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Author/Creator Schubach, Max

1. ParSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants. Issue 5 (23rd May 2020)

Authors:
Petrini, Alessandro; Mesiti, Marco; Schubach, Max; Frasca, Marco; Danis, Daniel; Re, Matteo; Grossi, Giuliano; Cappelletti, Luca; Castrignanò, Tiziana; Robinson, Peter N; Valentini, Giorgio
Journal:
GigaScience
Issue:
Volume 9:Issue 5(2020)
Page Start:
Record Type:
Journal Article
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3. Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Issue 9 (23rd June 2019)

Authors:
Shigaki, Dustin; Adato, Orit; Adhikari, Aashish N.; Dong, Shengcheng; Hawkins‐Hooker, Alex; Inoue, Fumitaka; Juven‐Gershon, Tamar; Kenlay, Henry; Martin, Beth; Patra, Ayoti; Penzar, Dmitry D.; Schubach, Max; Xiong, Chenling; Yan, Zhongxia; Boyle, Alan P.; Kreimer, Anat; Kulakovskiy, Ivan V.; Reid...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1280
Record Type:
Journal Article
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4. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Issue 4 (9th February 2016)

Authors:
Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hoesli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Hoeller, Sylvia; Schulzke, Sven; Røsby, Oddveig; Miny, Peter; Tercanli, Sevgi; Oppedal, Truls; Meyer, Peter; Selmer, Kaja Kri...
Journal:
Human mutation
Issue:
Volume 37:Issue 4(2016)
Page Start:
359
Record Type:
Journal Article
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5. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Issue 7 (15th April 2016)

Authors:
Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hoesli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Hoeller, Sylvia; Schulzke, Sven; Røsby, Oddveig; Miny, Peter; Tercanli, Sevgi; Oppedal, Truls; Meyer, Peter; Selmer, Kaja Kri...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
711
Record Type:
Journal Article
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7. Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations. Issue 1 (December 2015)

Authors:
Peveling-Oberhag, Jan; Wolters, Franziska; Döring, Claudia; Walter, Dirk; Sellmann, Ludger; Scholtysik, René; Lucioni, Marco; Schubach, Max; Paulli, Marco; Biskup, Saskia; Zeuzem, Stefan; Küppers, Ralf; Hansmann, Martin-Leo
Journal:
BMC cancer
Issue:
Volume 15:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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