RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort [0.03%]
RNU4ATAC病的临床、分子和转录组学见解——来自大样本队列的研究
Dena R Matalon,Angela L Duker,Taylor M Arriaga et al.
Dena R Matalon et al.
Purpose: We aim to better define the genotype and phenotype spectrum of RNU4ATAC-opathy, demonstrate the utility of RNA sequencing for variant classification, and highlight challenges in detecting variants in this noncodi...
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed [0.03%]
RNU4ATAC异常的临床谱系扩大：比预期的更常见和多样
Silvestre Cuinat,Valérie Cormier-Daire,Jeremie Rosain et al.
Silvestre Cuinat et al.
Purpose: Biallelic variants in the minor spliceosomal gene RNU4ATAC were successively identified in Taybi-Linder/MOPD1 (Microcephalic osteodysplastic primordial dwarfism type I), Roifman, and Lowry-Wood syndromes, charact...
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET [0.03%]
界定与SET基因相关的神经发育障碍的临床和分子谱系
Yuwei Shi,Ananilia Silva,Christophe Debuy et al.
Yuwei Shi et al.
Purpose: SET is a member of the inhibitor of histone acetyltransferases (INHAT) complex, involved in transcriptional silencing and gene regulation. Pathogenic variants in SET are postulated to cause neurodevelopmental dis...
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders [0.03%]
KMT2A和KMT2B表观遗传特征可应对罕见神经发育障碍的诊断挑战
Zain Awamleh,Anthony Chen,Sanaa Choufani et al.
Zain Awamleh et al.
Purpose: Pathogenic variants in KMT2A and KMT2B, encoding histone H3 lysine 4 methyltransferases, cause distinct neurodevelopmental disorders-Wiedemann-Steiner syndrome (WDSTS) and Dystonia 28 (DYT28), respectively. We ge...
Beyond Mistrust: Diverse Biobanking Preferences Among Parents and Adolescents with Sickle Cell Disease [0.03%]
超越不信任：镰状细胞病父母及青少年多样化的生物样本库偏好
Meaghann S Weaver,Ambria Williams,Belinda Mandrell et al.
Meaghann S Weaver et al.
Purpose: - To examine biobanking preferences among adolescents with sickle cell disease (SCD) and parents of children with SCD, to inform best practices for promoting informed consent. ...
Correspondence on "Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms" by Pastor et al [0.03%]
Pastor等关于“Black基因组中的光学图谱：LCR22的不同结构和22q11.2缺失综合征机制”的来信 correspondence on "optical mapping in Black genomes: distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms" by Pastor et al
Yarden S Fraiman,Monica H Wojcik
Yarden S Fraiman
Steven Pastor,Oanh Tran,Ryan Lapointe et al.
Steven Pastor et al.
Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions [0.03%]
生殖携带者筛查可检测早期可行动的代谢状况
Christian M Parobek,Roni Zemet,Vivienne Souter et al.
Christian M Parobek et al.
Purpose: Early actionable metabolic conditions (EAMCs) are disorders that are often severe but have early interventions that can improve clinical outcomes. EAMCs are not universally included on newborn screening panels. W...
Decision-Making Criteria in Polygenic Embryo Screening: A Survey of Reproductive Medicine Physicians [0.03%]
多基因胚胎筛查的决策标准：对生殖医学医师的调查研究
Rémy A Furrer,Aayushi Gandhi,Dorit Barlevy et al.
Rémy A Furrer et al.
Purpose: Polygenic embryo screening (PES) examines embryos for their genetic likelihood of developing complex conditions and traits. The commercialization of PES places Reproductive Endocrinologists & Infertility speciali...
Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
使用下一代测序检测重复扩增突变：美国医学遗传学院（ACMG）的建议声明
Saurav Guha,Indhu-Shree Rajan-Babu,Akanchha Kesari et al.
Saurav Guha et al.