Not logged in Share Save
Performance of MYC, BCL2, and BCL6 break-apart FISH in small biopsies with large B-cell lymphoma: a retrospective Cytopathology Hematopathology Interinstitutional Consortium study Menke, Joshua R.; Aypar, Umut; Bangs, Charles D.; Cook, Stephen L.; Gupta, Srishti; Hasserjian, Robert P.; Kong, Christina S.; Lin, Oscar; Long, Steven R.; Ly, Amy; Menke, Jacob A. S.; Natkunam, Yasodha; Ruiz-Cordero, Roberto; Spiteri, Elizabeth; Ye, Julia; Zadeh, Sara L.; Gratzinger, Dita A. Share Save
Share Save
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana Share Save
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy Parikh, Victoria N.; Ioannidis, Alexander G.; Jimenez-Morales, David; Gorzynski, John E.; De Jong, Hannah N.; Liu, Xiran; Roque, Jonasel; Cepeda-Espinoza, Victoria P.; Osoegawa, Kazutoyo; Hughes, Chris; Sutton, Shirley C.; Youlton, Nathan; Joshi, Ruchi; Amar, David; Tanigawa, Yosuke; Russo, Douglas; Wong, Justin; Lauzon, Jessie T.; Edelson, Jacob; Montserrat, Daniel Mas; Kwon, Yongchan; Rubinacci, Simone; Delaneau, Olivier; Cappello, Lorenzo; Kim, Jaehee; Shoura, Massa J.; Raja, Archana N.; Watson, Nathaniel; Hammond, Nathan; Spiteri, Elizabeth; Mallempati, Kalyan C.; Montero-Martin, Gonzalo; Christle, Jeffrey; Kim, Jennifer; Kirillova, Anna; Seo, Kinya; Huang, Yong; Zhao, Chunli; Moreno-Grau, Sonia; Hershman, Steven G.; Dalton, Karen P.; Zhen, Jimmy; Kamm, Jack; Bhatt, Karan D.; Isakova, Alina; Morri, Maurizio; Ranganath, Thanmayi; Blish, Catherine A.; Rogers, Angela J.; Nadeau, Kari; Yang, Samuel; Blomkalns, Andra; O'Hara, Ruth; Neff, Norma F.; DeBoever, Christopher; Szalma, Sandor; Wheeler, Matthew T.; Gates, Christian M.; Farh, Kyle; Schroth, Gary P.; Febbo, Phil; DeSouza, Francis; Cornejo, Omar E.; Fernandez-Vina, Marcelo; Kistler, Amy; Palacios, Julia A.; Pinsky, Benjamin A.; Bustamante, Carlos D.; Rivas, Manuel A.; Ashley, Euan A. Share Save
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin Share Save
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock Gorzynski, John E.; Goenka, Sneha D.; Shafin, Kishwar; Jensen, Tanner D.; Fisk, Dianna G.; Grove, Megan E.; Spiteri, Elizabeth; Pesout, Trevor; Monlong, Jean; Bernstein, Jonathan A.; Ceresnak, Scott; Chang, Pi-Chuan; Christle, Jeffrey W.; Chubb, Henry; Dunn, Kyla; Garalde, Daniel R.; Guillory, Joseph; Ruzhnikov, Maura R. Z.; Wright, Chris; Wusthoff, Courtney J.; Xiong, Katherine; Hollander, Seth A.; Berry, Gerald J.; Jain, Miten; Sedlazeck, Fritz J.; Carroll, Andrew; Paten, Benedict; Ashley, Euan A. Share Save
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing Goenka, Sneha D.; Gorzynski, John E.; Shafin, Kishwar; Fisk, Dianna G.; Pesout, Trevor; Jensen, Tanner D.; Jean Monlong; Pi-Chuan Chang; Baid, Gunjan; Bernstein, Jonathan A.; Christle, Jeffrey W.; Dalton, Karen P.; Garalde, Daniel R.; Grove, Megan E.; Guillory, Joseph; Kolesnikov, Alexey; Nattestad, Maria; Ruzhnikov, Maura R. Z.; Samadi, Mehrzad; Sethia, Ankit; Spiteri, Elizabeth; Wright, Christopher J.; Xiong, Katherine; Zhu, Tong; Jain, Miten; Sedlazeck, Fritz J.; Carroll, Andrew; Paten, Benedict; Ashley, Euan A. Share Save
Best practices for the interpretation and reporting of clinical genome sequencing Austin-Tse, Chrissy; Jobanputra, Vaidehi; Perry, Denise; Bick, David; Taft, Ryan; Venner, Eric; Gibbs, Richard; Young, Ted; Barnett, Sarah; Belmont, John; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna (Kasia); Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David; Rehman, Atteeq; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton; Rehm, Heidi Share Save
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting Gorzynski, John E.; Goenka, Sneha D.; Shafin, Kishwar; Jensen, Tanner D.; Fisk, Dianna G.; Grove, Megan E.; Spiteri, Elizabeth; Pesout, Trevor; Monlong, Jean; Baid, Gunjan; Bernstein, Jonathan A.; Ceresnak, Scott; Chang, Pi-Chuan; Christle, Jeffrey W.; Chubb, Henry; Dalton, Karen P.; Dunn, Kyla; Garalde, Daniel R.; Guillory, Joseph; Knowles, Joshua W.; Kolesnikov, Alexey; Ma, Michael; Moscarello, Tia; Nattestad, Maria; Perez, Marco; Ruzhnikov, Maura R. Z.; Samadi, Mehrzad; Setia, Ankit; Wright, Chris; Wusthoff, Courtney J.; Xiong, Katherine; Zhu, Tong; Jain, Miten; Sedlazeck, Fritz J.; Carroll, Andrew; Paten, Benedict; Ashley, Euan A. Share Save
