المؤلفون: Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)

مصطلحات موضوعية: CNV analysis, Genome sequencing, NPHP1, Retinopathy, SLC66A1, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009804; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212

المؤلفون: Gail Davies, Max Lam, Sarah E. Harris, Joey W. Trampush, Michelle Luciano, W. David Hill, Saskia P. Hagenaars, Stuart J. Ritchie, Riccardo E. Marioni, Chloe Fawns-Ritchie, David C. M. Liewald, Judith A. Okely, Ari V. Ahola-Olli, Catriona L. K. Barnes, Lars Bertram, Joshua C. Bis, Katherine E. Burdick, Andrea Christoforou, Pamela DeRosse, Srdjan Djurovic, Thomas Espeseth, Stella Giakoumaki, Sudheer Giddaluru, Daniel E. Gustavson, Caroline Hayward, Edith Hofer, M. Arfan Ikram, Robert Karlsson, Emma Knowles, Jari Lahti, Markus Leber, Shuo Li, Karen A. Mather, Ingrid Melle, Derek Morris, Christopher Oldmeadow, Teemu Palviainen, Antony Payton, Raha Pazoki, Katja Petrovic, Chandra A. Reynolds, Muralidharan Sargurupremraj, Markus Scholz, Jennifer A. Smith, Albert V. Smith, Natalie Terzikhan, Anbupalam Thalamuthu, Stella Trompet, Sven J. van der Lee, Erin B. Ware, B. Gwen Windham, Margaret J. Wright, Jingyun Yang, Jin Yu, David Ames, Najaf Amin, Philippe Amouyel, Ole A. Andreassen, Nicola J. Armstrong, Amelia A. Assareh, John R. Attia, Deborah Attix, Dimitrios Avramopoulos, David A. Bennett, Anne C. Böhmer, Patricia A. Boyle, Henry Brodaty, Harry Campbell, Tyrone D. Cannon, Elizabeth T. Cirulli, Eliza Congdon, Emily Drabant Conley, Janie Corley, Simon R. Cox, Anders M. Dale, Abbas Dehghan, Danielle Dick, Dwight Dickinson, Johan G. Eriksson, Evangelos Evangelou, Jessica D. Faul, Ian Ford, Nelson A. Freimer, He Gao, Ina Giegling, Nathan A. Gillespie, Scott D. Gordon, Rebecca F. Gottesman, Michael E. Griswold, Vilmundur Gudnason, Tamara B. Harris, Annette M. Hartmann, Alex Hatzimanolis, Gerardo Heiss, Elizabeth G. Holliday, Peter K. Joshi, Mika Kähönen, Sharon L. R. Kardia, Ida Karlsson, Luca Kleineidam, David S. Knopman, Nicole A. Kochan, Bettina Konte, John B. Kwok, Stephanie Le Hellard, Teresa Lee, Terho Lehtimäki, Shu-Chen Li, Christina M. Lill, Tian Liu, Marisa Koini, Edythe London, Will T. Longstreth, Oscar L. Lopez, Anu Loukola, Tobias Luck, Astri J. Lundervold, Anders Lundquist, Leo-Pekka Lyytikäinen, Nicholas G. Martin, Grant W. Montgomery, Alison D. Murray, Anna C. Need, Raymond Noordam, Lars Nyberg, William Ollier, Goran Papenberg, Alison Pattie, Ozren Polasek, Russell A. Poldrack, Bruce M. Psaty, Simone Reppermund, Steffi G. Riedel-Heller, Richard J. Rose, Jerome I. Rotter, Panos Roussos, Suvi P. Rovio, Yasaman Saba, Fred W. Sabb, Perminder S. Sachdev, Claudia L. Satizabal, Matthias Schmid, Rodney J. Scott, Matthew A. Scult, Jeannette Simino, P. Eline Slagboom, Nikolaos Smyrnis, Aïcha Soumaré, Nikos C. Stefanis, David J. Stott, Richard E. Straub, Kjetil Sundet, Adele M. Taylor, Kent D. Taylor, Ioanna Tzoulaki, Christophe Tzourio, André Uitterlinden, Veronique Vitart, Aristotle N. Voineskos, Jaakko Kaprio, Michael Wagner, Holger Wagner, Leonie Weinhold, K. Hoyan Wen, Elisabeth Widen, Qiong Yang, Wei Zhao, Hieab H. H. Adams, Dan E. Arking, Robert M. Bilder, Panos Bitsios, Eric Boerwinkle, Ornit Chiba-Falek, Aiden Corvin, Philip L. De Jager, Stéphanie Debette, Gary Donohoe, Paul Elliott, Annette L. Fitzpatrick, Michael Gill, David C. Glahn, Sara Hägg, Narelle K. Hansell, Ahmad R. Hariri, M. Kamran Ikram, J. Wouter Jukema, Eero Vuoksimaa, Matthew C. Keller, William S. Kremen, Lenore Launer, Ulman Lindenberger, Aarno Palotie, Nancy L. Pedersen, Neil Pendleton, David J. Porteous, Katri Räikkönen, Olli T. Raitakari, Alfredo Ramirez, Ivar Reinvang, Igor Rudan, Dan Rujescu, Reinhold Schmidt, Helena Schmidt, Peter W. Schofield, Peter R. Schofield, John M. Starr, Vidar M. Steen, Julian N. Trollor, Steven T. Turner, Cornelia M. Van Duijn, Arno Villringer, Daniel R. Weinberger, David R. Weir, James F. Wilson, Anil Malhotra, Andrew M. McIntosh, Catharine R. Gale, Sudha Seshadri, Thomas H. Mosley, Jan Bressler, Todd Lencz, Ian J. Deary

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/e636013dbf1f4c4ea3f938024b8a0602

