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

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种独特的神经发育障碍,其表型范围很广。

Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种新型神经发育障碍,其表型范围很广。

Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo

Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome

SATB2相关综合征中咽弓衍生结构的异常

Zarate, Yuri A; Bosanko, Katherine; Derar, Nada; Fish, Jennifer L

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

SATB2相关综合征的定量表型发病率描述

Zarate, Yuri A; Bosanko, Katherine; Kannan, Amrit; Thomason, Ashlen; Nutt, Beth; Kumar, Nihit; Simmons, Kirt; Hiegert, Aaron; Hartzell, Larry; Johnson, Adam; Prater, Tabitha; Pérez-Palma, Eduardo; Brünger, Tobias; Stefanski, Arthur; Lal, Dennis; Caffrey, Aisling R

Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

病例报告:SATB2相关综合征与线粒体疾病临床表现重叠:两例报告

Zarate, Yuri A; Vernon, Hilary J; Bosanko, Katherine A; Ramani, Praveen K; Gokden, Murat; Writzl, Karin; Meznaric, Marija; Vipotnik Vesnaver, Tina; Ramakrishnaiah, Raghu; Osredkar, Damjan

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

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

影响 p.Met1149、p.Arg1276 和 p.Lys1423 的致病性 NF1 错义变异患者的临床谱:1 型神经纤维瘤病的基因型-表型研究

Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan; Lichty, Angie; Listernick, Robert H; Lyons, Michael J; Maystadt, Isabelle; Martinez Ojeda, Mayra; McDougall, Carey; McGregor, Lesley K; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J M; Ortenberg, June; Panzer, Karin; Pappas, John G; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K; Pond, Dinel A; Powell, Cynthia M; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S Lane; Saletti, Veronica; Sandaradura, Sarah A; Santoro, Claudia; Schatz, Ulrich A; Schreiber, Allison; Scott, Daryl A; Sellars, Elizabeth A; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M; Smith, Rosemarie; Spalice, Alberto; Stockton, David W; Streff, Haley; Theos, Amy; Tomlinson, Gail E; Tran, Grace; Trapane, Pamela L; Trevisson, Eva; Ullrich, Nicole J; Van den Ende, Jenneke; Schrier Vergano, Samantha A; Wallace, Stephanie E; Wangler, Michael F; Weaver, David D; Yohay, Kaleb H; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B M; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

ACTG2基因中精氨酸的反复替换是内脏肌病疾病负担和严重程度的主要驱动因素。

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

SATB2相关综合征的癫痫和脑电图异常

Lewis, Hannah; Samanta, Debopam; Örsell, Jenny-Li; Bosanko, Katherine A; Rowell, Amy; Jones, Melissa; Dale, Russell C; Taravath, Sasidharan; Hahn, Cecil D; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E Martina; Arndt, Daniel H; Alexander, John J; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas M; Raggio, Víctor; Cruz, Marcos; Fernández-Jaén, Alberto; Kava, Maina P; Emrick, Lisa; Fish, Jennifer L; Vanderver, Adeline; Helman, Guy; Pierson, Tyler M; Zarate, Yuri A

Mutation update for the SATB2 gene

SATB2基因突变更新

Zarate, Yuri A; Bosanko, Katherine A; Caffrey, Aisling R; Bernstein, Jonathan A; Martin, Donna M; Williams, Marc S; Berry-Kravis, Elizabeth M; Mark, Paul R; Manning, Melanie A; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H; Estrada-Veras, Juvianee I; van Dooren, Marieke F; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P; Maarup, Timothy J; Alsters, Suzanne Im; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M; Turner, Lesley; Raggio, Víctor; Spangenberg, Lucía; Garcia-Miñaúr, Sixto; Roeder, Elizabeth R; Littlejohn, Rebecca O; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L