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by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
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Journal Article
by Scholten, Olaf and van den Berg, Aiaan and Las Cumbres Observatory Grp and ATCA Australia Telescope and LIGO Sci Collaboration & Virgo and KU Collaboration and GROUND and RIMAS RATIR and AGILE Team and ASKAP Australian SKA Pathfinder and IPN Collaboration and LOFAR Collaboration and Salt Grp and VINROUGE Collaboration and Nordic Optical Telescope and MAXI Team and Fermi GBM and Fermi Large Area Telescope and J-GEM and IceCube Collaboration and BOOTES Collaboration and Pi Sky Collaboration and Pan-STARRS and LWA Long Wavelength Array and SKA South Africa MeerKAT and CALET Collaboration and AstroSat Cadmium Zinc Telluride and HAWC Collaboration and GROWTH JAGWAR CALTECH and ATLAS and ePESSTO and DFN Desert Fireball Network and Insight-Hxmt Collaboration and Texas Tech Univ and MASTER Collaboration and TZAC Consortium and Dark Energy Camera GW-EM and GRAWITA GRAvitational Wave and INTERGRAL and Toros Transient Robotic Observat and Chandra Team McGill Univ and H E S S Collaboration and Swift Collaboration and Pierre Auger Collaboration and OzGrav DWF Deeper Wider Faster and IKI-GW Follow-up Collaboration and Euro VLBI Team and High Time Resolution Universe and ANTARES Collaboration and DLT40 Collaboration and ALMA Collaboration and The 1M2H Team and MWA Murchison Widefield Array and The Insight-HXMT Collaboration and The MAXI Team and The Swift Collaboration and The Fermi Large Area Telescope Collaboration and GROND and TOROS: Transient Robotic Observatory of the South Collaboration and Texas Tech University and OzGrav, DWF (Deeper, Wider, Faster program), AST3, and CAASTRO Collaborations and MWA: Murchison Widefield Array and GROWTH, JAGWAR, Caltech-NRAO, TTU-NRAO, and NuSTAR Collaborations and INTEGRAL and RIMAS and RATIR and Pi of the Sky Collaboration and The Chandra Team at McGill University and LWA: Long Wavelength Array and The DLT40 Collaboration and DFN: Desert Fireball Network and LIGO Scientific Collaboration and Virgo Collaboration and ASKAP: Australian SKA Pathfinder and AstroSat Cadmium Zinc Telluride Imager Team and The BOOTES Collaboration and The Pierre Auger Collaboration and ATCA: Australia Telescope Compact Array and SALT Group and H.E.S.S. Collaboration and The Dark Energy Camera GW-EM Collaboration and the DES Collaboration and High Time Resolution Universe Survey and Las Cumbres Observatory Group and GRAWITA: GRAvitational Wave Inaf TeAm and The VINROUGE Collaboration and The CALET Collaboration and SLAC National Accelerator Lab., Menlo Park, CA (United States) and Brookhaven National Lab. (BNL), Upton, NY (United States) and Los Alamos National Lab. (LANL), Los Alamos, NM (United States) and Fermi National Accelerator Lab. (FNAL), Batavia, IL (United States) and Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States) and Lawrence Berkeley National Laboratory-National Energy Research Scientific Computing Center (NERSC) and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States) and Fysikum and Naturvetenskapliga fakulteten and Institutionen för astronomi and Stockholms universitet and Oskar Klein-centrum för kosmopartikelfysik (OKC)
Astrophysical Journal Letters, ISSN 2041-8205, 10/2017, Volume 848, Issue 2, p. L12
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Molecular Genetics and Genomics, ISSN 1617-4615, 8/2019, Volume 294, Issue 4, pp. 1001 - 1006
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Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
MICE | MUTATIONS | GENE | DYNEIN | GENETICS & HEREDITY | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes | Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2011, Volume 365, Issue 1, pp. 54 - 61
Journal Article
medizinische genetik, ISSN 0936-5931, 6/2019, Volume 31, Issue 2, pp. 185 - 190
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Journal Article