Shark nanobodies with potent SARS-CoV-2 neutralizing activity and broad sarbecovirus reactivity.
Nature Communications
Chen, Wei-Hung WH; Hajduczki, Agnes A; Martinez, Elizabeth J EJ; Bai, Hongjun H; Matz, Hanover H; Hill, Thomas M TM; Lewitus, Eric E; Chang, William C WC; Dawit, Layla L; Peterson, Caroline E CE; Rees, Phyllis A PA; Ajayi, Adelola B AB; Golub, Emily S ES; Swafford, Isabella I; Dussupt, Vincent V; David, Sapna S; Mayer, Sandra V SV; Soman, Sandrine S; Kuklis, Caitlin C; Corbitt, Courtney C; King, Jocelyn J; Choe, Misook M; Sankhala, Rajeshwer S RS; Thomas, Paul V PV; Zemil, Michelle M; Wieczorek, Lindsay L; Hart, Tricia T; Duso, Debora D; Kummer, Larry L; Yan, Lianying L; Sterling, Spencer L SL; Laing, Eric D ED; Broder, Christopher C CC; Williams, Jazmean K JK; Davidson, Edgar E; Doranz, Benjamin J BJ; Krebs, Shelly J SJ; Polonis, Victoria R VR; Paquin-Proulx, Dominic D; Rolland, Morgane M; Reiley, William W WW; Gromowski, Gregory D GD; Modjarrad, Kayvon K; Dooley, Helen H; Joyce, M Gordon MG
Molecular dynamic simulation suggests stronger interaction of Omicron-spike with ACE2 than wild but weaker than Delta SARS-CoV-2 can be blocked by engineered S1-RBD fraction.
Conformational flexibility in neutralization of SARS-CoV-2 by naturally elicited anti-SARS-CoV-2 antibodies.
Communications Biology
Li, Ruofan R; Mor, Michael M; Ma, Bingting B; Clark, Alex E AE; Alter, Joel J; Werbner, Michal M; Lee, Jamie Casey JC; Leibel, Sandra L SL; Carlin, Aaron F AF; Dessau, Moshe M; Gal-Tanamy, Meital M; Croker, Ben A BA; Xiang, Ye Y; Freund, Natalia T NT
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Nature Communications
Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2022-07-08
Variant appearance in text: TYR: 1336G>A; Gly446Ser
Omicron (BA.1) and sub-variants (BA.1.1, BA.2, and BA.3) of SARS-CoV-2 spike infectivity and pathogenicity: A comparative sequence and structural-based computational assessment.
Journal Of Medical Virology
Kumar, Suresh S; Karuppanan, Kalimuthu K; Subramaniam, Gunasekaran G
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Translational Vision Science & Technology
Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: TYR: 1336G>A; Gly446Ser
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2020-04
Variant appearance in text: TYR: 1336G>A; Gly446Ser
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: TYR: 1336G>A; Gly446Ser; rs104894317
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.
Jci Insight
Adams, David R DR; Menezes, Supriya S; Jauregui, Ramon R; Valivullah, Zaheer M ZM; Power, Bradley B; Abraham, Maria M; Jeffrey, Brett G BG; Garced, Angel A; Alur, Ramakrishna P RP; Cunningham, Denise D; Wiggs, Edythe E; Merideth, Melissa A MA; Chiang, Pei-Wen PW; Bernstein, Shanna S; Ito, Shosuke S; Wakamatsu, Kazumasa K; Jack, Rhona M RM; Introne, Wendy J WJ; Gahl, William A WA; Brooks, Brian P BP
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,