Not logged in Share Save
Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York Crocker, Kelsey; O'Toole, Jillian; Pearse, Lindsay; Margrill, Jessica; Khan, Asbaa; Chopra, Maya; Innes, A. Micheil; Kainz, Heather; Margrill, Heather; Salazar, Kim; Schwarze, Lauren; Krantz, Ian D. Share Save
CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association Yu, Ruofan; Roseman, Shelby; Siegenfeld, Allison P.; Gardner, Zachary; Nguyen, Son C.; Tran, Khoa A.; Joyce, Eric F.; Jain, Rajan; Liau, Brian B.; Krantz, Ian D.; Alexander, Katherine A. Share Save
Share Save
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M. Share Save
Share Save
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review Wild, K. Taylor; Conlin, Laura; Blair, Justin; Manfredi, Michael; Hamilton, Thomas E.; Muir, Amanda; Zackai, Elaine H.; Nace, Gary; Partridge, Emily A.; Devine, Matthew; Reynolds, Tom; Rintoul, Natalie E.; Hedrick, Holly L.; Spinner, Nancy; Krantz, Ian D. Share Save
Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline Cheng, Keren; Seita, Yasunari; Whelan, Eoin C.; Yokomizo, Ryo; Hwang, Young Sun; Rotolo, Antonia; Krantz, Ian D.; Ginsberg, Jill P.; Kolon, Thomas F.; Lal, Priti; Luo, Xunda; Pierorazio, Phillip M.; Linn, Rebecca L.; Ryeom, Sandra; Sasaki, Kotaro Share Save
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features Ansari, Morad; Faour, Kamli N. W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J. L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stuhn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayioti; Bujakowksa, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tuettelmann, Frank; Conrad, Donald F.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Fitzpatrick, David R.; Boone, Philip M. Share Save
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children Fetta, Anna; Toni, Francesco; Pettenuzzo, Ilaria; Ricci, Emilia; Rocca, Alessandro; Gambi, Caterina; Soliani, Luca; Di Pisa, Veronica; Martini, Silvia; Sperti, Giacomo; Cagnazzo, Valeria; Accorsi, Patrizia; Bartolini, Emanuele; Battaglia, Domenica; Bernardo, Pia; Canevini, Maria Paola; Ferrari, Anna Rita; Giordano, Lucio; Locatelli, Chiara; Mancardi, Margherita; Orsini, Alessandro; Pippucci, Tommaso; Pruna, Dario; Rosati, Anna; Suppiej, Agnese; Tagliani, Sara; Vaisfeld, Alessandro; Vignoli, Aglaia; Izumi, Kosuke; Krantz, Ian; Cordelli, Duccio Maria Share Save
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy Keisling, Julia; Bedoukian, Emma; Burstein, Danielle S.; Gaynor, J. William; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Leonard, Jacqueline; Lin, Kimberly Y.; Medne, Livija; Seymour, Christine; Skraban, Cara; Rippert, Alyssa L.; Ahrens-Nicklas, Rebecca C. Share Save
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield Yamamoto, Nobuko; Balciuniene, Jorune; Hartman, Tiffiney; Diaz-Miranda, Maria Alejandra; Bedoukian, Emma; Devkota, Batsal; Lawrence, Audrey; Golenberg, Netta; Patel, Maha; Tare, Archana; Chen, Robert; Schindler, Emma; Choi, Jiwon; Kaur, Maninder; Charles, Sarah; Chen, Jiani; Fanning, Elizabeth A.; Dechene, Elizabeth; Cao, Kajia; Jill, Murrell R.; Rajagopalan, Ramakrishnan; Bayram, Yavuz; Dulik, Matthew C.; Germiller, John; Conlin, Laura K.; Krantz, Ian D.; Luo, Minjie Share Save
