日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

AFF3 不同变异体特异性的病理生理机制对转录组谱的影响各不相同。

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Jamra, Rami Abou; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Falkenberg Smeland, Marie; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; Mccormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpää, Maria K; Pohjola, Pia; Arikka, Harri; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre

Expanding the phenotypic spectrum of ARCN1-related syndrome

扩展ARCN1相关综合征的表型谱

Ritter, Alyssa L; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amélie; Ohl, Jeanine; Kukolich, Mary K; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R; Sullivan, Jennifer A; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C; Izumi, Kosuke

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

HDAC4 中保守的 14-3-3 结合位点的错义突变会导致一种新的智力障碍综合征。

Wakeling, Emma; McEntagart, Meriel; Bruccoleri, Michael; Shaw-Smith, Charles; Stals, Karen L; Wakeling, Matthew; Barnicoat, Angela; Beesley, Clare; Hanson-Kahn, Andrea K; Kukolich, Mary; Stevenson, David A; Campeau, Philippe M; Ellard, Sian; Elsea, Sarah H; Yang, Xiang-Jiao; Caswell, Richard C

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

进一步阐明KAT6B疾病的临床谱系和致病变异的等位基因系列

Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S; Verloes, Alain; Shillington, Amelle G; Izumi, Kosuke; Ritter, Alyssa L; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M; Bedoukian, Emma; Kukolich, Mary K; Innes, A Micheil; Ediae, Grace U; Sawyer, Sarah L; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R; Probst, Frank J; Bassetti, Jennifer A; Sutton, Reid V; Gibbs, Richard A; Brown, Chester; Boone, Philip M; Holm, Ingrid A; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F; Coubes, Christine; Laquerrière, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Millan S; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A; Bosanko, Katherine A; Dieterich, Klaus; Carey, John C; Chong, Jessica X; Nickerson, Deborah A; Bamshad, Michael J; Lee, Brendan H; Yang, Xiang-Jiao; Lupski, James R; Campeau, Philippe M

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

DYRK1A相关智力障碍:一种与肾脏和泌尿系统先天性异常相关的综合征

Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Mohamed Saeed Mohamed Al Shamsi, Aisha; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

KCNC1变异引起的脑病:基因型-表型-功能相关性

Cameron, Jillian M; Maljevic, Snezana; Nair, Umesh; Aung, Ye Htet; Cogné, Benjamin; Bézieau, Stéphane; Blair, Edward; Isidor, Bertrand; Zweier, Christiane; Reis, André; Koenig, Mary Kay; Maarup, Timothy; Sarco, Dean; Afenjar, Alexandra; Huq, A H M Mahbubul; Kukolich, Mary; Billette de Villemeur, Thierry; Nava, Caroline; Héron, Bénédicte; Petrou, Steven; Berkovic, Samuel F

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

NBEA:一种与早期全身性癫痫表型相关的发育性疾病基因

Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P W; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P A; Kukolich, Mary K; Telegrafi, Aida; Lehman, Anna; Lopez-Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolette; Hoffer, Mariette J V; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; Craiu, Dana; Lemke, Johannes R; Korff, Christian; Mefford, Heather C; Meyers, Candace T; Siegler, Zsuzsanna; Hiatt, Susan M; Cooper, Gregory M; Bebin, E Martina; Snijders Blok, Lot; Veenstra-Knol, Hermine E; Baugh, Evan H; Brilstra, Eva H; Volker-Touw, Catharina M L; van Binsbergen, Ellen; Revah-Politi, Anya; Pereira, Elaine; McBrian, Danielle; Pacault, Mathilde; Isidor, Bertrand; Le Caignec, Cedric; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Heinzen, Erin L; Goldstein, David B; Stevens, Servi J C; Sands, Tristan T

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

TBX2 的功能变异与心血管和骨骼发育障碍综合征有关

Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen L Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, E

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Schaaf-Yang综合征的表型谱:来自14个家族的18名新患者

Fountain, Michael D; Aten, Emmelien; Cho, Megan T; Juusola, Jane; Walkiewicz, Magdalena A; Ray, Joseph W; Xia, Fan; Yang, Yaping; Graham, Brett H; Bacino, Carlos A; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A L; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K; Weiss, Marjan M; van Ravenswaaij-Arts, Conny M A; Mathijssen, Inge B; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K; Race, Simone; Stewart, Laura L; Hay, Beverly; Lewis, Andrea M; Guerreiro, Rita L; Bras, Jose T; Martins, Marcia P; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A; Santen, Gijs W E; Schaaf, Christian P