Search | Genome Research

Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

Hao Zhu
Jiao Zhang
Soumya Rao
Matthew D. Durbin
Ying Li
Ruirui Lang Jiqiang Liu Baichuan Xiao Hailin Shan Ziqiu Meng Jinmo Wang Xiaokai Tang Zhenni Shi Liza L. Cox Shouqin Zhao Stephanie M. Ware Tiong Y. Tan Michelle de Silva Lyndon Gallacher Ting Liu Jie Mi Changqing Zeng Hou-Feng Zheng
... [+18 authors] ...,
Qingguo Zhang
Stylianos E. Antonarakis
Timothy C. Cox
Yong-Biao Zhang

First Published April 15, 2025

Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Stylianos E. Antonarakis

First Published March 31, 2022

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

Research

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

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

Vladimir B. Seplyarskiy
Ruslan A. Soldatov
Konstantin Y. Popadin
Stylianos E. Antonarakis
Georgii A. Bazykin
Sergey I. Nikolaev

First Published January 11, 2016

Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Heather Fairfield
Anuj Srivastava
Guruprasad Ananda
Rangjiao Liu
Martin Kircher
Anuradha Lakshminarayana Belinda S. Harris Son Yong Karst Louise A. Dionne Coleen C. Kane Michelle Curtain Melissa L. Berry Patricia F. Ward-Bailey Ian Greenstein Candice Byers Anne Czechanski Jocelyn Sharp Kristina Palmer Polyxeni Gudis Whitney Martin Abby Tadenev Laurent Bogdanik C. Herbert Pratt Bo Chang David G. Schroeder Gregory A. Cox Paul Cliften Jeffrey Milbrandt Stephen Murray Robert Burgess David E. Bergstrom Leah Rae Donahue Hanan Hamamy Amira Masri Federico A. Santoni
... [+30 authors] ...,
Periklis Makrythanasis
Stylianos E. Antonarakis
Jay Shendure
Laura G. Reinholdt

First Published April 27, 2015

Research

Methylomic trajectories across human fetal brain development

Helen Spiers
Eilis Hannon
Leonard C. Schalkwyk
Rebecca Smith
Chloe C.Y. Wong
Michael C. O’Donovan
Nicholas J. Bray
Jonathan Mill

First Published February 3, 2015

Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Federico A. Santoni
Periklis Makrythanasis
Sergey Nikolaev
Michel Guipponi
Daniel Robyr
Armand Bottani
Stylianos E. Antonarakis

First Published January 3, 2014

Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

M. Reza Sailani
Periklis Makrythanasis
Armand Valsesia
Federico A. Santoni
Samuel Deutsch
Konstantin Popadin Christelle Borel Eugenia Migliavacca Andrew J. Sharp Genevieve Duriaux Sail Emilie Falconnet Kelly Rabionet Clara Serra-Juhé Stefano Vicari Daniela Laux Yann Grattau Guy Dembour Andre Megarbane Renaud Touraine Samantha Stora Sofia Kitsiou Helena Fryssira Chariklia Chatzisevastou-Loukidou Emmanouel Kanavakis Giuseppe Merla Damien Bonnet
... [+21 authors] ...,
Luis A. Pérez-Jurado
Xavier Estivill
Jean M. Delabar
Stylianos E. Antonarakis

First Published June 19, 2013

Resource

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

Alexandra C. Nica
Halit Ongen
Jean-Claude Irminger
Domenico Bosco
Thierry Berney
Stylianos E. Antonarakis
Philippe A. Halban
Emmanouil T. Dermitzakis

First Published May 28, 2013

Research

DNA methylation profiles of human active and inactive X chromosomes

Andrew J. Sharp
Elisavet Stathaki
Eugenia Migliavacca
Manisha Brahmachary
Stephen B. Montgomery
Yann Dupre
Stylianos E. Antonarakis

First Published August 23, 2011

Research

cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts" > Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

