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Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Konstantin Popadin
Stephan Peischl
Marco Garieri
M. Reza Sailani
Audrey Letourneau
Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
... [+4 authors] ...,
Diogo Meyer
Laurent Excoffier
Alexandre Reymond
Stylianos E. Antonarakis

First Published December 13, 2017

Research

Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal

Pille Hallast
Pierpaolo Maisano Delser
Chiara Batini
Daniel Zadik
Mariano Rocchi
Werner Schempp
Chris Tyler-Smith
Mark A. Jobling

First Published February 16, 2016

Erratum

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published April 1, 2015

Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

David B. West
Ravi K. Pasumarthi
Brian Baridon
Esi Djan
Amanda Trainor
Stephen M. Griffey Eric K. Engelhard
... [+2 authors] ...,
Jared Rapp
Bowen Li
Pieter J. de Jong
K.C. Kent Lloyd

First Published January 15, 2015

Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published January 5, 2015

Research

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

Giuliana Giannuzzi
Eugenia Migliavacca
Alexandre Reymond

First Published June 10, 2014

Method

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

Cédric Howald
Andrea Tanzer
Jacqueline Chrast
Felix Kokocinski
Thomas Derrien
Nathalie Walters Jose M. Gonzalez Adam Frankish Bronwen L. Aken Thibaut Hourlier Jan-Hinnerk Vogel Simon White Stephen Searle
... [+8 authors] ...,
Jennifer Harrow
Tim J. Hubbard
Roderic Guigó
Alexandre Reymond

First Published September 5, 2012

Resource

GENCODE: The reference human genome annotation for The ENCODE Project

Jennifer Harrow
Adam Frankish
Jose M. Gonzalez
Electra Tapanari
Mark Diekhans
Felix Kokocinski Bronwen L. Aken Daniel Barrell Amonida Zadissa Stephen Searle If Barnes Alexandra Bignell Veronika Boychenko Toby Hunt Mike Kay Gaurab Mukherjee Jeena Rajan Gloria Despacio-Reyes Gary Saunders Charles Steward Rachel Harte Michael Lin Cédric Howald Andrea Tanzer Thomas Derrien Jacqueline Chrast Nathalie Walters Suganthi Balasubramanian Baikang Pei Michael Tress Jose Manuel Rodriguez Iakes Ezkurdia Jeltje van Baren Michael Brent David Haussler Manolis Kellis Alfonso Valencia
... [+32 authors] ...,
Alexandre Reymond
Mark Gerstein
Roderic Guigó
Tim J. Hubbard

First Published September 5, 2012

Resource

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

Oronzo Capozzi
Lucia Carbone
Roscoe R. Stanyon
Annamaria Marra
Fengtang Yang
Christopher W. Whelan
Pieter J. de Jong
Mariano Rocchi
Nicoletta Archidiacono

First Published August 14, 2012

Research

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

Elodie Gazave
Fleur Darré
Carlos Morcillo-Suarez
Natalia Petit-Marty
Angel Carreño
Urko M. Marigorta Oliver A. Ryder Antoine Blancher Mariano Rocchi Elena Bosch
... [+5 authors] ...,
Carl Baker
Tomàs Marquès-Bonet
Evan E. Eichler
Arcadi Navarro

First Published August 8, 2011

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Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Research

Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal

Erratum

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Research

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

Method

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

Resource

GENCODE: The reference human genome annotation for The ENCODE Project

Resource

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

Research

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

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