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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

Integrating short-read and long-read single-cell RNA sequencing for comprehensive transcriptome profiling in mouse retina

Meng Wang
Yumei Li
Jun Wang
Soo Hwan Oh
Yexuan Cao
Rui Chen

First Published March 6, 2025

Method

CodonBERT large language model for mRNA vaccines

Sizhen Li
Saeed Moayedpour
Ruijiang Li
Michael Bailey
Saleh Riahi
Lorenzo Kogler-Anele Milad Miladi Jacob Miner Fabien Pertuy Dinghai Zheng Jun Wang Akshay Balsubramani Khang Tran Minnie Zacharia Monica Wu Xiaobo Gu Ryan Clinton Carla Asquith Joseph Skaleski Lianne Boeglin Sudha Chivukula Anusha Dias Tod Strugnell
... [+18 authors] ...,
Fernando Ulloa Montoya
Vikram Agarwal
Ziv Bar-Joseph
Sven Jager

First Published July 1, 2024

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

Method

A minimally destructive protocol for DNA extraction from ancient teeth

Éadaoin Harney
Olivia Cheronet
Daniel M. Fernandes
Kendra Sirak
Matthew Mah
Rebecca Bernardos Nicole Adamski Nasreen Broomandkhoshbacht Kimberly Callan Ann Marie Lawson Jonas Oppenheimer Kristin Stewardson Fatma Zalzala Alexandra Anders Francesca Candilio Mihai Constantinescu Alfredo Coppa Ion Ciobanu János Dani Zsolt Gallina Francesco Genchi Emese Gyöngyvér Nagy Tamás Hajdu Magdolna Hellebrandt Antónia Horváth Ágnes Király Krisztián Kiss Barbara Kolozsi Péter Kovács Kitti Köhler Michaela Lucci Ildikó Pap Sergiu Popovici Pál Raczky Angela Simalcsik Tamás Szeniczey Sergey Vasilyev
... [+32 authors] ...,
Cristian Virag
Nadin Rohland
David Reich
Ron Pinhasi

First Published February 12, 2021

Method

Predicting unrecognized enhancer-mediated genome topology by an ensemble machine learning model

Li Tang
Matthew C. Hill
Jun Wang
Jianxin Wang
James F. Martin
Min Li

First Published November 12, 2020

Corrigendum

Corrigendum: Human auditory ossicles as an alternative optimal source of ancient DNA

Kendra Sirak
Daniel Fernandes
Olivia Cheronet
Eadaoin Harney
Matthew Mah
Swapan Mallick Nadin Rohland Nicole Adamski Nasreen Broomandkhoshbacht Kimberly Callan Francesca Candilio Ann Marie Lawson Kirsten Mandl Jonas Oppenheimer Kristin Stewardson Fatma Zalzala Alexandra Anders Juraj Bartík Alfredo Coppa Tumen Dashtseveg Sándor Évinger Zdeněk Farkaš Tamás Hajdu Jamsranjav Bayarsaikhan Lauren McIntyre Vyacheslav Moiseyev Mercedes Okumura Ildikó Pap Michael Pietrusewsky Pál Raczky Alena Šefčáková Andrei Soficaru Tamás Szeniczey Béla Miklós Szőke Dennis Van Gerven
... [+30 authors] ...,
Sergey Vasilyev
Lynne Bell
David Reich
Ron Pinhasi

First Published July 14, 2020

Method

Human auditory ossicles as an alternative optimal source of ancient DNA

Kendra Sirak
Daniel Fernandes
Olivia Cheronet
Eadaoin Harney
Matthew Mah
Swapan Mallick Nadin Rohland Nicole Adamski Nasreen Broomandkhoshbacht Kimberly Callan Francesca Candilio Ann Marie Lawson Kirsten Mandl Jonas Oppenheimer Kristin Stewardson Fatma Zalzala Alexandra Anders Juraj Bartík Alfredo Coppa Tumen Dashtseveg Sándor Évinger Zdeněk Farkaš Tamás Hajdu Jamsranjav Bayarsaikhan Lauren McIntyre Vyacheslav Moiseyev Mercedes Okumura Ildikó Pap Michael Pietrusewsky Pál Raczky Alena Šefčáková Andrei Soficaru Tamás Szeniczey Béla Miklós Szőke Dennis Van Gerven
... [+30 authors] ...,
Sergey Vasilyev
Lynne Bell
David Reich
Ron Pinhasi

First Published February 25, 2020

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

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Your search for returned 44 results

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

Integrating short-read and long-read single-cell RNA sequencing for comprehensive transcriptome profiling in mouse retina

Method

CodonBERT large language model for mRNA vaccines

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Method

A minimally destructive protocol for DNA extraction from ancient teeth

Method

Predicting unrecognized enhancer-mediated genome topology by an ensemble machine learning model

Corrigendum

Corrigendum: Human auditory ossicles as an alternative optimal source of ancient DNA

Method

Human auditory ossicles as an alternative optimal source of ancient DNA

Research

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

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Your search for returned 44 results

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