Christelle Borel
Samuel Deutsch
Audrey Letourneau
Eugenia Migliavacca
Stephen B. Montgomery
Antigone S. Dimas Charles E. Vejnar Homa Attar Maryline Gagnebin Corinne Gehrig
... [+5 authors] ...,
Emilie Falconnet
Yann Dupré
Emmanouil T. Dermitzakis
Stylianos E. Antonarakis

First Published December 8, 2010

Method

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

Andrew J. Sharp
Eugenia Migliavacca
Yann Dupre
Elisavet Stathaki
Mohammad Reza Sailani
Alessandra Baumer Albert Schinzel Deborah J. Mackay David O. Robinson Gilda Cobellis
... [+5 authors] ...,
Luigi Cobellis
Han G. Brunner
Bernhard Steiner
Stylianos E. Antonarakis

First Published July 14, 2010

Methods

Transcriptional and post-transcriptional profile of human chromosome 21

Sergey I. Nikolaev
Samuel Deutsch
Raphael Genolet
Christelle Borel
Leila Parand
Catherine Ucla Frederic Schütz Genevieve Duriaux Sail Yann Dupré Pascale Jaquier-Gubler Tanguy Araud Beatrice Conne
... [+7 authors] ...,
Patrick Descombes
Jean-Dominique Vassalli
Joseph Curran
Stylianos E. Antonarakis

First Published July 6, 2009

RESOURCE

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

Robert Lyle
Paola Prandini
Kazutoyo Osoegawa
Boudewijn ten Hallers
Sean Humphray
Baoli Zhu Eduardo Eyras Robert Castelo Christine P. Bird Sarantos Gagos Carol Scott Antony Cox Samuel Deutsch Catherine Ucla Marc Cruts Sophie Dahoun Xinwei She Frederique Bena Sheng-Yue Wang Christine Van Broeckhoven Evan E. Eichler Roderic Guigo
... [+17 authors] ...,
Jane Rogers
Pieter J. de Jong
Alexandre Reymond
Stylianos E. Antonarakis

First Published September 25, 2007

ARTICLE

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Elliott H. Margulies
Gregory M. Cooper
George Asimenos
Daryl J. Thomas
Colin N. Dewey
Adam Siepel Ewan Birney Damian Keefe Ariel S. Schwartz Minmei Hou James Taylor Sergey Nikolaev Juan I. Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham James B. Brown Peter Bickel Ian Holmes James C. Mullikin Abel Ureta-Vidal Benedict Paten Eric A. Stone Kate R. Rosenbloom W. James Kent Gerard G. Bouffard Xiaobin Guan Nancy F. Hansen Jacquelyn R. Idol Valerie V.B. Maduro Baishali Maskeri Jennifer C. McDowell Morgan Park Pamela J. Thomas Alice C. Young Robert W. Blakesley Donna M. Muzny Erica Sodergren David A. Wheeler Kim C. Worley Huaiyang Jiang George M. Weinstock Richard A. Gibbs Tina Graves Robert Fulton Elaine R. Mardis Richard K. Wilson Michele Clamp James Cuff Sante Gnerre David B. Jaffe Jean L. Chang Kerstin Lindblad-Toh Eric S. Lander Angie Hinrichs Heather Trumbower Hiram Clawson Ann Zweig Robert M. Kuhn Galt Barber Rachel Harte Donna Karolchik Matthew A. Field Richard A. Moore Carrie A. Matthewson Jacqueline E. Schein Marco A. Marra Stylianos E. Antonarakis Serafim Batzoglou Nick Goldman Ross Hardison David Haussler
... [+68 authors] ...,
Webb Miller
Lior Pachter
Eric D. Green
Arend Sidow

First Published June 13, 2007

ARTICLE

Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions

France Denoeud
Philipp Kapranov
Catherine Ucla
Adam Frankish
Robert Castelo
Jorg Drenkow Julien Lagarde Tyler Alioto Caroline Manzano Jacqueline Chrast Sujit Dike Carine Wyss Charlotte N. Henrichsen Nancy Holroyd Mark C. Dickson Ruth Taylor Zahra Hance Sylvain Foissac Richard M. Myers Jane Rogers Tim Hubbard Jennifer Harrow
... [+17 authors] ...,
Roderic Guigó
Thomas R. Gingeras
Stylianos E. Antonarakis
Alexandre Reymond

