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Research

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

  • Wouter Steyaert
  • Lydia Sagath
  • German Demidov
  • Vicente A. Yépez
  • Anna Esteve-Codina
  • Julien Gagneur Kornelia Ellwanger Ronny Derks Marjan Weiss Amber den Ouden Simone van den Heuvel Hilde Swinkels Nick Zomer Marloes Steehouwer Luke O'Gorman Galuh Astuti Kornelia Neveling Rebecca Schüle Jishu Xu Matthis Synofzik Danique Beijer Holger Hengel Ludger Schöls Kristl G. Claeys Jonathan Baets Liedewei Van de Vondel Alessandra Ferlini Rita Selvatici Heba Morsy Marwa Saeed Abd Elmaksoud Volker Straub Juliane Müller Veronica Pini Luke Perry Anna Sarkozy Irina Zaharieva Francesco Muntoni Enrico Bugiardini Kiran Polavarapu Rita Horvath Evan Reid Hanns Lochmüller Marco Spinazzi Marco Savarese Leslie Matalonga Steven Laurie Han G. Brunner Holm Graessner Sergi Beltran
  • ... [+44 authors] ...,
  • Stephan Ossowski
  • Lisenka E.L.M. Vissers
  • Christian Gilissen
  • Alexander Hoischen
  • First Published March 26, 2025
Research

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity

  • Jakob M. Goldmann
  • Juliet E. Hampstead
  • Wendy S.W. Wong
  • Amy B. Wilfert
  • Tychele N. Turner
  • Marianne A. Jonker Raphael Bernier Martijn A. Huynen
  • ... [+3 authors] ...,
  • Evan E. Eichler
  • Joris A. Veltman
  • George L. Maxwell
  • Christian Gilissen
  • First Published July 23, 2021
Research

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

  • Monika Karmin
  • Lauri Saag
  • Mário Vicente
  • Melissa A. Wilson Sayres
  • Mari Järve
  • Ulvi Gerst Talas Siiri Rootsi Anne-Mai Ilumäe Reedik Mägi Mario Mitt Luca Pagani Tarmo Puurand Zuzana Faltyskova Florian Clemente Alexia Cardona Ene Metspalu Hovhannes Sahakyan Bayazit Yunusbayev Georgi Hudjashov Michael DeGiorgio Eva-Liis Loogväli Christina Eichstaedt Mikk Eelmets Gyaneshwer Chaubey Kristiina Tambets Sergei Litvinov Maru Mormina Yali Xue Qasim Ayub Grigor Zoraqi Thorfinn Sand Korneliussen Farida Akhatova Joseph Lachance Sarah Tishkoff Kuvat Momynaliev François-Xavier Ricaut Pradiptajati Kusuma Harilanto Razafindrazaka Denis Pierron Murray P. Cox Gazi Nurun Nahar Sultana Rane Willerslev Craig Muller Michael Westaway David Lambert Vedrana Skaro Lejla Kovačevic´ Shahlo Turdikulova Dilbar Dalimova Rita Khusainova Natalya Trofimova Vita Akhmetova Irina Khidiyatova Daria V. Lichman Jainagul Isakova Elvira Pocheshkhova Zhaxylyk Sabitov Nikolay A. Barashkov Pagbajabyn Nymadawa Evelin Mihailov Joseph Wee Tien Seng Irina Evseeva Andrea Bamberg Migliano Syafiq Abdullah George Andriadze Dragan Primorac Lubov Atramentova Olga Utevska Levon Yepiskoposyan Damir Marjanovic´ Alena Kushniarevich Doron M. Behar Christian Gilissen Lisenka Vissers Joris A. Veltman Elena Balanovska Miroslava Derenko Boris Malyarchuk Andres Metspalu Sardana Fedorova Anders Eriksson Andrea Manica Fernando L. Mendez Tatiana M. Karafet Krishna R. Veeramah Neil Bradman Michael F. Hammer Ludmila P. Osipova Oleg Balanovsky Elza K. Khusnutdinova Knut Johnsen Maido Remm Mark G. Thomas Chris Tyler-Smith Peter A. Underhill Eske Willerslev
  • ... [+91 authors] ...,
  • Rasmus Nielsen
  • Mait Metspalu
  • Richard Villems
  • Toomas Kivisild
  • First Published March 13, 2015
Resource

Improved exome prioritization of disease genes through cross-species phenotype comparison

  • Peter N. Robinson
  • Sebastian Köhler
  • Anika Oellrich
  • Kai Wang
  • Christopher J. Mungall
  • Suzanna E. Lewis Nicole Washington Sebastian Bauer Dominik Seelow
  • ... [+4 authors] ...,
  • Peter Krawitz
  • Christian Gilissen
  • Melissa Haendel
  • Damian Smedley
  • First Published October 25, 2013
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