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Amemiya, Chris T;Alföldi, Jessica;Lee, Alison P;Fan, Shaohua;Philippe, Hervé;Maccallum, Iain;Braasch, Ingo;Manousaki, Tereza;Schneider, Igor;Rohner, Nicolas;Organ, Chris;Chalopin, Domitille;Smith, Jeramiah J;Robinson, Mark;Dorrington, Rosemary A;Gerdol, Marco;Aken, Bronwen;Biscotti, Maria Assunta;Barucca, Marco;Baurain, Denis;Berlin, Aaron M;Blatch, Gregory L;Buonocore, Francesco;Burmester, Thorsten;Campbell, Michael S;Canapa, Adriana;Cannon, John P;Christoffels, Alan;De Moro, Gianluca;Edkins, Adrienne L;Fan, Lin;Fausto, Anna Maria;Feiner, Nathalie;Forconi, Mariko;Gamieldien, Junaid;Gnerre, Sante;Gnirke, Andreas;Goldstone, Jared V;Haerty, Wilfried;Hahn, Mark E;Hesse, Uljana;Hoffmann, Steve;Johnson, Jeremy;Karchner, Sibel I;Kuraku, Shigehiro;Lara, Marcia;Levin, Joshua Z;Litman, Gary W;Mauceli, Evan;Miyake, Tsutomu;Mueller, M Gail;Nelson, David R;Nitsche, Anne;Olmo, Ettore;Ota, Tatsuya;Pallavicini, Alberto;Panji, Sumir;Picone, Barbara;Ponting, Chris P;Prohaska, Sonja J;Przybylski, Dariusz;Saha, Nil Ratan;Ravi, Vydianathan;Ribeiro, Filipe J;Sauka-Spengler, Tatjana;Scapigliati, Giuseppe;Searle, Stephen M J;Sharpe, Ted;Simakov, Oleg;Stadler, Peter F;Stegeman, John J;Sumiyama, Kenta;Tabbaa, Diana;Tafer, Hakim;Turner-Maier, Jason;van Heusden, Peter;White, Simon;Williams, Louise;Yandell, Mark;Brinkmann, Henner;Volff, Jean-Nicolas;Tabin, Clifford J;Shubin, Neil;Schartl, Manfred;Jaffe, David B;Postlethwait, John H;Venkatesh, Byrappa;Di Palma, Federica;Lander, Eric S;Meyer, Axel;Lindblad-Toh, Kerstin
The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably similar to many of its ancient relatives, and it...
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Exome sequencing of a single cohort of 2,871 CHD probands including 2,645 parent-offspring trios implicated rare inherited mutations in 1.8%, including a recessive f...
Amemiya, Chris T;Alföldi, Jessica;Lee, Alison P;Fan, Shaohua;Philippe, Hervé;Maccallum, Iain;Braasch, Ingo;Manousaki, Tereza;Schneider, Igor;Rohner, Nicolas;Organ, Chris;Chalopin, Domitille;Smith, Jeramiah J;Robinson, Mark;Dorrington, Rosemary A;Gerdol, Marco;Aken, Bronwen;Biscotti, Maria Assunta;Barucca, Marco;Baurain, Denis;Berlin, Aaron M;Blatch, Gregory L;Buonocore, Francesco;Burmester, Thorsten;Campbell, Michael S;Canapa, Adriana;Cannon, John P;Christoffels, Alan;De Moro, Gianluca;Edkins, Adrienne L;Fan, Lin;Fausto, Anna Maria;Feiner, Nathalie;Forconi, Mariko;Gamieldien, Junaid;Gnerre, Sante;Gnirke, Andreas;Goldstone, Jared V;Haerty, Wilfried;Hahn, Mark E;Hesse, Uljana;Hoffmann, Steve;Johnson, Jeremy;Karchner, Sibel I;Kuraku, Shigehiro;Lara, Marcia;Levin, Joshua Z;Litman, Gary W;Mauceli, Evan;Miyake, Tsutomu;Mueller, M Gail;Nelson, David R;Nitsche, Anne;Olmo, Ettore;Ota, Tatsuya;Pallavicini, Alberto;Panji, Sumir;Picone, Barbara;Ponting, Chris P;Prohaska, Sonja J;Przybylski, Dariusz;Saha, Nil Ratan;Ravi, Vydianathan;Ribeiro, Filipe J;Sauka-Spengler, Tatjana;Scapigliati, Giuseppe;Searle, Stephen M J;Sharpe, Ted;Simakov, Oleg;Stadler, Peter F;Stegeman, John J;Sumiyama, Kenta;Tabbaa, Diana;Tafer, Hakim;Turner-Maier, Jason;van Heusden, Peter;White, Simon;Williams, Louise;Yandell, Mark;Brinkmann, Henner;Volff, Jean-Nicolas;Tabin, Clifford J;Shubin, Neil;Schartl, Manfred;Jaffe, David B;Postlethwait, John H;Venkatesh, Byrappa;Di Palma, Federica;Lander, Eric S;Meyer, Axel;Lindblad-Toh, Kerstin
The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably similar to many of its ancient relatives, and it...