المؤلفون: Gail Davies, Max Lam, Sarah E. Harris, Joey W. Trampush, Michelle Luciano, W. David Hill, Saskia P. Hagenaars, Stuart J. Ritchie, Riccardo E. Marioni, Chloe Fawns-Ritchie, David C. M. Liewald, Judith A. Okely, Ari V. Ahola-Olli, Catriona L. K. Barnes, Lars Bertram, Joshua C. Bis, Katherine E. Burdick, Andrea Christoforou, Pamela DeRosse, Srdjan Djurovic, Thomas Espeseth, Stella Giakoumaki, Sudheer Giddaluru, Daniel E. Gustavson, Caroline Hayward, Edith Hofer, M. Arfan Ikram, Robert Karlsson, Emma Knowles, Jari Lahti, Markus Leber, Shuo Li, Karen A. Mather, Ingrid Melle, Derek Morris, Christopher Oldmeadow, Teemu Palviainen, Antony Payton, Raha Pazoki, Katja Petrovic, Chandra A. Reynolds, Muralidharan Sargurupremraj, Markus Scholz, Jennifer A. Smith, Albert V. Smith, Natalie Terzikhan, Anbupalam Thalamuthu, Stella Trompet, Sven J. van der Lee, Erin B. Ware, B. Gwen Windham, Margaret J. Wright, Jingyun Yang, Jin Yu, David Ames, Najaf Amin, Philippe Amouyel, Ole A. Andreassen, Nicola J. Armstrong, Amelia A. Assareh, John R. Attia, Deborah Attix, Dimitrios Avramopoulos, David A. Bennett, Anne C. Böhmer, Patricia A. Boyle, Henry Brodaty, Harry Campbell, Tyrone D. Cannon, Elizabeth T. Cirulli, Eliza Congdon, Emily Drabant Conley, Janie Corley, Simon R. Cox, Anders M. Dale, Abbas Dehghan, Danielle Dick, Dwight Dickinson, Johan G. Eriksson, Evangelos Evangelou, Jessica D. Faul, Ian Ford, Nelson A. Freimer, He Gao, Ina Giegling, Nathan A. Gillespie, Scott D. Gordon, Rebecca F. Gottesman, Michael E. Griswold, Vilmundur Gudnason, Tamara B. Harris, Annette M. Hartmann, Alex Hatzimanolis, Gerardo Heiss, Elizabeth G. Holliday, Peter K. Joshi, Mika Kähönen, Sharon L. R. Kardia, Ida Karlsson, Luca Kleineidam, David S. Knopman, Nicole A. Kochan, Bettina Konte, John B. Kwok, Stephanie Le Hellard, Teresa Lee, Terho Lehtimäki, Shu-Chen Li, Christina M. Lill, Tian Liu, Marisa Koini, Edythe London, Will T. Longstreth, Oscar L. Lopez, Anu Loukola, Tobias Luck, Astri J. Lundervold, Anders Lundquist, Leo-Pekka Lyytikäinen, Nicholas G. Martin, Grant W. Montgomery, Alison D. Murray, Anna C. Need, Raymond Noordam, Lars Nyberg, William Ollier, Goran Papenberg, Alison Pattie, Ozren Polasek, Russell A. Poldrack, Bruce M. Psaty, Simone Reppermund, Steffi G. Riedel-Heller, Richard J. Rose, Jerome I. Rotter, Panos Roussos, Suvi P. Rovio, Yasaman Saba, Fred W. Sabb, Perminder S. Sachdev, Claudia L. Satizabal, Matthias Schmid, Rodney J. Scott, Matthew A. Scult, Jeannette Simino, P. Eline Slagboom, Nikolaos Smyrnis, Aïcha Soumaré, Nikos C. Stefanis, David J. Stott, Richard E. Straub, Kjetil Sundet, Adele M. Taylor, Kent D. Taylor, Ioanna Tzoulaki, Christophe Tzourio, André Uitterlinden, Veronique Vitart, Aristotle N. Voineskos, Jaakko Kaprio, Michael Wagner, Holger Wagner, Leonie Weinhold, K. Hoyan Wen, Elisabeth Widen, Qiong Yang, Wei Zhao, Hieab H. H. Adams, Dan E. Arking, Robert M. Bilder, Panos Bitsios, Eric Boerwinkle, Ornit Chiba-Falek, Aiden Corvin, Philip L. De Jager, Stéphanie Debette, Gary Donohoe, Paul Elliott, Annette L. Fitzpatrick, Michael Gill, David C. Glahn, Sara Hägg, Narelle K. Hansell, Ahmad R. Hariri, M. Kamran Ikram, J. Wouter Jukema, Eero Vuoksimaa, Matthew C. Keller, William S. Kremen, Lenore Launer, Ulman Lindenberger, Aarno Palotie, Nancy L. Pedersen, Neil Pendleton, David J. Porteous, Katri Räikkönen, Olli T. Raitakari, Alfredo Ramirez, Ivar Reinvang, Igor Rudan, Dan Rujescu, Reinhold Schmidt, Helena Schmidt, Peter W. Schofield, Peter R. Schofield, John M. Starr, Vidar M. Steen, Julian N. Trollor, Steven T. Turner, Cornelia M. Van Duijn, Arno Villringer, Daniel R. Weinberger, David R. Weir, James F. Wilson, Anil Malhotra, Andrew M. McIntosh, Catharine R. Gale, Sudha Seshadri, Thomas H. Mosley, Jan Bressler, Todd Lencz, Ian J. Deary

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/5c177a27f78b4c15af2a914b5490f623

المؤلفون: Max Lam, Joey W. Trampush, Jin Yu, Emma Knowles, Gail Davies, David C. Liewald, John M. Starr, Srdjan Djurovic, Ingrid Melle, Kjetil Sundet, Andrea Christoforou, Ivar Reinvang, Pamela DeRosse, Astri J. Lundervold, Vidar M. Steen, Thomas Espeseth, Katri Räikkönen, Elisabeth Widen, Aarno Palotie, Johan G. Eriksson, Ina Giegling, Bettina Konte, Panos Roussos, Stella Giakoumaki, Katherine E. Burdick, Antony Payton, William Ollier, Ornit Chiba-Falek, Deborah K. Attix, Anna C. Need, Elizabeth T. Cirulli, Aristotle N. Voineskos, Nikos C. Stefanis, Dimitrios Avramopoulos, Alex Hatzimanolis, Dan E. Arking, Nikolaos Smyrnis, Robert M. Bilder, Nelson A. Freimer, Tyrone D. Cannon, Edythe London, Russell A. Poldrack, Fred W. Sabb, Eliza Congdon, Emily Drabant Conley, Matthew A. Scult, Dwight Dickinson, Richard E. Straub, Gary Donohoe, Derek Morris, Aiden Corvin, Michael Gill, Ahmad R. Hariri, Daniel R. Weinberger, Neil Pendleton, Panos Bitsios, Dan Rujescu, Jari Lahti, Stephanie Le Hellard, Matthew C. Keller, Ole A. Andreassen, Ian J. Deary, David C. Glahn, Anil K. Malhotra, Todd Lencz

