Center-Authored Papers

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A
Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M et al..  2015.  Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.. Genetics in medicine : official journal of the American College of Medical Genetics. Abstract
C
Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C et al..  2014.  The complete genome sequence of a Neanderthal from the Altai Mountains.. Nature. 505(7481):43-9. Abstract
E
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP et al..  2015.  Expanding the Molecular and Clinical Phenotype of SSR4-CDG.. Human mutation. Abstract
G
Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J.  2014.  A general framework for estimating the relative pathogenicity of human genetic variants.. Nature genetics. Abstract
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T et al..  2015.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.. American journal of human genetics. Abstract
M
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD et al..  2014.  Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype.. American journal of respiratory and critical care medicine. Abstract
R
Kircher M, Shendure J.  2015.  Running spell-check to identify regulatory variants.. Nature genetics. 47(8):853-5. Abstract