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Welcome to European Journal of Human Genetics

Providing insights into human genetics, genomics, molecular, clinical and cytogenetics research   

Latest Issue

European Journal of Human Genetics is a Transformative Journal; authors can publish using the traditional publishing route OR Open Access.
Our Open Access option complies with funder and institutional requirements.

Latest Research

  • Article
    | Open Access

    • Marie Gaille
    • , Ruth Horn
    • , Mark Bale
    • , Catherine Bourgain
    • , James Buchanan
    • , Anne Cambon-Thomsen
    • , Herve Chneiweiss
    • , Angus Clarke
    • , Edward Dove
    • , Xavier Guchet
    • , Nina Hallowell
    • , Angeliki Kerasidou
    • , Anneke Lucassen
    • , Fiona Maleady-Crowe
    • , Jennifer Merchant
    • , Michael Parker
    • , Alexandra Soulier
    •  & Carine Vassy
  • Article
    | Open Access

    • Sergio Daga
    • , Chiara Fallerini
    • , Margherita Baldassarri
    • , Francesca Fava
    • , Floriana Valentino
    • , Gabriella Doddato
    • , Elisa Benetti
    • , Simone Furini
    • , Annarita Giliberti
    • , Rossella Tita
    • , Sara Amitrano
    • , Mirella Bruttini
    • , Ilaria Meloni
    • , Anna Maria Pinto
    • , Francesco Raimondi
    • , Alessandra Stella
    • , Filippo Biscarini
    • , Nicola Picchiotti
    • , Marco Gori
    • , Pietro Pinoli
    • , Stefano Ceri
    • , Maurizio Sanarico
    • , Francis P. Crawley
    • , Giovanni Birolo
    • , Francesca Montagnani
    • , Laura Di Sarno
    • , Andrea Tommasi
    • , Maria Palmieri
    • , Susanna Croci
    • , 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
    • , Susanna Guerrini
    • , Edoardo Conticini
    • , Luca Cantarini
    • , Bruno Frediani
    • , Danilo Tacconi
    • , Chiara Spertilli
    • , Marco Feri
    • , Alice Donati
    • , Raffaele Scala
    • , Luca Guidelli
    • , Genni Spargi
    • , Marta Corridi
    • , Cesira Nencioni
    • , Leonardo Croci
    • , Gian Piero Caldarelli
    • , Maurizio Spagnesi
    • , Paolo Piacentini
    • , Maria Bandini
    • , Elena Desanctis
    • , Silvia Cappelli
    • , Anna Canaccini
    • , 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
    • , Francesca Gatti
    • , Saverio Giuseppe Parisi
    • , Francesco Castelli
    • , Maria Eugenia Quiros-Roldan
    • , Paola Magro
    • , Isabella Zanella
    • , Matteo Della Monica
    • , Carmelo Piscopo
    • , Mario Capasso
    • , Roberta Russo
    • , Immacolata Andolfo
    • , Achille Iolascon
    • , Giuseppe Fiorentino
    • , 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
    • , Ilaria Meloni
    • , Maria Antonietta Mencarelli
    • , Caterina Lo Rizzo
    • , Elena Bargagli
    • , Marco Mandalà
    • , Alessia Giorli
    • , Lorenzo Salerni
    • , Patrizia Zucchi
    • , Pierpaolo Parravicini
    • , Elisabetta Menatti
    • , Stefano Baratti
    • , Tullio Trotta
    • , Ferdinando Giannattasio
    • , Gabriella Coiro
    • , Fabio Lena
    • , Domenico A. Coviello
    • , Cristina Mussini
    • , Giancarlo Bosio
    • , Sandro Mancarella
    • , Luisa Tavecchia
    • , Alessandra Renieri
    • , Francesca Mari
    •  & Elisa Frullanti

News & Comment

Collection

ASHG 2019 Annual Meeting

The American Society of Human Genetics annual meeting is upon us, 15th - 19th October 2019 and will focus on all aspects of human genetics, particularly topics that integrate multiple basic science and clinical aspects of human genetic disease. The Editor-in-Chief of EJHG in the spirit of this important event is pleased to showcase the work of many in this field as they align with the critical themes of this exciting congress.