المصدر: Cell Reports, Vol 21, Iss 9, Pp 2597-2613 (2017)

مصطلحات موضوعية: GWAS, general cognitive ability, nootropics, gene expression, neurodevelopment, synapse, calcium channel, potassium channel, cerebellum, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717316480; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/175db294f4384aa58ea8e8e076c3bded

المؤلفون: Kimberly Pelak, Anna C. Need, Jacques Fellay, Kevin V. Shianna, Sheng Feng, Thomas J. Urban, Dongliang Ge, Andrea De Luca, Javier Martinez-Picado, Steven M. Wolinsky, Jeremy J. Martinson, Beth D. Jamieson, Jay H. Bream, Maureen P. Martin, Persephone Borrow, Norman L. Letvin, Andrew J. McMichael, Barton F. Haynes, Amalio Telenti, Mary Carrington, David B. Goldstein, Galit Alter

المصدر: PLoS Biology, Vol 9, Iss 12 (2011)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242803/?tool=EBI; https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/217ee9a950054636b1c245ccb89b0265

المؤلفون: Anna C. Need, Dongliang Ge, Michael E. Weale, Jessica Maia, Sheng Feng, Erin L. Heinzen, Kevin V. Shianna, Woohyun Yoon, Dalia Kasperavičiūtė, Massimo Gennarelli, Warren J. Strittmatter, Cristian Bonvicini, Giuseppe Rossi, Karu Jayathilake, Philip A. Cola, Joseph P. McEvoy, Richard S. E. Keefe, Elizabeth M. C. Fisher, Pamela L. St. Jean, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Andreas Ruppert, Gillian Fraser, Caroline Crombie, Lefkos T. Middleton, David St. Clair, Allen D. Roses, Pierandrea Muglia, Clyde Francks, Dan Rujescu, Herbert Y. Meltzer, David B. Goldstein

المصدر: PLoS Genetics, Vol 5, Iss 3 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2706743; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/ee8f2989272a41b5b3a23afc4eef806e

المؤلفون: Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المصدر: Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76

مصطلحات موضوعية: Ophthalmology, All institutes and research themes of the Radboud University Medical Center, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507827933b913ead226b13ff8c186891
https://doi.org/10.1016/j.ophtha.2022.07.023

المؤلفون: Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M. Reis, Elena V. Semina, Katherine Lachlan, Kate Chandler, Thomas Wright, Jill Clayton-Smith, Franziska Phan Hug, Nelly Pitteloud, Lucia Bartoloni, Sabine Hoffjan, Soo-Mi Park, Ajay Thankamony, Melissa Lees, Emma Wakeling, Swati Naik, Britta Hanker, Katta M. Girisha, Emanuele Agolini, Zampino Giuseppe, Ziegler Alban, Marine Tessarech, Boris Keren, Alexandra Afenjar, Christiane Zweier, Andre Reis, Thomas Smol, Yoshinori Tsurusaki, Okamoto Nobuhiko, Futoshi Sekiguchi, Naomi Tsuchida, Naomichi Matsumoto, Ikuyo Kou, Yoshiro Yonezawa, Shiro Ikegawa, Bert Callewaert, Megan Freeth, Lotte Kleinendorst, Alan Donaldson, Marielle Alders, Anne De Paepe, Bekim Sadikovic, Alisdair McNeill, Deborah Nickerson, Michael Bamshad, Suzanne Leal, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, null FionaMaleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, null TahrimaRahim, Augusto Rendon, null TimRogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المساهمون: Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis

المصدر: Genetics in medicine, 24(6), 1261-1273. Lippincott Williams and Wilkins
GENETICS IN MEDICINE
Genet Med

مصطلحات موضوعية: EXPRESSION, MUTATIONS, FEATURES, Hypogonadism, disorder, DNA Methylation, Genome sequencing, Methylation, Article, SOXC Transcription Factors, Klinefelter Syndrome, Phenotype, Neurodevelopmental disorder, Neurodevelopmental Disorders, Exome Sequencing, SOX11, Medicine and Health Sciences, Neurodevelopmental, Humans, Exome, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b0e320e882cf61f6d36ec60d62c1a

المؤلفون: Alexandra I. F. Blakemore, Anthony A. James, Marinos Kyriakopoulos, Susanne Marwedel, Mitra S Sato, Clare Borsay, Anna C. Need, Armandina Almanza Gutierrez

المصدر: Psychiatric Genetics. 30:73-82

مصطلحات موضوعية: 0301 basic medicine, Proband, Genetics, Mutation, Psychosis, business.industry, medicine.disease, medicine.disease_cause, Developmental disorder, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Intellectual disability, Medicine, Missense mutation, Family history, business, Exome, 030217 neurology & neurosurgery, Biological Psychiatry, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a963d70fb07884840b37d98a98ecdb9b
https://doi.org/10.1097/ypg.0000000000000253

المؤلفون: null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, business, Truncus arteriosus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1

