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

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

利用人工智能驱动的基因型-表观基因型-表型方法解决综合征诊断难题

Mak, Christopher C Y; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K; Pisan, Elise; Chui, Martin M C; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C; Sanchez-Lara, Pedro A; Bombei, Hannah M; Bernat, John A; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clémence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E; Gordon, Christopher T; Doherty, Dan; Krawitz, Peter M; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H Y

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

AB040. Subclinical myasthenia gravis after thymectomy: a 20-year retrospective cohort study

AB040. 胸腺切除术后亚临床重症肌无力:一项20年回顾性队列研究

Balasubramanian, Meena; Dingemans, Alexander J M; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H; Burke, Katherine B; Fry, Andrew E; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S; Vincent, Marie; Isidor, Bertrand; Küry, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske; Marcuse, Florit; Hoeijmakers, Janneke; Abdul Hamid, Myrurgia; Romeo, Jamie; Maessen, Jos; Peeters, Stephanie; Damoiseaux, Jan; Martinez, Pilar; Hochstenbag, Monique; De Baets, Marc

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

短链脱氢酶/还原酶 3 (DHRS3) 缺乏症的鉴定和表征,一种人类视黄酸胚胎病

Hashimoto, Akiko Soneda; Yu, Jianshi; Williams, Christina; Gaudenz, Karin; Varshosaz, Parisa; Zhao, Ruonan; Pilli, Nageswara; Liu, Tian; Russell, Jonathon; Tooze, Rebecca S; Twigg, Stephen R F; Banka, Siddharth; Sweeney, Elizabeth; McGowan, Simon J; Knight, Samantha J L; Taylor, Jenny C; Froukh, Tawfiq Jamal; Palafoll, M Irene Valenzuela; Martínez-Gil, Núria; Costa-Roger, Mar; Villarreal-Molina, Maria Teresa; Lieberman Hernandez, Esther; Abou Jamra, Rami; Gattermann, Felix; Koch-Hogrebe, Margarete; Wieczorek, Dagmar; Trainor, Paul A; Moise, Alexander R; Wilkie, Andrew O M; Kane, Maureen A

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

鲁宾斯坦-泰比综合征的诊断和治疗:首个国际共识声明

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Dominguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David F; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

罕见的预测有害的FEZF2变异与神经发育表型相关

Garber, Alison; Weingarten, Lisa S; Abreu, Nicolas J; Elloumi, Houda Zghal; Haack, Tobias; Hildebrant, Clara; Martínez-Gil, Núria; Mathews, Jennifer; Müller, Amelie Johanna; Valenzuela Palafoll, Irene; Steigerwald, Connolly; Chung, Wendy K

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

预测DIP2C单倍体功能不全的新生变异与表达性语言发育迟缓相关。

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; de Vries, Bert B A; Walsh, Matthew B; Wechsler, Stephanie Burns; Zweier, Christiane; Schnur, Rhonda E; Guillen Sacoto, Maria J; Margot, Henri; Masotto, Barbara; Palafoll, Maria Irene Valenzuela; Nawaz, Urwah; Voineagu, Irina; Slavotinek, Anne

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

全外显子组测序对出生后 1000 天内确诊的 CAKUT 患者的诊断效果和益处

Lina Werfel, Helge Martens, Imke Hennies, Ann Christin Gjerstad, Kerstin Fröde, Gheona Altarescu, Sushmita Banerjee, Irene Valenzuela Palafoll, Robert Geffers, Martin Kirschstein, Anne Christians, Anna Bjerre, Dieter Haffner, Ruthild G Weber