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

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Lessons learned from 5 years of pegvaliase in US clinics: A case series

从美国诊所使用培伐利司他5年的经验教训:病例系列

Cooney, Erin; Ammous, Zineb; Bender, Tricia; Clague, Gillian E; Clifford, Marilyn; Crutcher, Angela; Davis-Keppen, Laura; Havens, Kirsten; Lah, Melissa; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Vucko, Erika; Wardley, Bridget; Wessenberg, Leah; Andersson, Hans C

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

临床基因组测序对全球疑似罕见遗传疾病人群的影响

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

线粒体苏氨酰tRNA合成酶(TARS2)相关疾病的临床、神经放射学和分子特征

Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S; Al-Maawali, Almundher; Srinivasan, Varunvenkat M; Al-Thihli, Khalid; Schaefer, G Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B; Basinger, Alice A; Pedersen, Signe Vandal; Pearson, Toni S; Grange, Dorothy K; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E; Ghezzi, Daniele; Gowda, Vykuntaraju K; Taylor, Robert W; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K; Maroofian, Reza

Novel variants identified in CKAP2L in two siblings with Filippi syndrome

在两名患有菲利皮综合征的同胞中发现了CKAP2L基因的新变异。

Patrick, Ryan J; Weimer, Jill; Davis-Keppen, Laura; Landsverk, Megan L

BRAF V600 Mutation Detection in Plasma Cell-Free DNA: NCCTG N0879 (Alliance)

血浆游离DNA中BRAF V600突变检测:NCCTG N0879(联盟)

Slostad, Jessica A; Liu, Minetta C; Allred, Jacob B; Erickson, Lori A; Rumilla, Kandelaria M; Block, Matthew S; Keppen, Michael; King, David; Markovic, Svetomir N; McWilliams, Robert R

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

SCAF4基因变异会导致神经发育障碍,并与mRNA加工受损有关。

Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

更正:GATAD2B相关神经发育障碍(GAND):对NuRD相关疾病的临床和分子见解

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M Jr; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark

Implementation of a standardized approach to borderline resectable pancreatic cancer in a multisite community oncology program

在多中心社区肿瘤项目中实施针对临界可切除胰腺癌的标准化治疗方案

Bleeker, Jonathan S; Sumey, Christopher J; Powell, Steven F; Steen, Preston D; Keppen, Michael D; Lohr, Michele; Thambi-Pillai, Thavam; Kurniali, Peter; Mazurczak, Miroslaw; Gitau, Mark M; Blanchard, Miran J; Nowak, Ryan K; McGraw, Steven; Sticca, Robert; Tuvin, Daniel; Timmerman, Gary