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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

Research

Highly complete long-read genomes reveal pangenomic variation underlying yeast phenotypic diversity

Cory A. Weller
Ilya Andreev
Michael J. Chambers
Morgan Park
Joshua S. Bloom
Meru J. Sadhu Beatrice B. Barnabas Sean Black Gerard G. Bouffard Shelise Y. Brooks Juyun Crawford Holly Marfani Lyudmila Dekhtyar Joel Han Shi-Ling Ho Richelle Legaspi Quino L. Maduro Catherine A. Masiello Jennifer C. McDowell Casandra Montemayor James C. Mullikin Morgan Park Nancy L. Riebow Karen Schandler Brian Schmidt Christina Sison Sirintorn Stantripop
... [+22 authors] ...,
James W. Thomas
Pamela J. Thomas
Meghana Vemulapalli
Alice C. Young

First Published May 1, 2023

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

Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

Tongwu Zhang
Jiyeon Choi
Michael A. Kovacs
Jianxin Shi
Mai Xu
Alisa M. Goldstein Adam J. Trower D. Timothy Bishop Mark M. Iles David L. Duffy Stuart MacGregor Laufey T. Amundadottir Matthew H. Law Stacie K. Loftus William J. Pavan Kevin M. Brown Matthew H. Law D. Timothy Bishop Jeffrey E. Lee Myriam Brossard Nicholas G. Martin Eric K. Moses Fengju Song Jennifer H. Barrett Rajiv Kumar Douglas F. Easton Paul D.P. Pharoah Anthony J. Swerdlow Katerina P. Kypreou John C. Taylor Mark Harland Juliette Randerson-Moor Lars A. Akslen Per A. Andresen Marie-Françoise Avril Esther Azizi Giovanna Bianchi Scarrà Kevin M. Brown Tadeusz Dȩbniak David L. Duffy David E. Elder Shenying Fang Eitan Friedman Pilar Galan Paola Ghiorzo Elizabeth M. Gillanders Alisa M. Goldstein Nelleke A. Gruis Johan Hansson Per Helsing Marko Hočevar Veronica Höiom Christian Ingvar Peter A. Kanetsky Wei V. Chen Maria Teresa Landi Julie Lang G. Mark Lathrop Jan Lubiński Rona M. Mackie Graham J. Mann Anders Molven Grant W. Montgomery Srdjan Novaković Håkan Olsson Susana Puig Joan Anton Puig-Butille Wenting Wu Abrar A. Qureshi Graham L. Radford-Smith Nienke van der Stoep Remco van Doorn David C. Whiteman Jamie E. Craig Dirk Schadendorf Lisa A. Simms Kathryn P. Burdon Dale R. Nyholt Karen A. Pooley Nick Orr Alexander J. Stratigos Anne E. Cust Sarah V. Ward Nicholas K. Hayward Jiali Han Hans-Joachim Schulze Alison M. Dunning Julia A. Newton Bishop Florence Demenais Christopher I. Amos Stuart MacGregor Mark M. Iles Beatrice B. Barnabas Gerard G. Bouffard Shelis Y. Brooks Holly Coleman Lyudmila Dekhtyar Xiaobin Guan Joel Han Shi-ling Ho Richelle Legaspi Quino L. Maduro Catherine A. Masiello Jennifer C. McDowell Casandra Montemayor James C. Mullikin Morgan Park Nancy L. Riebow Karen Schandler Brian Schmidt Christina Sison Raymond Smith Sirintorn Stantripop
... [+108 authors] ...,
James W. Thomas
Pamela J. Thomas
Meghana Vemulapalli
Alice C. Young

First Published October 17, 2018

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

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

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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

Research

Highly complete long-read genomes reveal pangenomic variation underlying yeast phenotypic diversity

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

Research

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

Research

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

Research

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

Resource

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

Research

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

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Your search for returned 38 results

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In memoriam

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