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Farber, James M.; McConkie, Alan B.Optical motions as information for unsigned depthView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance, 5 (1979) 3, Seite 494-500
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Farber, James M.; McConkie, Alan B.Optical motions as information for unsigned depthView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance, 5 (1979) 3, Seite 494-500
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McConkie, Alan B.; Farber, James M.Relation between perceived depth and perceived motion in uniform flow fieldsView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance, 5 (1979) 3, Seite 501-508
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McConkie, Alan B.; Farber, James M.Relation between perceived depth and perceived motion in uniform flow fieldsView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance, 5 (1979) 3, Seite 501-508
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Bradshaw, Merrill Komponist; DeSpain, Lisa Komponist; Díaz, Francisco Estévez Komponist; Lowe, Laurence Komponist; Manookian, Jeff Komponist; McConkie, James Komponist; Pew, Douglas Komponist; Robertson, Leroy Komponist; Sargent, David H. Komponist; Shepherd, Arthur Komponist; Tian, Leilei Komponist; Wickman, Ethan KomponistPiano Recital: Holden, Scott - SHEPHERD, A. / ROBERTSON, L. / BRADSHAW, M. / WICKMAN, E. (The Unknown Galaxy - A Century of Classical Mormon Music)View onlineClose
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Published in: Tantara Records
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Bradshaw, Merrill Komponist; DeSpain, Lisa Komponist; Díaz, Francisco Estévez Komponist; Lowe, Laurence Komponist; Manookian, Jeff Komponist; McConkie, James Komponist; Pew, Douglas Komponist; Sargent, David H. Komponist; Shepherd, Arthur Komponist; Tian, Leilei Komponist; Wickman, Ethan KomponistPiano Recital: Holden, Scott - SHEPHERD, A. / ROBERTSON, L. / BRADSHAW, M. / WICKMAN, E. (The Unknown Galaxy - A Century of Classical Mormon Music)View onlineClose
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Published in: Tantara Records
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Veiga-da-Cunha, Maria; Gerin, Isabelle; Chen, Yuan-Tsong; de Barsy, Thierry; de Lonlay, Pascale; Dionisi-Vici, Carlo; Fenske, Christiane D.; Lee, Philip J.; Leonard, James V.; Maire, Irène; McConkie-Rosell, Allyn; Schweitzer, Susanne; Vikkula, Miikka; Van Schaftingen, EmileA Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and IcView onlineSchließen
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Published in: The American Journal of Human Genetics, 63 (1998) 4, Seite 976-983
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Zhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; [...]Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityView onlineSchließen
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Published in: Human Genetics and Genomics Advances, 3 (2022) 1, Seite 100074
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Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R.; Stray-Pedersen, Asbjorg; Busk, Oyvind L.; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D.; Scaglia, Fernando; Rosenfeld, Jill A.; Tarpinian, Jennifer; Skraban, Cara M.; Deardorff, Matthew A.; Friedman, Jeremy N.; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A.; Kranz, Peter G.; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; [...]A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayView onlineSchließen
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Published in: The American Journal of Human Genetics, 100 (2017) 2, Seite 343-351
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Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N.; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J.; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B.; Hom, Jason; [...]Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceView onlineSchließen
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Published in: Genetics in Medicine, 23 (2021) 2, Seite 259-271
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Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C.; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F.; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany N.; Hopkin, Robert J.; Trimouille, Aurélien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; [...]De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital DefectsView onlineSchließen
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Published in: The American Journal of Human Genetics, 105 (2019) 4, Seite 854-868
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Akula, Shyam K.; Marciano, Jack H.; Lim, Youngshin; Exposito-Alonso, David; Hylton, Norma K.; Hwang, Grace H.; Neil, Jennifer E.; Dominado, Nicole; Bunton-Stasyshyn, Rosie K.; Song, Janet H. T.; Talukdar, Maya; Schmid, Aloisia; Teboul, Lydia; Mo, Alisa; Shin, Taehwan; Finander, Benjamin; Beck, Samantha G.; Yeh, Rebecca C.; Otani, Aoi; Qian, Xuyu; DeGennaro, Ellen M.; Alkuraya, Fowzan S.; Maddirevula, Sateesh; Cascino, Gregory D.; [...]TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous systemView onlineSchließen
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Published in: Proceedings of the National Academy of Sciences, 120 (2023) 4
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Kyle, Jennifer E.; Stratton, Kelly G.; Zink, Erika M.; Kim, Young-Mo; Bloodsworth, Kent J.; Monroe, Matthew E.; Bacino, Carlos A.; Hanchard, Neil A.; Lewis, Richard A.; Rosenfeld, Jill A.; Scott, Daryl A.; Tran, Alyssa A.; Ward, Patricia A.; Burrage, Lindsay C.; Clark, Gary D.; Alejandro, Mercedes E.; Posey, Jennifer E.; Wangler, Michael F.; Lee, Brendan H.; Craigen, William J.; Bellen, Hugo J.; Nicholas, Sarah K.; Bostwick, Bret L.; Samson, Susan L.; [...]A resource of lipidomics and metabolomics data from individuals with undiagnosed diseasesView onlineSchließen
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Published in: Scientific Data, 8 (2021) 1
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Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; [...]Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaView onlineSchließen
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Published in: Neurology Genetics, 4 (2018) 4
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Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D.R.O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; [...]HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderView onlineSchließen
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Published in: The American Journal of Human Genetics, 110 (2023) 8, Seite 1414-1435
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Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsView onlineSchließen
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Published in: Genetics in Medicine, 23 (2021) 4, Seite 740-750
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Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsView onlineSchließen
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Published in: Genetics in Medicine, 23 (2021) 12, Seite 2467
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Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; [...]A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3View onlineSchließen
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Published in: The American Journal of Human Genetics, 111 (2024) 1, Seite 96-118
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Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K G; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C; Alejandro, Mercedes E; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; [...]SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaView onlineSchließen
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Published in: Brain, 146 (2023) 4, Seite 1420-1435
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Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; [...]The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorderView onlineSchließen
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Published in: Human Molecular Genetics, 31 (2022) 17, Seite 2934-2950