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

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Prevention Strategies for All Hospital-Onset Urinary Tract Infections: Best Practice Consensus Recommendations

预防所有医院获得性尿路感染的策略:最佳实践共识建议

Septimus, Edward J; Arya, Lily A; Crapanzano-Sigafoos, Rebecca; Dmochowski, Roger; Dy, Opal; Emer-Seltun, JoAnn; Engberg, Sandra; Garcia, Robert; Gray, Mikel; Kennelly, Michael; Krein, Sarah; Meddings, Jennifer; Murthy, Rekha; Newman, Diane K; Pettis, AnnMarie; Reese, Sara; Sidlow, Emily; Vollman, Kathleen

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

SUPT16H相关神经发育障碍和神经嵴病:遗传和表型谱

Eunhye Lee,Seungmin Sim,Hee-Jung Choi,Eugene Y Liang,Carolyn Le,Roya Bina,Ryan Cohen,Elizabeth George,Soo Yeon Kim,Gifty Bhat,Erin Falsey,Richard Sidlow,Kristin Clinard,Shay Ben-Shachar,Eleina England,Beatriz Menendez,Isabella Herman,Shelly Nielsen,Jaya Punetha,Priya Bhola,J Austin Hamm,Megan A Keeney,Nike Sitzman,Sara Berger,Lakshmi Mehta,Alison J Conn,Lilian Downie,Myla Ashfaq,Hope Northrup,Ange-Line Bruel,Sylvie Odent,Justin O Szot,Noelia Nunez Martinez,Sunju Park,Julie Refkin,Jean-Marc Good,Fabienne Maurer,Cédric Le Caignec,David J Coman,Erin Anderson,Linda J Richards,Ryan J Dean,Caleb Yang,Chulwon Choi,Byung Joon Hwang,Jin Sook Lee,William B Dobyns,Murim Choi,Elliott H Sherr,Jong-Hee Chae,Yun Kee,Emanuela Argilli

CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia

CAPRIN1(细胞周期相关蛋白1)相关神经发育障碍:一种伴有共济失调的新型突变

Civan, Rebecca A; Kottmeier, Jessica; Sidlow, Richard

Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy

统一奥德赛:人工智能在罕见病诊断和治疗中的应用

Ho, Mai-Lan; Zitnik, Marinka; Azachi, Ronen; Basu, Sanjay; Rajpurkar, Pranav; Sidlow, Richard

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

在患有西弗林-希茨-魏斯综合征的个体中发现了一种DNA甲基化谱。

Karimi, Karim; Lichtenstein, Yael; Reilly, Jack; McConkey, Haley; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; Bouman, Arjan; Symonds, Joseph D; Ghoumid, Jamal; Smol, Thomas; Clarkson, Katie; Drazba, Katy; Louie, Raymond J; Miranda, Valancy; McCann, Cathleen; Motta, Jamie; Lancaster, Emily; Sallevelt, Suzanne; Sidlow, Richard; Morrison, Jennifer; Hannibal, Mark; O'Shea, Jessica; Marin, Victor; Prasad, Chitra; Patel, Chirag; Raskin, Salmo; Maria-Noelia, Seco Moro; Diaz de Bustamante, Aranzazú; Marom, Daphna; Barkan, Tali; Keren, Boris; Poirsier, Celine; Cohen, Lior; Colin, Estelle; Gorman, Kathleen; Gallant, Emily; Menke, Leonie A; Valenzuela Palafoll, Irene; Hauser, Natalie; Wentzensen, Ingrid M; Rankin, Julia; Turnpenny, Peter D; Campeau, Philippe M; Balci, Tugce B; Tedder, Matthew L; Sadikovic, Bekim; Weiss, Karin

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