المؤلفون: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, James B. Rowe, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D. Glass, Andrew B. Singleton, Vincenzo Silani, Owen A. Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M. Resnick, Stuart Pickering-Brown, Christopher B. Brady, Neil Kowal, John A. Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B. Harms, Huw R. Morris, Raffaele Ferrari, John E. Landers, Adriano Chiò, J. Raphael Gibbs, Clifton L. Dalgard, Sonja W. Scholz, Bryan J. Traynor, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel N. Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon D. Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban-Pérez, José Luis Muñoz-Blanco, Zorica Stevic, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Kevin B. Boylan, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García-Redondo, Zheyang Wu, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Christopher E. Shaw, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, H. Brittain, Mark J. Caulfield, Georgia C. Chan, Clare E.H. Craig, Louise C. Daugherty, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió-Tarí, Joanne M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James E. Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, Daniel Perez-Gil, Dimitris Polychronopoulos, John Pullinger, Tahrima Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Ellen R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki, Sampath Arepalli, Pavan Auluck, Robert H. Baloh, Robert Bowser, Alexis Brice, James Broach, William Camu, John Cooper-Knock, Philippe Corcia, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Faraz Faghri, Jennifer Farren, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Stephen A. Goutman, Terry D. Heiman-Patterson, Dena G. Hernandez, Ben Hoover, Lilja Jansson, Freya Kamel, Janine Kirby, Neil W. Kowall, Hannu Laaksovirta, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel JL. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Liisa Myllykangas, Mike A. Nalls, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik Pioro, Stefan M. Pulst, John M. Ravits, Alan E. Renton, Wim Robberecht, Ian Robey, Ekaterina Rogaeva, Jeffrey D. Rothstein, Michael Sendtner, Katie C. Sidle, Zachary Simmons, David J. Stone, Pentti J. Tienari, John Q. Trojanowski, Juan C. Troncoso, Miko Valori, Philip Van Damme, Ludo Van Den Bosch, Lorne Zinman, Diego Albani, Barbara Borroni, Alessandro Padovani, Amalia Bruni, Jordi Clarimon, Oriol Dols-Icardo, Ignacio Illán-Gala, Alberto Lleó, Adrian Danek, Daniela Galimberti, Elio Scarpini, Maria Serpente, Caroline Graff, Huei-Hsin Chiang, Behzad Khoshnood, Linn Öijerstedt, Christopher M. Morris, Benedetta Nacmias, Sandro Sorbi, Jorgen E. Nielsen, Lynne E. Hjermind, Valeria Novelli, Annibale A. Puca, Pau Pastor, Ignacio Alvarez, Monica Diez-Fairen, Miquel Aguilar, Robert Perneczky, Janine Diehl-Schimd, Mina Rossi, Agustin Ruiz, Mercè Boada, Isabel Hernández, Sonia Moreno-Grau, Johannes C. Schlachetzki, Dag Aarsland, Marilyn S. Albert, Johannes Attems, Matthew J. Barrett, Thomas G. Beach, Lynn M. Bekris, David A. Bennett, Lilah M. Besser, Eileen H. Bigio, Sandra E. Black, Bradley F. Boeve, Ryan C. Bohannan, Francesca Brett, Maura Brunetti, Chad A. Caraway, Jose-Alberto Palma, Andrea Calvo, Antonio Canosa, Dennis Dickson, Charles Duyckaerts, Kelley Faber, Tanis Ferman, Margaret E. Flanagan, Gianluca Floris, Tatiana M. Foroud, Juan Fortea, Ziv Gan-Or, Steve Gentleman, Bernardino Ghetti, Jesse Raphael Gibbs, Alison Goate, David Goldstein, Isabel González-Aramburu, Neill R. Graff-Radford, Angela K. Hodges, Heng-Chen Hu, Daniel Hupalo, Jon Infante, Alex Iranzo, Scott M. Kaiser, Horacio Kaufmann, Julia Keith, Ronald C. Kim, Gregory Klein, Rejko Krüger, Walter Kukull, Amanda Kuzma, Carmen Lage, Suzanne Lesage, James B. Leverenz, Giancarlo Logroscino, Grisel Lopez, Seth Love, Qinwen Mao, Maria Jose Marti, Elisa Martinez-McGrath, Mario Masellis, Eliezer Masliah, Patrick May, Ian McKeith, Marek-Marsel Mesulam, Edwin S. Monuki, Kathy L. Newell, Lucy Norcliffe-Kaufmann, Laura Palmer, Matthew Perkins, Olga Pletnikova, Laura Molina-Porcel, Regina H. Reynolds, Eloy Rodríguez-Rodríguez, Jonathan D. Rohrer, Pascual Sanchez-Juan, Clemens R. Scherzer, Geidy E. Serrano, Vikram Shakkottai, Ellen Sidransky, Nahid Tayebi, Alan J. Thomas, Bension S. Tilley, Ronald L. Walton, Randy Woltjer, Zbigniew K. Wszolek, Georgia Xiromerisiou, Chiara Zecca, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Neil A. Shneider, Ernest Fraenkel, Noah Zaitlen, James D. Berry, Andrea Malaspina, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos.A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent Harris, Iris Broce, Vivian Drory, John Ravits, Corey McMillan, Vilas Menon, Lani Wu, Steven Altschuler, Khaled Amar, Neil Archibald, Oliver Bandmann, Erica Capps, Alistair Church, Jan Coebergh, Alyssa Costantini, Peter Critchley, Boyd CP. Ghosh, Michele T.M. Hu, Christopher Kobylecki, P. Nigel Leigh, Carl Mann, Luke A. Massey, Uma Nath, Nicola Pavese, Dominic Paviour, Jagdish Sharma, Jenny Vaughan

المساهمون: HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, Clinicum, Pentti Tienari / Principal Investigator, Parkinson's UK, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Pathology, ANS - Cellular & Molecular Mechanisms, AII - Inflammatory diseases, Universidad de Cantabria, Rowe, James [0000-0001-7216-8679], Apollo - University of Cambridge Repository

المصدر: Dewan, R, Chia, R, Ding, J, Hickman, R A, Stein, T D, Abramzon, Y, Ahmed, S, Sabir, M S, Portley, M K, Tucci, A, Ibáñez, K, Shankaracharya, F N U, Keagle, P, Rossi, G, Caroppo, P, Tagliavini, F, Waldo, M L, Johansson, P M, Nilsson, C F, Adeleye, A, Alba, C, Bacikova, D, Hupalo, D N, Martinez, E M G, Pollard, H B, Sukumar, G, Soltis, A R, Tuck, M, Zhang, X, Wilkerson, M D, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Kost, J, Scotter, E L, Kenna, K P, Miller, J W, Tiloca, C, Vance, C, Danielson, E W, Troakes, C, Colombrita, C, Al-Sarraj, S, Lewis, E A, Nielsen, J E, Hjermind, L E, Reynolds, R H, Rowe, J B, The PROSPECT Consortium, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank 2021, ' Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis ', Neuron, vol. 109, no. 3, pp. 448-460 . https://doi.org/10.1016/j.neuron.2020.11.005
460.e4
Neuron, 109(3), 448-460.e4. Cell Press
Neuron
Neuron, Volume 109, Issue 3, 3 February 2021, Pages 448-460.e4
Neuron, 109(3), 448-460.e4. CELL PRESS
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Neuron, vol 109, iss 3