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder 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.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Elgersma, Ype; van Esbroeck, Annelot C. M. Share Save
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition Sheppard, Sarah E.; March, Michael E.; Seiler, Christoph; Matsuoka, Leticia S.; Kim, Sophia E.; Kao, Charlly; Rubin, Adam I.; Battig, Mark R.; Khalek, Nahla; Schindewolf, Erica; O'Connor, Nora; Pinto, Erin; Priestley, Jessica R. C.; Sanders, Victoria R.; Niazi, Rojeen; Ganguly, Arupa; Hou, Cuiping; Slater, Diana; Frieden, Ilona J.; Huynh, Thy; Shieh, Joseph T.; Krantz, Ian D.; Guerrero, Jessenia C.; Surrey, Lea F.; Biko, David M.; Laje, Pablo; Castelo-Soccio, Leslie; Nakano, Taizo A.; Snyder, Kristen; Smith, Christopher L.; Li, Dong; Dori, Yoav; Hakonarson, Hakon Share Save
Potential pitfalls in the use of real-world data for studying long COVID Zhang, Harrison G.; Honerlaw, Jacqueline P.; Maripuri, Monika; Samayamuthu, Malarkodi Jebathilagam; Beaulieu-Jones, Brendin R.; Baig, Huma S.; L'Yi, Sehi; Ho, Yuk-Lam; Morris, Michele; Panickan, Vidul Ayakulangara; Wang, Xuan; Weber, Griffin M.; Liao, Katherine P.; Visweswaran, Shyam; Tan, Bryce W. Q.; Yuan, William; Gehlenborg, Nils; Muralidhar, Sumitra; Ramoni, Rachel B.; Kohane, Isaac S.; Xia, Zongqi; Cho, Kelly; Cai, Tianxi; Brat, Gabriel A.; Aaron, James R.; Agapito, Giuseppe; Albayrak, Adem; Albi, Giuseppe; Alessiani, Mario; Alloni, Anna; Amendola, Danilo F.; Angoulvant, Francois; Anthony, Li L. L. J.; Aronow, Bruce J.; Ashraf, Fatima; Atz, Andrew; Avillach, Paul; Azevedo, Paula S.; Balshi, James; Beaulieu-Jones, Brett K.; Bell, Douglas S.; Bellasi, Antonio; Bellazzi, Riccardo; Benoit, Vincent; Beraghi, Michele; Bernal-Sobrino, Jose Luis; Bernaux, Melodie; Bey, Romain; Bhatnagar, Surbhi; Blanco-Martinez, Alvar; Bonzel, Clara-Lea; Booth, John; Bosari, Silvano; Bourgeois, Florence T.; Bradford, Robert L.; Brat, Gabriel A.; Breant, Stephane; Brown, Nicholas W.; Bruno, Raffaele; Bryant, William A.; Bucalo, Mauro; Bucholz, Emily; Burgun, Anita; Cai, Tianxi; Cannataro, Mario; Carmona, Aldo; Caucheteux, Charlotte; Champ, Julien; Chen, Jin; Chen, Krista Y.; Chiovato, Luca; Chiudinelli, Lorenzo; Cho, Kelly; Cimino, James J.; Colicchio, Tiago K.; Cormont, Sylvie; Cossin, Sebastien; Craig, Jean B.; Luis Cruz-Bermudez, Juan; Cruz-Rojo, Jaime; Dagliati, Arianna; Daniar, Mohamad; Daniel, Christel; Das, Priyam; Devkota, Batsal; Dionne, Audrey; Duan, Rui; Dubiel, Julien; DuVall, Scott L.; Esteve, Loic; Estiri, Hossein; Fan, Shirley; Follett, Robert W.; Ganslandt, Thomas; Garcia-Barrio, Noelia; Garmire, Lana X.; Gehlenborg, Nils; Getzen, Emily J.; Geva, Alon; Gradinger, Tobias; Gramfort, Alexandre; Griffier, Romain; Griffon, Nicolas; Grisel, Olivier; Gutierrez-Sacristan, Alba; Han, Larry; Hanauer, David A.; Haverkamp, Christian; Hazard, Derek Y.; He, Bing; Henderson, Darren W.; Hilka, Martin; Ho, Yuk-Lam; Holmes, John H.; Hong, Chuan; Huling, Kenneth M.; Hutch, Meghan R.; Issitt, Richard W.; Jannot, Anne Sophie; Jouhet, Vianney; Kavuluru, Ramakanth; Keller, Mark S.; Kennedy, Chris J.; Key, Daniel A.; Kirchoff, Katie; Klann, Jeffrey G.; Kohane, Isaac S.; Krantz, Ian D.; Kraska, Detlef; Krishnamurthy, Ashok K.; L'Yi, Sehi; Le, Trang