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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.

深度基因组测序揭示了早期人类胎盘中广泛的遗传异质性

Miceikaite Ieva, Fagerberg Christina, Brasch-Andersen Charlotte, Torring Pernille M, Schlott Kristiansen Britta, Hao Qin, Sperling Lene, Larsen Martin J

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

由PGM2L1双等位基因突变引起的葡萄糖-1,6-二磷酸生成受损与神经发育障碍有关。

Morava, Eva; Schatz, Ulrich A; Torring, Pernille M; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T; Van Schaftingen, Emile; Veiga-da-Cunha, Maria

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

BPTF相关神经发育障碍的表型扩展,表现为面部畸形和远端肢体异常

Glinton, Kevin E; Hurst, Anna C E; Bowling, Kevin M; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, Yline; Furlan, Margherita; Gardella, Elena; Møller, Rikke Steensbjerre; van de Beek, Irma; Zuurbier, Linda; Lakeman, Phillis; Bayat, Allan; Martinez, Julian; Signer, Rebecca; Torring, Pernille M; Engelund, Morten Buch; Gripp, Karen W; Amlie-Wolf, Louise; Henderson, Lindsay B; Midro, Alina T; Tarasów, Eugeniusz; Stasiewicz-Jarocka, Beata; Moskal-Jasinska, Diana; Vos, Paul; Boschann, Felix; Stoltenburg, Corinna; Puk, Oliver; Mero, Inger-Lise; Lossius, Kristine; Mignot, Cyril; Keren, Boris; Acosta Guio, Johanna C; Briceño, Ignacio; Gomez, Alberto; Yang, Yaping; Stankiewicz, Pawel

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

扩展ARID1B介导疾病的表型谱并鉴定由于ARID1B单倍体不足引起的细胞周期动力学改变

Sim, Joe C H; White, Susan M; Fitzpatrick, Elizabeth; Wilson, Gabrielle R; Gillies, Greta; Pope, Kate; Mountford, Hayley S; Torring, Pernille M; McKee, Shane; Vulto-van Silfhout, Anneke T; Jhangiani, Shalini N; Muzny, Donna M; Leventer, Richard J; Delatycki, Martin B; Amor, David J; Lockhart, Paul J