مصطلحات موضوعية: 0301 basic medicine, Huntington's Disease, Pathology, amyotrophic lateral sclerosis, Huntingtin, Neurology, 1702 Cognitive Sciences, International ALS/FTD Genomics Consortium, Neurodegenerative, frontotemporal dementia, 3124 Neurology and psychiatry, 0302 clinical medicine, Medicine, 2.1 Biological and endogenous factors, Psychology, Amyotrophic lateral sclerosis, Aetiology, Alzheimer's Disease Related Dementias (ADRD), NYGC ALS Consortium, Huntingtin Protein, DNA Repeat Expansion, General Neuroscience, Frontotemporal Dementia (FTD), International FTD Genetics Consortium, whole-genome sequencing, Frontotemporal Dementia, Neurological, Cognitive Sciences, Lewy body dementia, huntingtin, repeat expansions, Amyotrophic Lateral Sclerosis, Humans, Mutation, Whole Genome Sequencing, Frontotemporal dementia, Huntington’s disease, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, FALS Sequencing Consortium, Article, 03 medical and health sciences, Atrophy, Rare Diseases, American Genome Center, Clinical Research, mental disorders, Genetics, Acquired Cognitive Impairment, Dementia, PROSPECT Consortium, Neurology & Neurosurgery, Lewy body, business.industry, International LBD Genomics Consortium, Neurosciences, 3112 Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), nutritional and metabolic diseases, medicine.disease, Brain Disorders, nervous system diseases, 030104 developmental biology, Genomics England Research Consortium, 1701 Psychology, ALS, business, 1109 Neurosciences, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f4dfcf596994f50eb61abdd07587040
http://sro.sussex.ac.uk/id/eprint/95168/1/NEURON-D-20-01249_R3_final.pdf

المؤلفون: Mitra S, Sato, Marinos, Kyriakopoulos, Anthony, James, Susanne, Marwedel, Clare, Borsay, Armandina Almanza, Gutierrez, Alexandra I, Blakemore, Anna C, Need

المصدر: Psychiatric genetics. 30(3)

مصطلحات موضوعية: Adult, Hemizygote, Male, Adolescent, Mutation, Missense, Neural Cell Adhesion Molecule L1, Phenotype, Psychotic Disorders, Mutation, Exome Sequencing, Humans, Exome, Female, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8a9986a57ca82869d65988cf61e4d2b1
https://pubmed.ncbi.nlm.nih.gov/32404617

المؤلفون: Dan Rujescu, Vidar M. Steen, Eva Krapohl, Aarno Palotie, Elisabeth Widen, Ingrid Melle, Patrick Sullivan, Katrina L. Grasby, Stephan Ripke, Anke R. Hammerschlag, Christiaan de Leeuw, Panos Bitsios, Nikos C. Stefanis, Tonya White, Gail Davies, Ahmad R. Hariri, Philip R. Jansen, Peter B. Barr, John M. Starr, Max Lam, Ian J. Deary, Sara Hägg, Dimitrios Avramopoulos, Bettina Konte, Anil K. Malhotra, Delilah Zabaneh, Kjetil Sundet, Tinca J. C. Polderman, Ornit Chiba-Falek, Jakob Kaminski, Danielle M. Dick, Andrea Christoforou, Jin Yu, Gunter Schumann, Matthew A. Scult, Anna C. Need, Jens Hjerling-Leffler, Gonçalo R. Abecasis, Kenneth S. Kendler, Todd Lencz, Dwight Dickinson, Bradley T. Webb, Elizabeth T. Cirulli, Stephanie Le Hellard, Gerome Breen, Astri J. Lundervold, Hannah Young, Erin Burke Quinlan, William Ollier, Nikolaos Smyrnis, Emily Drabant Conley, Danielle Posthuma, Sten Linnarsson, Aristotle N. Voineskos, Edythe D. London, Pamela DeRosse, Russell A. Poldrack, Jonathan R. I. Coleman, Jeanne E. Savage, Sarah E. Medland, Ana B. Muñoz-Manchado, Richard E. Straub, Robert Plomin, Ida K. Karlsson, Nathan G. Skene, Dan E. Arking, Birgit Debrabant, Joey W. Trampush, Matthew C. Keller, Mats Nagel, Gary Donohoe, Chandra A. Reynolds, Panos Roussos, Lene Christiansen, Ivar Reinvang, Ole A. Andreassen, Antony Payton, Robert Karlsson, Margaret J. Wright, Deborah C. Koltai, Jari Lahti, Andreas Heinz, Tyrone D. Cannon, Eliza Congdon, Olav B. Smeland, Stella G. Giakoumaki, Marianne Nygaard, Julien Bryois, M. Arfan Ikram, Nancy L. Pedersen, Katri Räikkönen, Daniel R. Weinberger, Neil Pendleton, Swapnil Awasthi, Sven Stringer, Nelson A. Freimer, Aiden Corvin, Kyoko Watanabe, David C. Glahn, Henning Tiemeier, Grant W. Montgomery, Narelle K. Hansell, Robert M. Bilder, Katherine E. Burdick, Srdjan Djurovic, David C. Liewald, Sophie van der Sluis, Thomas Espeseth, Scott I. Vrieze, Fred W. Sabb, Nicholas G. Martin, Michael Gill, Emma Knowles, Derek W. Morris, Alex Hatzimanolis, Ina Giegling, Johan G. Eriksson

المساهمون: Child and Adolescent Psychiatry / Psychology, Epidemiology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, Functional Genomics, Research Programs Unit, Diabetes and Obesity Research Program, Department of General Practice and Primary Health Care, Johan Eriksson / Principal Investigator, Clinicum, University of Helsinki, Medicum, Helsinki Collegium for Advanced Studies, Department of Psychology and Logopedics, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Elisabeth Ingrid Maria Widen / Principal Investigator, Developmental Psychology Research Group, Genomics of Neurological and Neuropsychiatric Disorders, Genomic Discoveries and Clinical Translation, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, VU University medical center, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Reproduction & Development (AR&D)

