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Christian Gilissen
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:
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
,
Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE
,
Leslie Matalonga
,
Steven Laurie
,
Han G. Brunner
,
Holm Graessner
,
Sergi Beltran
,
Stephan Ossowski
,
Lisenka E.L.M. Vissers
,
Christian Gilissen
,
Alexander Hoischen
,
and
on behalf of the Solve-RD consortium
Genome Res.
April 2025
35
:
755
-
768
;
Published in Advance
March 26, 2025
,
doi:
10.1101/gr.279414.124
Abstract
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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
,
Evan E. Eichler
,
Joris A. Veltman
,
George L. Maxwell
,
and
Christian Gilissen
Genome Res.
September 2021
31
:
1513
-
1518
;
Published in Advance
July 23, 2021
,
doi:
10.1101/gr.271809.120
Abstract
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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
,
Rasmus Nielsen
,
Mait Metspalu
,
Richard Villems
,
and
Toomas Kivisild
Genome Res.
April 2015
25
:
459
-
466
;
Published in Advance
March 13, 2015
,
doi:
10.1101/gr.186684.114
Abstract
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Resource
:
Improved exome prioritization of disease genes through cross-species phenotype comparison
Peter N. Robinson
,
Sebastian Köhler
,
Anika Oellrich
,
Sanger Mouse Genetics Project
,
Kai Wang
,
Christopher J. Mungall
,
Suzanna E. Lewis
,
Nicole Washington
,
Sebastian Bauer
,
Dominik Seelow
,
Peter Krawitz
,
Christian Gilissen
,
Melissa Haendel
,
and
Damian Smedley
Genome Res.
February 2014
24
:
340
-
348
;
Published in Advance
October 25, 2013
,
doi:
10.1101/gr.160325.113
Abstract
Full Text
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OPEN ACCESS ARTICLE
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Cross-modality translation in single-cell multiomics
Long-read sequencing of small supernumerary marker chromosomes
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Honey bee gut microbiota and RNA editing
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