegerd Johansson
- & Gabriel Cuellar-Partida
-
Article |
Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers
- Gabriel Lázaro-Muñoz
- , Laura Torgerson
- , Hadley Stevens Smith
- & Stacey Pereira
-
Article |
Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany
- Gesine Richter
- , Christoph Borzikowsky
- , Wiebke Lesch
- , Sebastian C. Semler
- , Eline M. Bunnik
- , Alena Buyx
- & Michael Krawczak
-
Article |
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians
- Agnès E. Sjöstrand
- , Per Sjödin
- , Tatyana Hegay
- , Anna Nikolaeva
- , Farhad Shayimkulov
- , Michael G. B. Blum
- , Evelyne Heyer
- & Mattias Jakobsson
-
Brief Communication |
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
- Patra Yeetong
- , Chaipat Chunharas
- , Monnat Pongpanich
- , Mark F. Bennett
- , Chalurmpon Srichomthong
- , Nath Pasutharnchat
- , Kanya Suphapeetiporn
- , Melanie Bahlo
- & Vorasuk Shotelersuk
-
Article |
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation
- Etienne Mornet
- , Agnès Taillandier
- , Christelle Domingues
- , Annika Dufour
- , Emmanuelle Benaloun
- , Nicole Lavaud
- , Fabienne Wallon
- , Nathalie Rousseau
- , Carole Charle
- , Mihelaiti Guberto
- , Christine Muti
- & Brigitte Simon-Bouy
-
Article
| Open AccessNAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
- Nina McTiernan
- , Harinder Gill
- , Carlos E. Prada
- , Harry Pachajoa
- , Juliana Lores
- & Thomas Arnesen
