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

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B基因变异会导致一种神经发育障碍,伴有自闭症谱系障碍、失用症和疼痛感觉缺失。

Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina G S; Signer, Rebecca H; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

KMT2E基因的杂合变异会导致一系列神经发育障碍和癫痫。

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J; Duban-Bedu, Benedicte; Dubourg, Christèle; Eiset, Saga Elise; Escobar, Luis F; Ferrarini, Alessandra; Haack, Tobias B; Hashim, Mona; Heide, Solveig; Helbig, Katherine L; Helbig, Ingo; Heredia, Raul; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y; Lavillaureix, Alinoë; Lu, Xin; Maas, Saskia M; Maegawa, Gustavo H B; Marcelis, Carlo L M; Mark, Paul R; Masruha, Marcelo R; McLaughlin, Heather M; McWalter, Kirsty; Melchinger, Esther U; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L P; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Rieß, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A; van der Linden, Helio Jr; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G; Wentzensen, Ingrid M; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

阵发性运动障碍:表型扩展导致基因型融合

Zima, Laura; Ceulemans, Sophia; Reiner, Gail; Galosi, Serena; Chen, Dillon; Sahagian, Michelle; Haas, Richard H; Hyland, Keith; Friedman, Jennifer