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Your search for returned 35 results

Resource

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

Peng Gao
Xiaotao Shen
Xinyue Zhang
Chao Jiang
Sai Zhang
Xin Zhou
Sophia Miryam Schüssler-Fiorenza Rose
Michael Snyder

First Published June 6, 2022

Method

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez-Palma
Patrick May
Sumaiya Iqbal
Lisa-Marie Niestroj
Juanjiangmeng Du
Henrike O. Heyne Jessica A. Castrillon Anne O'Donnell-Luria
... [+3 authors] ...,
Peter Nürnberg
Aarno Palotie
Mark Daly
Dennis Lal

First Published December 23, 2019

Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

Hagen Tilgner
Fereshteh Jahanbani
Ishaan Gupta
Paul Collier
Eric Wei
Morten Rasmussen
Michael Snyder

First Published December 1, 2017

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

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

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

Resource

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle
Eurie L. Hong
Manoj Hariharan
Yong Cheng
Marc A. Schaub
Maya Kasowski Konrad J. Karczewski Julie Park
... [+3 authors] ...,
Benjamin C. Hitz
Shuai Weng
J. Michael Cherry
Michael Snyder

First Published September 5, 2012

Resource

Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

Jie Wang
Jiali Zhuang
Sowmya Iyer
XinYing Lin
Troy W. Whitfield
Melissa C. Greven Brian G. Pierce Xianjun Dong Anshul Kundaje Yong Cheng Oliver J. Rando Ewan Birney
... [+7 authors] ...,
Richard M. Myers
William S. Noble
Michael Snyder
Zhiping Weng

First Published September 5, 2012

Method

Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements

Anshul Kundaje
Sofia Kyriazopoulou-Panagiotopoulou
Max Libbrecht
Cheryl L. Smith
Debasish Raha
Elliott E. Winters
... [+1 authors] ...,
Steven M. Johnson
Michael Snyder
Serafim Batzoglou
Arend Sidow

First Published September 5, 2012

Research

A highly integrated and complex PPARGC1A transcription factor binding network in HepG2 cells

Alexandra E. Charos
Brian D. Reed
Debasish Raha
Anna M. Szekely
Sherman M. Weissman
Michael Snyder

First Published September 5, 2012

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