More than 100 species of venomous cone snails (genus Conus) are highly effective predators of fish. The vast majority of venom components identified and functionally characterized to date are neurotoxins specifically targeted to receptors, ion channe...
Amemiya, Chris T.;Alfoldi, Jessica;Lee, Alison P.;Fan, Shaohua;Philippe, Herve;Maccallum, Iain;Braasch, Ingo;Manousaki, Tereza;Schneider, Igor;Rohner, Nicolas;Organ, Chris;Chalopin, Domitille;Smith, Jeramiah J.;Robinson, Mark;Dorrington, Rosemary A.;Gerdol, Marco;Aken, Bronwen;Biscotti, Maria Assunta;Barucca, Marco;Baurain, Denis;Berlin, Aaron M.;Blatch, Gregory L.;Buonocore, Francesco;Burmester, Thorsten;Campbell, Michael S.;Canapa, Adriana;Cannon, John P.;Christoffels, Alan;De Moro, Gianluca;Edkins, Adrienne L.;Fan, Lin;Fausto, Anna Maria;Feiner, Nathalie;Forconi, Mariko;Gamieldien, Junaid;Gnerre, Sante;Gnirke, Andreas;Goldstone, Jared V.;Haerty, Wilfried;Hahn, Mark E.;Hesse, Uljana;Hoffmann, Steve;Johnson, Jeremy;Karchner, Sibel I.;Kuraku, Shigehiro;Lara, Marcia;Levin, Joshua Z.;Litman, Gary W.;Mauceli, Evan;Miyake, Tsutomu;Mueller, M. Gail;Nelson, David R.;Nitsche, Anne;Olmo, Ettore;Ota, Tatsuya;Pallavicini, Alberto;Panji, Sumir;Picone, Barbara;Ponting, Chris P.;Prohaska, Sonja J.;Przybylski, Dariusz;Saha, Nil Ratan;Ravi, Vydianathan;Ribeiro, Filipe J.;Sauka-Spengler, Tatjana;Scapigliati, Giuseppe;Searle, Stephen M. J.;Sharpe, Ted;Simakov, Oleg;Stadler, Peter F.;Stegeman, John J.;Sumiyama, Kenta;Tabbaa, Diana;Tafer, Hakim;Turner-Maier, Jason;van Heusden, Peter;White, Simon;Williams, Louise;Yandell, Mark;Brinkmann, Henner;Volff, Jean-Nicolas;Tabin, Clifford J.;Shubin, Neil;Schartl, Manfred;Jaffe, David B.;Postlethwait, John H.;Venkatesh, Byrappa;Di Palma, Federica;Lander, Eric S.;Meyer, Axel;Lindblad-Toh, Kerstin
The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably similar to many of its ancient relatives, and it...
We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, an...
Exome sequencing has identified the causes of several Mendelian diseases, although it has rarely been used in a clinical setting to diagnose the genetic cause of an idiopathic disorder in a single patient. We performed exome sequencing on a pedigree ...