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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

Research

ZAK as a cause of limb defects in humans and mice" > Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Malte Spielmann
Naseebullah Kakar
Naeimeh Tayebi
Catherine Leettola
Gudrun Nürnberg
Nadine Sowada Darío G. Lupiáñez Izabela Harabula Ricarda Flöttmann Denise Horn Wing Lee Chan Lars Wittler Rüstem Yilmaz Janine Altmüller Holger Thiele Hans van Bokhoven Charles E. Schwartz Peter Nürnberg James U. Bowie
... [+14 authors] ...,
Jamil Ahmad
Christian Kubisch
Stefan Mundlos
Guntram Borck

First Published January 11, 2016

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

Coding exons function as tissue-specific enhancers of nearby genes

Ramon Y. Birnbaum
E. Josephine Clowney
Orly Agamy
Mee J. Kim
Jingjing Zhao
Takayuki Yamanaka Zachary Pappalardo Shoa L. Clarke Aaron M. Wenger Loan Nguyen Fiorella Gurrieri David B. Everman Charles E. Schwartz
... [+8 authors] ...,
Ohad S. Birk
Gill Bejerano
Stavros Lomvardas
Nadav Ahituv

First Published March 22, 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

Research

Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure

Clelia Tiziana Storlazzi
Angelo Lonoce
Maria C. Guastadisegni
Domenico Trombetta
Pietro D'Addabbo
Giulia Daniele Alberto L'Abbate Gemma Macchia Cecilia Surace Klaas Kok Reinhard Ullmann Stefania Purgato
... [+7 authors] ...,
Orazio Palumbo
Massimo Carella
Peter F. Ambros
Mariano Rocchi

First Published July 14, 2010

Letter

Complex selection on 5′ splice sites in intron-rich organisms

Manuel Irimia
Scott William Roy
Daniel E. Neafsey
Josep F. Abril
Jordi Garcia-Fernandez
Eugene V. Koonin

First Published September 10, 2009

Methods

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Heather C. Mefford
Gregory M. Cooper
Troy Zerr
Joshua D. Smith
Carl Baker
Neil Shafer Erik C. Thorland
... [+2 authors] ...,
Cindy Skinner
Charles E. Schwartz
Deborah A. Nickerson
Evan E. Eichler

First Published June 8, 2009

Letter

Evolutionary descent of a human chromosome 6 neocentromere: A jump back to 17 million years ago

Oronzo Capozzi
Stefania Purgato
Pietro D'Addabbo
Nicoletta Archidiacono
Paola Battaglia
Anna Baroncini
... [+1 authors] ...,
Antonella Capucci
Roscoe Stanyon
Giuliano Della Valle
Mariano Rocchi

First Published May 1, 2009

LETTER

Sequencing human–gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

Santhosh Girirajan
Lin Chen
Tina Graves
Tomas Marques-Bonet
Mario Ventura
Catrina Fronick Lucinda Fulton Mariano Rocchi
... [+3 authors] ...,
Robert S. Fulton
Richard K. Wilson
Elaine R. Mardis
Evan E. Eichler

First Published November 24, 2008

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