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

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

纤毛功能障碍在 16p11.2 600 kb BP4-BP5 病理中的潜在作用

Eugenia Migliavacca ,Christelle Golzio ,Katrin Männik ,Ian Blumenthal ,Edwin C Oh ,Louise Harewood ,Jack A Kosmicki ,Maria Nicla Loviglio ,Giuliana Giannuzzi ,Loyse Hippolyte ,Anne M Maillard ,Ali Abdullah Alfaiz ,Joris Andrieux ,James F Gusella ,Mark J Daly ,Jacques S Beckmann ,Sébastien Jacquemont ,Michael E Talkowski ,Nicholas Katsanis ,Alexandre Reymond

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

SCRIB 和 PUF60 是 8q24.3 拷贝数变异多系统表型的主要驱动因素

Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J M Nowaczyk, Jill A Rosenfeld, Susan Zeesman, Janice Zunich, Jacques S Beckmann, Joel N Hirschhorn, Michelle L Hastings, Sebastien Jacquemont, Nicholas

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

KCTD13 是 16p11.2 拷贝数变异镜像神经解剖表型的主要驱动因素

Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella, Atsushi Kamiya, Jacques S Beckmann, Nicholas Katsanis

The phenotype of recurrent 10q22q23 deletions and duplications

复发性 10q22q23 缺失和重复的表型

Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angel

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

硫酸肝素蛋白聚糖 6 (GPC6) 突变会损害软骨内骨化并导致隐性肌骨发育不良

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U Borochowitz, A Micheil Innes, Sheila Unger, Jacques S Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafé

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

内含子重复元素内的单碱基替换导致显性视网膜色素变性,渗透性降低

Thomas Rio Frio, Terri L McGee, Nicholas M Wade, Christian Iseli, Jacques S Beckmann, Eliot L Berson, Carlo Rivolta

Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing

转录因子 CTF1 充当染色质域边界,保护人类端粒基因免于沉默

Germain Esnault, Stefano Majocchi, Danielle Martinet, Nathalie Besuchet-Schmutz, Jacques S Beckmann, Nicolas Mermod

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

对 28,141 名个体的荟萃分析确定了影响尿酸浓度的五个新基因座内的常见变异

Melanie Kolz, Toby Johnson, Serena Sanna, Alexander Teumer, Veronique Vitart, Markus Perola, Massimo Mangino, Eva Albrecht, Chris Wallace, Martin Farrall, Asa Johansson, Dale R Nyholt, Yurii Aulchenko, Jacques S Beckmann, Sven Bergmann, Murielle Bochud, Morris Brown, Harry Campbell; EUROSPAN Consort

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

PRPF31 中的过早终止密码子通过无义介导的 mRNA 衰变导致单倍体不足,从而导致视网膜色素变性

Thomas Rio Frio, Nicholas M Wade, Adriana Ransijn, Eliot L Berson, Jacques S Beckmann, Carlo Rivolta