المصدر: Nature Genetics, 50(7), 912-+. Nature Publishing Group
Savage, J E, Jansen, P R, Stringer, S, Watanabe, K, Bryois, J, De Leeuw, C A, Nagel, M, Awasthi, S, Barr, P B, Coleman, J R I, Grasby, K L, Hammerschlag, A R, Kaminski, J A, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, C A, Trampush, J W, Young, H, Zabaneh, D, Hägg, S, Hansell, N K, Karlsson, I K, Linnarsson, S, Montgomery, G W, Muñoz-manchado, A B, Quinlan, E B, Schumann, G, Skene, N G, Webb, B T, White, T, Arking, D E, Avramopoulos, D, Bilder, R M, Bitsios, P, Burdick, K E, Cannon, T D, Chiba-falek, O, Christoforou, A, Cirulli, E T, Congdon, E, Corvin, A, Davies, G, Deary, I J, Derosse, P, Dickinson, D, Djurovic, S, Donohoe, G, Conley, E D, Eriksson, J G, Espeseth, T, Freimer, N A, Giakoumaki, S, Giegling, I, Gill, M, Glahn, D C, Hariri, A R, Hatzimanolis, A, Keller, M C, Knowles, E, Koltai, D, Konte, B, Lahti, J, Le Hellard, S, Lencz, T, Liewald, D C, London, E, Lundervold, A J, Malhotra, A K, Melle, I, Morris, D, Need, A C, Ollier, W, Palotie, A, Payton, A, Pendleton, N, Poldrack, R A, Räikkönen, K, Reinvang, I, Roussos, P, Rujescu, D, Sabb, F W, Scult, M A, Smeland, O B, Smyrnis, N, Starr, J M, Steen, V M, Stefanis, N C, Straub, R E, Sundet, K, Tiemeier, H, Voineskos, A N, Weinberger, D R, Widen, E, Yu, J, Abecasis, G, Andreassen, O A, Breen, G, Christiansen, L, Debrabant, B, Dick, D M, Heinz, A, Hjerling-leffler, J, Ikram, M A, Kendler, K S, Martin, N G, Medland, S E, Pedersen, N L, Plomin, R, Polderman, T J C, Ripke, S, Van Der Sluis, S, Sullivan, P F, Vrieze, S I, Wright, M J & Posthuma, D 2018, ' Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence ', Nature Genetics, vol. 50, pp. 912-919 . https://doi.org/10.1038/s41588-018-0152-6
Nature Genetics, 50(7), 912-919. Nature Publishing Group
Savage, J E, Jansen, P R, Stringer, S, Watanabe, K, Bryois, J, de Leeuw, C A, Nagel, M, Awasthi, S, Barr, P B, Coleman, J R I, Grasby, K L, Hammerschlag, A R, Kaminski, J A, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, C A, Trampush, J W, Young, H, Zabaneh, D, Hägg, S, Hansell, N K, Karlsson, I K, Linnarsson, S, Montgomery, G W, Muñoz-Manchado, A B, Quinlan, E B, Schumann, G, Skene, N G, Webb, B T, White, T, Arking, D E, Avramopoulos, D, Bilder, R M, Bitsios, P, Burdick, K E, Cannon, T D, Chiba-Falek, O, Christoforou, A, Cirulli, E T, Congdon, E, Corvin, A, Davies, G, Deary, I J, DeRosse, P, Dickinson, D, Djurovic, S, Donohoe, G, Conley, E D, Eriksson, J G, Espeseth, T, Freimer, N A, Giakoumaki, S, Giegling, I, Gill, M, Glahn, D C, Hariri, A R, Hatzimanolis, A, Keller, M C, Knowles, E, Koltai, D, Konte, B, Lahti, J, Le Hellard, S, Lencz, T, Liewald, D C, London, E, Lundervold, A J, Malhotra, A K, Melle, I, Morris, D, Need, A C, Ollier, W, Palotie, A, Payton, A, Pendleton, N, Poldrack, R A, Räikkönen, K, Reinvang, I, Roussos, P, Rujescu, D, Sabb, F W, Scult, M A, Smeland, O B, Smyrnis, N, Starr, J M, Steen, V M, Stefanis, N C, Straub, R E, Sundet, K, Tiemeier, H, Voineskos, A N, Weinberger, D R, Widen, E, Yu, J, Abecasis, G, Andreassen, O A, Breen, G, Christiansen, L, Debrabant, B, Dick, D M, Heinz, A, Hjerling-Leffler, J, Ikram, M A, Kendler, K S, Martin, N G, Medland, S E, Pedersen, N L, Plomin, R, Polderman, T J C, Ripke, S, van der Sluis, S, Sullivan, P F, Vrieze, S I, Wright, M J & Posthuma, D 2018, ' Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence ', Nature Genetics, vol. 50, no. 7, 0, pp. 912-919 . https://doi.org/10.1038/s41588-018-0152-6
Savage, J E, Jansen, P R, Stringer, S, Watanabe, K, Bryois, J, de Leeuw, C A, Nagel, M, Awasthi, S, Barr, P B, Coleman, J R I, Grasby, K L, Hammerschlag, A R, Kaminski, J A, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, C A, Trampush, J W, Young, H, Zabaneh, D, Hägg, S, Hansell, N K, Karlsson, I K, Linnarsson, S, Montgomery, G W, Muñoz-Manchado, A B, Quinlan, E B, Schumann, G, Skene, N G, Webb, B T, White, T, Arking, D E, Avramopoulos, D, Bilder, R M, Bitsios, P, Burdick, K E, Cannon, T D, Chiba-Falek, O, Christoforou, A, Cirulli, E T, Congdon, E, Corvin, A, Davies, G, Deary, I J, DeRosse, P, Dickinson, D, Djurovic, S, Donohoe, G, Conley, E D, Eriksson, J G, Espeseth, T, Freimer, N A, Giakoumaki, S, Giegling, I, Gill, M, Glahn, D C, Hariri, A R, Hatzimanolis, A, Keller, M C, Knowles, E, Koltai, D, Konte, B, Lahti, J, Le Hellard, S, Lencz, T, Liewald, D C, London, E, Lundervold, A J, Malhotra, A K, Melle, I, Morris, D, Need, A C, Ollier, W, Palotie, A, Payton, A, Pendleton, N, Poldrack, R A, Räikkönen, K, Reinvang, I, Roussos, P, Rujescu, D, Sabb, F W, Scult, M A, Smeland, O B, Smyrnis, N, Starr, J M, Steen, V M, Stefanis, N C, Straub, R E, Sundet, K, Tiemeier, H, Voineskos, A N, Weinberger, D R, Widen, E, Yu, J, Abecasis, G, Andreassen, O A, Breen, G, Christiansen, L, Debrabant, B, Dick, D M, Heinz, A, Hjerling-Leffler, J, Ikram, M A, Kendler, K S, Martin, N G, Medland, S E, Pedersen, N L, Plomin, R, Polderman, T J C, Ripke, S, van der Sluis, S, Sullivan, P F, Vrieze, S I, Wright, M J & Posthuma, D 2018, ' Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence ', Nature Genetics, vol. 50, no. 7, pp. 912-919 . https://doi.org/10.1038/s41588-018-0152-6
Savage, J E, Jansen, P R, Stringer, S, Watanabe, K, Bryois, J, de Leeuw, C A, Nagel, M, Awasthi, S, Barr, P B, Coleman, J R I, Grasby, K L, Hammerschlag, A R, Kaminski, J A, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, C A, Trampush, J W, Young, H, Zabaneh, D, Hägg, S, Hansell, N K, Karlsson, I K, Linnarsson, S, Montgomery, G W, Muñoz-Manchado, A B, Quinlan, E B, Schumann, G, Skene, N G, Webb, B T, White, T, Arking, D E, Avramopoulos, D, Bilder, R M, Bitsios, P, Burdick, K E, Cannon, T D, Chiba-Falek, O, Christoforou, A, Cirulli, E T, Congdon, E, Corvin, A, Davies, G, Deary, I J, DeRosse, P, Dickinson, D, Djurovic, S, Christiansen, L & Debrabant, B 2018, ' Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence ', Nature Genetics, vol. 50, no. 7, pp. 912–919 . https://doi.org/10.1038/s41588-018-0152-6
Savage, J E, Jansen, P R, Stringer, S, Watanabe, K, Bryois, J, De Leeuw, C A, Nagel, M, Awasthi, S, Barr, P B, Coleman, J R I, Grasby, K L, Hammerschlag, A R, Kaminski, J A, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, C A, Trampush, J W, Young, H, Zabaneh, D, Hägg, S, Hansell, N K, Karlsson, I K, Linnarsson, S, Montgomery, G W, Muñoz-Manchado, A B, Quinlan, E B, Schumann, G, Skene, N G, Webb, B T, White, T, Arking, D E, Avramopoulos, D, Bilder, R M, Bitsios, P, Burdick, K E, Cannon, T D, Chiba-Falek, O, Christoforou, A, Cirulli, E T, Congdon, E, Corvin, A, Davies, G, Deary, I J, Derosse, P, Dickinson, D, Djurovic, S, Donohoe, G, Conley, E D, Eriksson, J G, Espeseth, T, Freimer, N A, Giakoumaki, S, Giegling, I, Gill, M, Glahn, D C, Hariri, A R, Hatzimanolis, A, Keller, M C, Knowles, E, Koltai, D, Konte, B, Lahti, J, Le Hellard, S, Lencz, T, Liewald, D C, London, E, Lundervold, A J, Malhotra, A K, Melle, I, Morris, D, Need, A C, Ollier, W, Palotie, A, Payton, A, Pendleton, N, Poldrack, R A, Räikkönen, K, Reinvang, I, Roussos, P, Rujescu, D, Sabb, F W, Scult, M A, Smeland, O B, Smyrnis, N, Starr, J M, Steen, V M, Stefanis, N C, Straub, R E, Sundet, K, Tiemeier, H, Voineskos, A N, Weinberger, D R, Widen, E, Yu, J, Abecasis, G, Andreassen, O A, Breen, G, Christiansen, L, Debrabant, B, Dick, D M, Heinz, A, Hjerling-Leffler, J, Ikram, M A, Kendler, K S, Martin, N G, Medland, S E, Pedersen, N L, Plomin, R, Polderman, T J C, Ripke, S, Van Der Sluis, S, Sullivan, P F, Vrieze, S I, Wright, M J & Posthuma, D 2018, ' Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence ', Nature Genetics, vol. 50, no. 7, pp. 912-919 . https://doi.org/10.1038/s41588-018-0152-6

