Martin Kircher

BMC Biol 2019 11 18;17(1):90. Epub 2019 Nov 18.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

J Inherit Metab Dis 2019 Sep 16;42(5):993-997. Epub 2019 Apr 16.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

Hum Mutat 2019 09 23;40(9):1280-1291. Epub 2019 Jun 23.

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland.

Nat Commun 2019 08 8;10(1):3583. Epub 2019 Aug 8.

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

Nucleic Acids Res 2019 Jan;47(D1):D886-D894

Berlin Institute of Health (BIH), 10178 Berlin, Germany.

Am J Hum Genet 2019 01 13;104(1):35-44. Epub 2018 Dec 13.

Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA. Electronic address:

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

JIMD Rep 2019 17;44:85-92. Epub 2018 Aug 17.

Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

Hum Mutat 2018 06 22;39(6):811-815. Epub 2018 Mar 22.

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

Nat Genet 2018 06 21;50(6):874-882. Epub 2018 May 21.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

Genome Res 2018 05;28(5):766.3

Am J Med Genet A 2017 Nov 29;173(11):2906-2911. Epub 2017 Aug 29.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

Mitochondrion 2017 05 12;34:84-90. Epub 2017 Feb 12.

Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Irvine, CA, USA. Electronic address:

Blood Adv 2017 May 18;1(13):824-834. Epub 2017 May 18.

Bloodworks Northwest, Seattle, WA.

Sci Rep 2017 03 22;7:44585. Epub 2017 Mar 22.

Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.

Genome Res 2017 01 9;27(1):38-52. Epub 2016 Nov 9.

Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.

Am J Med Genet A 2016 12 2;170(12):3165-3171. Epub 2016 Aug 2.

Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.

Genet Med 2016 07 3;18(7):686-95. Epub 2015 Dec 3.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Hum Mutat 2016 07 21;37(7):653-60. Epub 2016 Mar 21.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

JCI Insight 2016 06;1(9)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.

Hum Genet 2016 May 29;135(5):525-540. Epub 2016 Mar 29.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Nature 2016 Feb 17;530(7591):429-33. Epub 2016 Feb 17.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.

Cell 2016 Jan;164(1-2):57-68

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. Electronic address:

Hum Mutat 2015 Nov 27;36(11):1048-51. Epub 2015 Aug 27.

Human Genetics Program, Sanford - Burnham - Prebys Medical Discovery Institute, La Jolla, California.

Am J Med Genet A 2015 Aug 21;167A(8):1796-806. Epub 2015 Apr 21.

Department of Internal Medicine and the Center for Human Nutrition, Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.

Am J Hum Genet 2015 Aug 9;97(2):199-215. Epub 2015 Jul 9.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address:

Nat Genet 2015 Aug;47(8):853-5

Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

Genome Res 2015 Jul 27;25(7):948-57. Epub 2015 Apr 27.

The Jackson Laboratory, Bar Harbor, Maine 04609, USA;

Genome Biol 2015 Mar 19;16:54. Epub 2015 Mar 19.

Max-Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, Leipzig, 04103, Germany.

Cancer Discov 2015 Feb 3;5(2):135-42. Epub 2014 Dec 3.

Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

Stem Cell Res 2014 May 8;12(3):622-9. Epub 2014 Feb 8.

Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany; Department Biology II, Ludwig Maximilian University Munich, D-82152 Martinsried, Germany. Electronic address:

Nat Protoc 2014 May 10;9(5):1056-82. Epub 2014 Apr 10.

Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.

Proc Natl Acad Sci U S A 2014 May 21;111(18):6666-71. Epub 2014 Apr 21.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.

Hum Mol Genet 2014 Mar 11;23(6):1602-5. Epub 2013 Nov 11.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

Nat Genet 2014 Mar 2;46(3):310-5. Epub 2014 Feb 2.

Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

Am J Respir Crit Care Med 2014 Mar;189(6):707-17

1 Department of Medicine.

Nature 2014 Jan 18;505(7481):43-9. Epub 2013 Dec 18.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.

Cell Rep 2014 Jan 16;6(2):285-92. Epub 2014 Jan 16.

Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany. Electronic address:

Bioinformatics 2013 May 6;29(9):1208-9. Epub 2013 Mar 6.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.

Mol Biol Evol 2013 Apr 16;30(4):964-76. Epub 2013 Jan 16.

Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.

Am J Hum Genet 2013 Apr;92(4):632-6

Genetic Disease Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, CA 92037, USA.

Mol Biol Evol 2012 Nov 7;29(11):3451-8. Epub 2012 Jun 7.

Animal Evolution and Development, Institute of Biology, University of Leipzig, Leipzig, Germany.

Science 2012 Oct 30;338(6104):222-6. Epub 2012 Aug 30.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.

Proc Natl Acad Sci U S A 2012 Jul 2;109(29):11836-41. Epub 2012 Jul 2.

Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.

Methods Mol Biol 2012 ;840:197-228

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany.

Nucleic Acids Res 2012 Jan 21;40(1):e3. Epub 2011 Oct 21.

Max Planck Institute for Evolutionary Anthropology, Department of Evolutionary Genetics, 04103 Leipzig, Germany.

Mol Syst Biol 2011 Nov 8;7:548. Epub 2011 Nov 8.

Department for Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, Martinsried, Germany.

Am J Hum Genet 2011 Oct 22;89(4):516-28. Epub 2011 Sep 22.

Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

Nature 2011 Oct 19;478(7369):343-8. Epub 2011 Oct 19.

Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.

BMC Genomics 2011 Jul 29;12:382. Epub 2011 Jul 29.

Max Planck Institute for Evolutionary Anthropology, Department of Evolutionary Genetics Deutscher Platz 6 04103 Leipzig, Germany.

Nature 2010 Dec;468(7327):1053-60

Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

Nucleic Acids Res 2010 Sep 28;38(16):e161. Epub 2010 Jun 28.

Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany.

Bioessays 2010 Jun;32(6):524-36

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.

Cold Spring Harb Protoc 2010 Jun;2010(6):pdb.prot5448

Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.

Science 2010 May;328(5979):710-722

Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.

Nucleic Acids Res 2010 Apr 22;38(6):e87. Epub 2009 Dec 22.

Max-Planck-Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.

Curr Biol 2010 Feb 31;20(3):231-6. Epub 2009 Dec 31.

Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany.

Genome Biol 2009 14;10(8):R83. Epub 2009 Aug 14.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz, 04103 Leipzig, Germany.

BMC Genomics 2008 Jul 23;9:346. Epub 2008 Jul 23.

Max-Planck-Institut für Informatik, Saarbrücken, Germany.