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Nicholas Katsanis
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Displaying results 1-4 of
4
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Research
:
Targeted resequencing identifies
PTCH1
as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Nicolas Chassaing
,
Erica E. Davis
,
Kelly L. McKnight
,
Adrienne R. Niederriter
,
Alexandre Causse
,
Véronique David
,
Annaïck Desmaison
,
Sophie Lamarre
,
Catherine Vincent-Delorme
,
Laurent Pasquier
,
Christine Coubes
,
Didier Lacombe
,
Massimiliano Rossi
,
Jean-Louis Dufier
,
Helene Dollfus
,
Josseline Kaplan
,
Nicholas Katsanis
,
Heather C. Etchevers
,
Stanislas Faguer
,
and
Patrick Calvas
Genome Res.
April 2016
26
:
474
-
485
;
Published in Advance
February 18, 2016
,
doi:
10.1101/gr.196048.115
Abstract
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Erratum
:
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
,
Bruno Dallapiccola
,
Nicholas Katsanis
,
Patrick Cramer
,
and
Christian Kubisch
Genome Res.
April 2015
25
:
609
Extract
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OPEN ACCESS ARTICLE
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Research
:
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
,
Bruno Dallapiccola
,
Nicholas Katsanis
,
Patrick Cramer
,
and
Christian Kubisch
Genome Res.
February 2015
25
:
155
-
166
;
Published in Advance
January 5, 2015
,
doi:
10.1101/gr.176925.114
Abstract
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LETTER
:
The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes
Ken Inoue
,
Ken Dewar
,
Nicholas Katsanis
,
Lawrence T. Reiter
,
Eric S. Lander
,
Keri L. Devon
,
Dudley W. Wyman
,
James R. Lupski
,
and
Bruce Birren
Genome Res.
June 1, 2001
11
:
1018
-
1033
;
doi:
10.1101/gr.180401
Abstract
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