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

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

利用外显子组和转录组测序鉴定疑似罕见遗传病患者的X染色体失活偏倚

Fadra, Numrah; Schultz-Rogers, Laura E; Chanana, Pritha; Cousin, Margot A; Macke, Erica L; Ferrer, Alejandro; Pinto E Vairo, Filippo; Olson, Rory J; Oliver, Gavin R; Mulvihill, Lindsay A; Jenkinson, Garrett; Klee, Eric W

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

INTS11基因的双等位基因变异与一种复杂的神经系统疾病相关。

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J

Cre/ lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration

Cre/lox 调控斑马鱼 UFlip 等位基因的条件性拯救和失活,这些等位基因由 CRISPR-Cas9 靶向整合产生

Fang Liu #, Sekhar Kambakam #, Maira P Almeida #, Zhitao Ming #, Jordan M Welker, Wesley A Wierson, Laura E Schultz-Rogers, Stephen C Ekker, Karl J Clark, Jeffrey J Essner, Maura McGrail

Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis

Rbbp4 缺失破坏了独立于 Rb 的神经祖细胞周期调控,并导致 Tp53 乙酰化和细胞凋亡

Laura E Schultz-Rogers, Michelle L Thayer, Sekhar Kambakam, Wesley A Wierson, Jordan A Helmer, Mark D Wishman, Kristen A Wall, Jessica L Greig, Jaimie L Forsman, Kavya Puchhalapalli, Siddharth Nair, Trevor J Weiss, Jon M Luiken, Patrick R Blackburn, Stephen C Ekker, Marcel Kool, Maura McGrail

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

致病性SPTBN1变异会导致常染色体显性遗传性神经发育综合征。

Margot A Cousin # ,Blake A Creighton # ,Keith A Breau ,Rebecca C Spillmann ,Erin Torti ,Sruthi Dontu ,Swarnendu Tripathi ,Deepa Ajit ,Reginald J Edwards ,Simone Afriyie ,Julia C Bay ,Kathryn M Harper ,Alvaro A Beltran ,Lorena J Munoz ,Liset Falcon Rodriguez ,Michael C Stankewich ,Richard E Person ,Yue Si ,Elizabeth A Normand ,Amy Blevins ,Alison S May ,Louise Bier ,Vimla Aggarwal ,Grazia M S Mancini ,Marjon A van Slegtenhorst ,Kirsten Cremer ,Jessica Becker ,Hartmut Engels ,Stefan Aretz ,Jennifer J MacKenzie ,Eva Brilstra ,Koen L I van Gassen ,Richard H van Jaarsveld ,Renske Oegema ,Gretchen M Parsons ,Paul Mark ,Ingo Helbig ,Sarah E McKeown ,Robert Stratton ,Benjamin Cogne ,Bertrand Isidor ,Pilar Cacheiro ,Damian Smedley ,Helen V Firth ,Tatjana Bierhals ,Katja Kloth ,Deike Weiss ,Cecilia Fairley ,Joseph T Shieh ,Amy Kritzer ,Parul Jayakar ,Evangeline Kurtz-Nelson ,Raphael A Bernier ,Tianyun Wang ,Evan E Eichler ,Ingrid M B H van de Laar ,Allyn McConkie-Rosell ,Marie T McDonald ,Jennifer Kemppainen ,Brendan C Lanpher ,Laura E Schultz-Rogers ,Lauren B Gunderson ,Pavel N Pichurin ,Grace Yoon ,Michael Zech ,Robert Jech ,Juliane Winkelmann ,Michael T Zimmermann ,Brenda Temple ,Sheryl S Moy ,Eric W Klee ,Queenie K-G Tan ,Damaris N Lorenzo

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

UBE2T 中的纯合错义变异与轻度范康尼贫血表型相关

Laura Schultz-Rogers, Francis P Lach, Kimberly A Rickman, Alejandro Ferrer, Abhishek A Mangaonkar, Tanya L Schwab, Christopher T Schmitz, Karl J Clark, Nikita R Dsouza, Michael T Zimmermann, Mark Litzow, Nicole Jacobi, Eric W Klee, Agata Smogorzewska, Mrinal M Patnaik

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍体不足会导致一种神经发育障碍,该障碍与近端1p36缺失综合征重叠,并在女性中伴有X染色体表观遗传特征。

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham, John M Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder, Jimmy Lloyd Jr; Tartaglia, Marco

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B:与广泛的神经发育障碍和癫痫严重程度相关

Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S; Kushary, Sulagna; Akman, Cigdem I; Heinzen, Erin L; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A; Burrage, Lindsay C; Leduc, Magalie S; Chong, Josephine S C; Bend, Renee; Lyons, Michael J; Lee, Jennifer A; Suwannarat, Pim; Brilstra, Eva; Simon, Marleen; Koopmans, Marije; van Binsbergen, Ellen; Groepper, Daniel; Fleischer, Julie; Nava, Caroline; Keren, Boris; Mignot, Cyril; Mathieu, Sophie; Mancini, Grazia M S; Madan-Khetarpal, Suneeta; Infante, Elena M; Bluvstein, Judith; Seeley, Andrea; Bachman, Kristine; Klee, Eric W; Schultz-Rogers, Laura E; Hasadsri, Linda; Barnett, Sarah; Ellingson, Marissa S; Ferber, Matthew J; Narayanan, Vinodh; Ramsey, Keri; Rauch, Anita; Joset, Pascal; Steindl, Katharina; Sheehan, Theodore; Poduri, Annapurna; Vasquez, Alejandra; Ruivenkamp, Claudia; White, Susan M; Pais, Lynn; Monaghan, Kristin G; Goldstein, David B; Sands, Tristan T; Aggarwal, Vimla

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

导致儿童期发病的肌张力障碍的KMT2B变异体造成了独特的基因组高甲基化谱。

Ciolfi, Andrea; Foroutan, Aidin; Capuano, Alessandro; Pedace, Lucia; Travaglini, Lorena; Pizzi, Simone; Andreani, Marco; Miele, Evelina; Invernizzi, Federica; Reale, Chiara; Panteghini, Celeste; Iascone, Maria; Niceta, Marcello; Gavrilova, Ralitza H; Schultz-Rogers, Laura; Agolini, Emanuele; Bedeschi, Maria Francesca; Prontera, Paolo; Garibaldi, Matteo; Galosi, Serena; Leuzzi, Vincenzo; Soliveri, Paola; Olson, Rory J; Zorzi, Giovanna S; Garavaglia, Barbara M; Tartaglia, Marco; Sadikovic, Bekim