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Male, GENERAL COGNITIVE FUNCTION, Intelligence, LOCI, Genome-wide association study, ANNOTATION, 0302 clinical medicine, GWAS, 11 Medical and Health Sciences, Genetics & Heredity, RISK, HERITABILITY, Brain, Mendelian Randomization Analysis, Middle Aged, 3. Good health, Schizophrenia, Genome-Wide Association Study/methods, Female, Life Sciences & Biomedicine, TRAITS, Adolescent, Quantitative Trait Loci, Computational biology, Biology, Quantitative trait locus, Brain/physiology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene, Genetic association, EDUCATIONAL-ATTAINMENT, Science & Technology, TEST BATTERIES, CONSORTIUM, Intelligence/genetics, 06 Biological Sciences, medicine.disease, 030104 developmental biology, Expression quantitative trait loci, 3111 Biomedicine, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f01a163caf208bcb9031ce88be260d18
https://doi.org/10.1038/s41588-018-0152-6

المؤلفون: Michael F. Wangler, Zöe Powis, Shinya Yamamoto, Kristen L. Deak, Hugo J. Bellen, Elizabeth A. Worthey, Michelle D. Amaral, Anna C. Need, Peter G. Kranz, Cameron Mroske, Mary K. Kukolich, Ning Liu, Kelly Radtke, David P. Bick, Venkata Hemanjani Bhavana, Vandana Shashi, Shawn Levy, Loren D M Pena, Nicholas Stong, Kelly Schoch, Allyn McConkie-Rosell, M. Louise Markert, Xi Luo, Marie T. McDonald, Sarah Stringer

