All papers authored by Martin Kircher
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Faruk Kapidzic,
Sebastian Röner,
Martin Kircher ,
Michael R Speicher
GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment level
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Henri Niskanen ,
Alexandre P. Magalhaes ,
Shaon Basu ,
Martin Kircher ,
Henrike L. Sczakiel,
Alisa M. V. Reiter ,
Jonas Elsner ,
Peter Meinecke,
Saskia Biskup,
Brian H. Y. Chung,
Gregor Dombrowsky,
Christel Eckmann-Scholz,
Marc Phillip Hitz ,
Alexander Hoischen
and 25 other authors
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
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Daniela Witten,
Gregory M. Cooper ,
Jay Shendure ,
Martin Kircher
CADD: predicting the deleteriousness of variants throughout the human genome
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Kati J. Buckingham,
Deborah A. Nickerson,
Jay Shendure,
Hudson H. Freeze
Download from europepmc.org
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
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Qiaomei Fu,
Hernán A. Burbano,
Carles Lalueza-Fox,
Marco de la Rasilla,
Antonio Rosas,
Pavao Rudan,
Dejana Brajkovic,
Željko Kucan,
Ivan Gušic
and 7 other authors
Ancient gene flow from early modern humans into Eastern Neanderthals
Download from www.nature.com
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Kati J. Buckingham,
Shalini N. Jhangiani,
Corinne Boehm,
Nara Sobreira,
Joshua D. Smith,
Tanya M. Harrell,
Margaret J. McMillin,
Wojciech Wiszniewski,
Tomasz Gambin,
Zeynep H. Coban Akdemir,
Kimberly Doheny,
Alan F. Scott,
Dimitri Avramopoulos,
Aravinda Chakravarti
and 27 other authors
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Download from www.ncbi.nlm.nih.gov
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Anita E. Beck ,
Jessica X. Chong,
Carlos A. Bacino ,
Mahim Jain ,
Yasemin Alanay ,
Susan A. Berry ,
John C. Carey ,
Kati J. Buckingham,
Tanya M. Harrell,
Richard A. Gibbs ,
Colby T. Marvin,
Jay Shendure,
Margaret J. McMillin,
Deborah Krakow
and 57 other authors
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Download from www.biorxiv.org
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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
and 24 other authors
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
Download from genome.cshlp.org
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Martin Kircher ,
Zhisong He ,
Song Guo,
Genevieve L. Fairbrother,
Carlos S. Moreno ,
Philipp Khaitovich,
Mark Stoneking
Evaluating intra- and inter-individual variation in the human placental transcriptome
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Alissa M. D’Gama,
D'Gama Am,
Jian Wang,
Barry Bj,
Brenda J. Barry,
Xiaochang Zhang,
Hill Rs,
Robert Sean Hill,
Partlow Jn,
Jennifer N. Partlow,
Aldo Rozzo,
Sarah Servattalab
and 31 other authors
Somatic Mutations in Cerebral Cortical Malformations
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Susanna Sawyer,
Qiaomei Fu,
Anja Heinze,
Birgit Nickel,
Jesse Dabney,
Michael Siebauer,
Louise White
and 21 other authors
Patterns of coding variation in the complete exomes of three Neandertals
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and 30 other authors
The complete genome sequence of a Neanderthal from the Altai Mountains
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Emily H. Turner,
Miao He,
Joshua D. Smith,
Alexey Eroshkin,
Marta Szybowska,
Marie E. Losfeld,
Jessica X. Chong ,
Mariya Kozenko,
Chumei Li,
Marc C. Patterson ,
Rodney D. Gilbert
and 4 other authors
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
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Udo Stenzel,
Janet Kelso
freeIbis: an efficient basecaller with calibrated quality scores for Illumina sequencers
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