T.; Leblanc, Judith; Lemaitre, Guillaume; Lenert, Leslie; Leprovost, Damien; Liu, Molei; Loh, Ne Hooi Will; Long, Qi; Lozano-Zahonero, Sara; Luo, Yuan; Lynch, Kristine E.; Mahmood, Sadiqa; Maidlow, Sarah E.; Makoudjou, Adeline; Malovini, Alberto; Mandl, Kenneth D.; Mao, Chengsheng; Maram, Anupama; Martel, Patricia; Martins, Marcelo R.; Marwaha, Jayson S.; Masino, Aaron J.; Mazzitelli, Maria; Mensch, Arthur; Milano, Marianna; Minicucci, Marcos F.; Moal, Bertrand; Ahooyi, Taha Mohseni; Moore, Jason H.; Moraleda, Cinta; Morris, Jeffrey S.; Morris, Michele; Moshal, Karyn L.; Mousavi, Sajad; Mowery, Danielle L.; Murad, Douglas A.; Murphy, Shawn N.; Naughton, Thomas P.; Breda Neto, Carlos Tadeu; Neuraz, Antoine; Newburger, Jane; Ngiam, Kee Yuan; Njoroge, Wanjiku F. M.; Norman, James B.; Obeid, Jihad; Okoshi, Marina P.; Olson, Karen L.; Omenn, Gilbert S.; Orlova, Nina; Ostasiewski, Brian D.; Palmer, Nathan P.; Paris, Nicolas; Patel, Lav P.; Pedrera-Jimenez, Miguel; Pfaff, Emily R.; Pfaff, Ashley C.; Pillion, Danielle; Pizzimenti, Sara; Prokosch, Hans U.; Prudente, Robson A.; Prunotto, Andrea; Quiros-Gonzalez, Victor; Ramoni, Rachel B.; Raskin, Maryna; Rieg, Siegbert; Roig-Dominguez, Gustavo; Rojo, Pablo; Rubio-Mayo, Paula; Sacchi, Paolo; Saez, Carlos; Salamanca, Elisa; Samayamuthu, Malarkodi Jebathilagam; Sanchez-Pinto, L. Nelson; Sandrin, Arnaud; Santhanam, Nandhini; Santos, Janaina C. C.; Vidorreta, Fernando J. Sanz; Savino, Maria; Schriver, Emily R.; Schubert, Petra; Schuettler, Juergen; Scudeller, Luigia; Sebire, Neil J.; Serrano-Balazote, Pablo; Serre, Patricia; Serret-Larmande, Arnaud; Shah, Mohsin; Abad, Zahra Shakeri Hossein; Silvio, Domenick; Sliz, Piotr; Son, Jiyeon; Sonday, Charles; South, Andrew M.; Spiridou, Anastasia; Strasser, Zachary H.; Tan, Amelia L. M.; Tan, Bryce W. Q.; Tan, Byorn W. L.; Tanni, Suzana E.; Taylor, Deanne M.; Terriza-Torres, Ana I.; Tibollo, Valentina; Tippmann, Patric; Toh, Emma M. S.; Torti, Carlo; Trecarichi, Enrico M.; Tseng, Yi-Ju; Vallejos, Andrew K.; Varoquaux, Gael; Vella, Margaret E.; Verdy, Guillaume; Vie, Jill-Jenn; Visweswaran, Shyam; Vitacca, Michele; Wagholikar, Kavishwar B.; Waitman, Lemuel R.; Wang, Xuan; Wassermann, Demian; Weber, Griffin M.; Wolkewitz, Martin; Wong, Scott; Xia, Zongqi; Xiong, Xin; Ye, Ye; Yehya, Nadir; Yuan, William; Zambelli, Alberto; Zhang, Harrison G.; Zoller, Daniela; Zuccaro, Valentina; Zucco, Chiara Share Save
Share Save
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss Chen, Robert; Diaz-Miranda, Maria Alejandra; Aref-Eshghi, Erfan; Hartman, Tiffiney R.; Griffith, Christopher; Morrison, Jennifer L.; Wheeler, Patricia G.; Torti, Erin; Richard, Gabriele; Kenna, Margaret; Dechene, Elizabeth T.; Spinner, Nancy B.; Bai, Renkui; Conlin, Laura K.; Krantz, Ian D.; Amr, Sami S.; Luo, Minjie 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
Share Save
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases Katz, Olivia L.; Wild, K. Taylor; McEldrew, Deborah; Kaur, Maninder; Raible, Sarah; Skraban, Cara M.; Zackai, Elaine H.; Medne, Livija; Izumi, Kosuke; Fortunato, Sierra; Weatherly, Jamila; Hartman, Tiffiney; Deppen, Paul; Blair, Justin; Devkota, Batsal; Schindler, Emma; Hedrick, Holly L.; Peranteau, William; Krantz, Ian D. 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}
