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

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

鉴定出KCTD10基因中的新生变异可能是多种先天性异常的病因

Morrow, Michelle M; Torti, Erin; McGivern, Bobbi; Gates, Ryan; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Folk, Leandra; Holtrop, Shannon; Palculict, Timothy Blake; Redlich, Olivia L; Reich, Adi; Guillen Sacoto, Maria J; Shi, Lisong; Wentzensen, Ingrid M; McWalter, Kirsty

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

ClinGen低外显率/风险等位基因工作组关于风险等位基因证据整理、分类和报告的建议

Schmidt, Ryan J; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A; Coe, Bradley P; Conlin, Laura K; Ganapathi, Mythily; Garcia, John; Gollob, Michael H; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; McGoldrick, Kelly; Palculict, T Blake; Pesaran, Tina; Pollin, Toni I; Qian, Emily; Rehm, Heidi L; Riggs, Erin R; Schilit, Samantha L P; Sergouniotis, Panagiotis I; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

SLITRK3 的人类突变与小鼠 GABA 能突触发育有关

Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T Malintan, Muhammad Ilyas, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Faisal Zafar,

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

罕见的EIF4A2变异与一种神经发育障碍有关,其特征是智力障碍、肌张力低下和癫痫。

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein Tobias B Haack, Ulrike; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Jamra, Rami Abou; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性的病理生理机制定义了与SATB1功能障碍相关的不同神经发育障碍。

den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J M; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M; Banka, Siddharth; Bena, Frederique S; Ben-Zeev, Bruria; Bonagura, Vincent R; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G; Chew, Hui B; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B; Parker, Michael; Petersen, Andrea K; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C; Stegmann, Alexander P A; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana H; Schrier Vergano, Samantha A; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E; Vissers, Lisenka E L M

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

KARS1基因的双等位基因变异与神经发育障碍和听力损失相关,这种现象在斑马鱼基因敲除模型中得到了重现。

Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence 2nd; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G; Varshney, Gaurav K

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

EIF3F相关神经发育障碍:完善表型并拓展分子谱

Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; Zacher, Pia; Abou Jamra, Rami; Klöckner, Chiara; McGaughran, Julie; Kohlhase, Jürgen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J Guillen; Henderson, Lindsay B; Palculict, Timothy Blake; Mullegama, Sureni V; Zghal Elloumi, Houda; Reich, Adi; Schrier Vergano, Samantha A; Wahl, Erica; Reis, André; Zweier, Christiane

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

29例ALG13缺陷患者的主要和新发变异:临床描述、生物标志物状态、生化分析和治疗建议

Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary-Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi J L; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Serrano Russi, Alvaro H; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H