First Published June 13, 2007

LETTER

Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution

Deyou Zheng
Adam Frankish
Robert Baertsch
Philipp Kapranov
Alexandre Reymond
Siew Woh Choo Yontao Lu France Denoeud Stylianos E. Antonarakis Michael Snyder Yijun Ruan Chia-Lin Wei
... [+7 authors] ...,
Thomas R. Gingeras
Roderic Guigó
Jennifer Harrow
Mark B. Gerstein

First Published June 13, 2007

LETTER

Structured RNAs in the ENCODE selected regions of the human genome

Stefan Washietl
Jakob S. Pedersen
Jan O. Korbel
Claudia Stocsits
Andreas R. Gruber
Jörg Hackermüller Jana Hertel Manja Lindemeyer Kristin Reiche Andrea Tanzer Catherine Ucla Carine Wyss Stylianos E. Antonarakis France Denoeud Julien Lagarde Jorg Drenkow Philipp Kapranov Thomas R. Gingeras Roderic Guigó Michael Snyder
... [+15 authors] ...,
Mark B. Gerstein
Alexandre Reymond
Ivo L. Hofacker
Peter F. Stadler

First Published June 13, 2007

LETTER

Tandem chimerism as a means to increase protein complexity in the human genome

Genís Parra
Alexandre Reymond
Noura Dabbouseh
Emmanouil T. Dermitzakis
Robert Castelo
Timothy M. Thomson
Stylianos E. Antonarakis
Roderic Guigó

First Published December 12, 2005

LETTER

Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome

Robert Lyle
Corinne Gehrig
Charlotte Neergaard-Henrichsen
Samuel Deutsch
Stylianos E. Antonarakis

First Published July 1, 2004

LETTER

Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic Environment

Emmanouil T. Dermitzakis
Ewen Kirkness
Scott Schwarz
Ewan Birney
Alexandre Reymond
Stylianos E. Antonarakis

First Published April 12, 2004

RESOURCE

A cSNP Map and Database for Human Chromosome 21

Samuel Deutsch
Christian Iseli
Philipp Bucher
Stylianos E. Antonarakis
Hamish S. Scott

First Published January 18, 2001

LETTER

The Mouse Brain Transcriptome by SAGE: Differences in Gene Expression between P30 Brains of the Partial Trisomy 16 Mouse Model of Down Syndrome (Ts65Dn) and Normals

Roman Chrast
Hamish S. Scott
Marie Pierre Papasavvas
Colette Rossier
Emmanuel S. Antonarakis
Christine Barras Muriel T. Davisson Cecilia Schmidt
... [+3 authors] ...,
Xavier Estivill
Mara Dierssen
Melanie Pritchard
Stylianos E. Antonarakis

First Published December 1, 2000

ARTICLE

Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

Audrey Lynn
Carl Kashuk
Michael B. Petersen
Jeffrey A. Bailey
David R. Cox
Stylianos E. Antonarakis
Aravinda Chakravarti

First Published September 1, 2000

LETTER

A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes

Sheng-Yue Wang
Marc Cruts
Jurgen Del-Favero
Yi Zhang
Fadel Tissir
Marie-Claude Potier David Patterson Dean Nizetic Assumpció Bosch Haiming Chen Lynda Bennett
... [+6 authors] ...,
Xavier Estivill
Anna Kessling
Stylianos E. Antonarakis
Christine van Broeckhoven

First Published November 1, 1999

LETTER

Drosophila single-minded Gene SIM1 on Chromosome 6q and SIM2 on 21q Within the Down Syndrome Chromosomal Region" > Cloning of Two Human Homologs of the Drosophila single-minded Gene SIM1 on Chromosome 6q and SIM2 on 21q Within the Down Syndrome Chromosomal Region

Roman Chrast
Hamish S. Scott
Haiming Chen
Jun Kudoh
Colette Rossier
Shinsei Minoshima
Yimin Wang
Nobuyoshi Shimizu
Stylianos E. Antonarakis

First Published June 1, 1997

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