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay Melo, Uira Souto; Bonner, Devon; Kent Lloyd, Kevin C.; Moshiri, Ala; Willis, Brandon; Lanoue, Louise; Bower, Lynette; Leonard, Brian C.; Martins, Davi Jardim; Gomes, Fernando; de Souza Leite, Felipe; Oliveira, Danyllo; Kitajima, Joao Paulo; Monteiro, Fabiola P.; Zatz, Mayana; Menck, Carlos Frederico Martins; Wheeler, Matthew T.; Bernstein, Jonathan A.; Dumas, Kevin; Spiteri, Elizabeth; Di Donato, Nataliya; Jahn, Arne; Hashem, Mais; Alsaif, Hessa S.; Chedrawi, Aziza; Alkuraya, Fowzan S.; Kok, Fernando; Byers, Heather M. Share Save
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Legati, Andrea; Giovannini, Donatella; Nicolas, Gael; Lopez-Sanchez, Uriel; Quintans, Beatriz; Oliveira, Joao R. M.; Sears, Renee L.; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, Maria-Jesus; Carracedo, Angel; Castro-Fernandez, Cristina; Cubizolle, Stephanie; Fogel, Brent L.; Goizet, Cyril; Jen, Joanna C.; Kirdlarp, Suppachok; Lang, Anthony E.; Miedzybrodzka, Zosia; Mitarnun, Witoon; Paucar, Martin; Paulson, Henry; Pariente, Jeremie; Richard, Anne-Claire; Salins, Naomi S.; Simpson, Sheila A.; Striano, Pasquale; Svenningsson, Per; Tison, Francois; Unni, Vivek K.; Vanakker, Olivier; Wessels, Marja W.; Wetchaphanphesat, Suppachok; Yang, Michele; Boller, Francois; Campion, Dominique; Hannequin, Dither; Sitbon, Marc; Geschwind, Daniel H.; Battini, Jean-Luc; Coppola, Giovanni Share Save
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice Keller, Annika; Westenberger, Ana; Sobrido, Maria J.; Garcia-Murias, Maria; Domingo, Aloysius; Sears, Renee L.; Lemos, Roberta R.; Ordonez-Ugalde, Andres; Nicolas, Gael; Gomes da Cunha, Jose E.; Rushing, Elisabeth J.; Hugelshofer, Michael; Wurnig, Moritz C.; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobricic, Valerija; Carracedo, Angel; Petrovic, Igor; Miyasaki, Janis M.; Abakumova, Irina; Mae, Maarja Andaloussi; Raschperger, Elisabeth; Zatz, Mayana; Zschiedrich, Katja; Klepper, Jorg; Spiteri, Elizabeth; Prieto, Jose M.; Navas, Inmaculada; Preuss, Michael; Dering, Carmen; Jankovic, Milena; Paucar, Martin; Svenningsson, Per; Saliminejad, Kioomars; Khorshid, Hamid R. K.; Novakovic, Ivana; Aguzzi, Adriano; Boss, Andreas; Le Ber, Isabelle; Defer, Gilles; Hannequin, Didier; Kostic, Vladimir S.; Campion, Dominique; Geschwind, Daniel H.; Coppola, Giovanni; Betsholtz, Christer; Klein, Christine; Oliveira, Joao R. M. Share Save
Foxp2 Regulates Gene Networks Implicated in Neurite Outgrowth in the Developing Brain Vernes, Sonja C.; Oliver, Peter L.; Spiteri, Elizabeth; Lockstone, Helen E.; Puliyadi, Rathi; Taylor, Jennifer M.; Ho, Joses; Mombereau, Cedric; Brewer, Ariel; Lowy, Ernesto; Nicod, Jerome; Groszer, Matthias; Baban, Dilair; Sahgal, Natasha; Cazier, Jean-Baptiste; Ragoussis, Jiannis; Davies, Kay E.; Geschwind, Daniel H.; Fisher, Simon E. Share Save
Share Save
Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain Spiteri, Elizabeth; Konopka, Genevieve; Coppola, Giovanni; Bomar, Jamee; Oldham, Michael; Ou, Jing; Vernes, Sonja C.; Fisher, Simon E.; Ren, Bing; Geschwind, Daniel H. Share Save
Share Save
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway Sims, Ashley E.; Spiteri, Elizabeth; Sims, Robert J., III; Arita, Adriana G.; Lach, Francis P.; Landers, Thomas; Wurm, Melanie; Freund, Marcel; Neveling, Kornelia; Hanenberg, Helmut; Auerbach, Arleen D.; Huang, Tony T. Share Save
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) Oliveira, JRM; Spiteri, E; Sobrido, MJ; Hopfer, S; Klepper, J; Voit, T; Gilbert, J; Wszolek, ZK; Calne, DB; Stoessl, AJ; Hutton, M; Manyam, BV; Boller, F; Baquero, M; Geschwind, DH Share Save
Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
