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Publications Authored by Max Schubach | PubFacts
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24Publications

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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Nat Commun 2019 Aug 8;10(1):3583. Epub 2019 Aug 8.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, 94158, USA.

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http://dx.doi.org/10.1038/s41467-019-11526-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687891PMC
August 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.

BMC Bioinformatics 2017 Oct 12;18(1):449. Epub 2017 Oct 12.

Anacleto Lab - Dipartimento di Informatica, Universitá degli Studi di Milano, Via Comelico 39, Milan, 20135, Italy.

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http://dx.doi.org/10.1186/s12859-017-1854-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639780PMC
October 2017

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.

Sci Rep 2017 06 7;7(1):2959. Epub 2017 Jun 7.

Anacletolab, Dipartimento di Informatica, Università degli Studi di Milano, Via Comelico 39, 20135, Milan, Italy.

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http://dx.doi.org/10.1038/s41598-017-03011-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462751PMC
June 2017

Alternate-locus aware variant calling in whole genome sequencing.

Genome Med 2016 12 13;8(1):130. Epub 2016 Dec 13.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.

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http://dx.doi.org/10.1186/s13073-016-0383-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155401PMC
December 2016

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Am J Hum Genet 2016 09 25;99(3):595-606. Epub 2016 Aug 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011059PMC
September 2016

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Hum Mutat 2016 07 15;37(7):711. Epub 2016 Apr 15.

Section for Clinical Neurosciences, Department of Pediatrics, Oslo University Hospital and University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/humu.22997DOI Listing
July 2016

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Hum Mutat 2016 Apr 9;37(4):359-63. Epub 2016 Feb 9.

Section for Clinical Neurosciences, Department of Pediatrics, Oslo University Hospital and University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/humu.22960DOI Listing
April 2016

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Eur J Hum Genet 2015 Mar 18;23(3):409-12. Epub 2014 Jun 18.

1] Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany [2] CeGaT GmbH, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326712PMC
March 2015

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

Mitochondrion 2015 Mar 10;21:12-8. Epub 2015 Jan 10.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2015.01.001DOI Listing
March 2015

Further delineation of the SATB2 phenotype.

Eur J Hum Genet 2014 Aug 4;22(8):1034-9. Epub 2013 Dec 4.

Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350596PMC
August 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Short clones or long clones? A simulation study on the use of paired reads in metagenomics.

BMC Bioinformatics 2010 Jan 18;11 Suppl 1:S12. Epub 2010 Jan 18.

Center for Bioinformatics ZBIT, Tübingen University, Sand 14, 72076 Tübingen, Germany.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1471-2105-11-S1-S12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3009484PMC
January 2010