المصدر: Human Molecular Genetics. 27:2454-2465

مصطلحات موضوعية: Adult, Heart Defects, Congenital, 0301 basic medicine, TBX1, Candidate gene, Developmental Disabilities, Cardiovascular Abnormalities, Haploinsufficiency, Biology, medicine.disease_cause, Cardiovascular System, Craniofacial Abnormalities, Mice, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, DiGeorge syndrome, DiGeorge Syndrome, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Child, Molecular Biology, Zebrafish, Genetics (clinical), Regulation of gene expression, Mutation, Gene Expression Regulation, Developmental, Articles, General Medicine, medicine.disease, Pedigree, Developmental disorder, Disease Models, Animal, Drosophila melanogaster, 030104 developmental biology, Female, T-Box Domain Proteins, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ba8c1e041469310e1c64fa46c0b68e
https://doi.org/10.1093/hmg/ddy146

المؤلفون: Kimberly Pelak, Anna C Need, Jacques Fellay, Kevin V Shianna, Sheng Feng, Thomas J Urban, Dongliang Ge, Andrea De Luca, Javier Martinez-Picado, Steven M Wolinsky, Jeremy J Martinson, Beth D Jamieson, Jay H Bream, Maureen P Martin, Persephone Borrow, Norman L Letvin, Andrew J McMichael, Barton F Haynes, Amalio Telenti, Mary Carrington, David B Goldstein, Galit Alter, NIAID Center for HIV/AIDS Vaccine Immunology

المصدر: PLoS Biology, Vol 9, Iss 11, p e1001208 (2011)

مصطلحات موضوعية: Biology (General), QH301-705.5

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22140359/pdf/?tool=EBI; https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885; https://doaj.org/article/a88a6a17ab4c48cbaa44f406101588bf

الاتاحة: https://doi.org/10.1371/journal.pbio.1001208
https://doaj.org/article/a88a6a17ab4c48cbaa44f406101588bf

المؤلفون: Kimberly Pelak, Kevin V Shianna, Dongliang Ge, Jessica M Maia, Mingfu Zhu, Jason P Smith, Elizabeth T Cirulli, Jacques Fellay, Samuel P Dickson, Curtis E Gumbs, Erin L Heinzen, Anna C Need, Elizabeth K Ruzzo, Abanish Singh, C Ryan Campbell, Linda K Hong, Katharina A Lornsen, Alexander M McKenzie, Nara L M Sobreira, Julie E Hoover-Fong, Joshua D Milner, Ruth Ottman, Barton F Haynes, James J Goedert, David B Goldstein

المصدر: PLoS Genetics, Vol 6, Iss 9, p e1001111 (2010)

مصطلحات موضوعية: Genetics, QH426-470

Relation: http://europepmc.org/articles/PMC2936541?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/11d35ff706624861ad364c3bc6c9cd73

الاتاحة: https://doi.org/10.1371/journal.pgen.1001111
https://doaj.org/article/11d35ff706624861ad364c3bc6c9cd73

المؤلفون: Sreekumar G Pillai, Dongliang Ge, Guohua Zhu, Xiangyang Kong, Kevin V Shianna, Anna C Need, Sheng Feng, Craig P Hersh, Per Bakke, Amund Gulsvik, Andreas Ruppert, Karin C Lødrup Carlsen, Allen Roses, Wayne Anderson, Stephen I Rennard, David A Lomas, Edwin K Silverman, David B Goldstein, ICGN Investigators

المصدر: PLoS Genetics, Vol 5, Iss 3, p e1000421 (2009)

مصطلحات موضوعية: Genetics, QH426-470

Relation: http://europepmc.org/articles/PMC2650282?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/0fd390c869ee4b479764ed3a85e6df94

الاتاحة: https://doi.org/10.1371/journal.pgen.1000421
https://doaj.org/article/0fd390c869ee4b479764ed3a85e6df94

المؤلفون: Anna C Need, Dongliang Ge, Michael E Weale, Jessica Maia, Sheng Feng, Erin L Heinzen, Kevin V Shianna, Woohyun Yoon, Dalia Kasperaviciūte, Massimo Gennarelli, Warren J Strittmatter, Cristian Bonvicini, Giuseppe Rossi, Karu Jayathilake, Philip A Cola, Joseph P McEvoy, Richard S E Keefe, Elizabeth M C Fisher, Pamela L St Jean, Ina Giegling, Annette M Hartmann, Hans-Jürgen Möller, Andreas Ruppert, Gillian Fraser, Caroline Crombie, Lefkos T Middleton, David St Clair, Allen D Roses, Pierandrea Muglia, Clyde Francks, Dan Rujescu, Herbert Y Meltzer, David B Goldstein

المصدر: PLoS Genetics, Vol 5, Iss 2, p e1000373 (2009)

مصطلحات موضوعية: Genetics, QH426-470

Relation: http://europepmc.org/articles/PMC2631150?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/c19e84d31375449d8e0177d2a66e2fc4

الاتاحة: https://doi.org/10.1371/journal.pgen.1000373
https://doaj.org/article/c19e84d31375449d8e0177d2a66e2fc4

المؤلفون: Anna C Need, Dalia Kasperavičiūtė, Elizabeth T Cirulli, David B Goldstein

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://genomebiology.com/content/pdf/gb-2009-10-1-r7.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.360.6076; http://genomebiology.com/content/pdf/gb-2009-10-1-r7.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.360.6076
http://genomebiology.com/content/pdf/gb-2009-10-1-r7.pdf

المؤلفون: Britta J Eickholt, Aminul I Ahmed, Meirion Davies, Evangelia A Papakonstanti, Wayne Pearce, Michelle L Starkey, Antonio Bilancio, Anna C Need, Andrew J H Smith, Susan M Hall, Frank P Hamers, Karl P Giese, Elizabeth J Bradbury, Bart Vanhaesebroeck

المصدر: PLoS ONE, Vol 2, Iss 9, p e869 (2007)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC1959241?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/cae2cd508ba64fa2aff4fed22a507393

الاتاحة: https://doi.org/10.1371/journal.pone.0000869
https://doaj.org/article/cae2cd508ba64fa2aff4fed22a507393