Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework [0.03%]
Enyonam Edoh,Chloe Mighton,Eleanor Broeren et al.
Enyonam Edoh et al.
Purpose: The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. This work summ...
Yue Jiao,David E Goldgar,Dorothée Le Gal et al.
Yue Jiao et al.
Purpose: Cancer risks of individuals heterozygous for an ATM pathogenic or predicted pathogenic variant (PV/PPV) remain imprecise to guide optimal clinical management. Therefore, we aimed to estimate these risks in differ...
Lara Andreoli,Kris Dierickx,Hilde Peeters
Lara Andreoli
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosis [0.03%]
Laura M Watts,Michelle S M Chang,Elizabeth Lewis-Orr et al.
Laura M Watts et al.
Purpose: ZIC1 encodes a transcription factor with critical roles in vertebrate neural and skeletal development. Heterozygous deletions encompassing ZIC1 and ZIC4 cause Dandy-Walker malformation, whilst in the final exon h...
A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options [0.03%]
北卡罗来纳州黏多糖贮积症II型新生儿筛查试点：将内源性非还原末端糖胺聚糖分析和IDS测序作为更高级的检测选项进行评估
Katerina S Kucera,Kristin Clinard,Samantha L Blake et al.
Katerina S Kucera et al.
Purpose: Mucopolysaccharidosis II (MPS II, OMIM 309900) is a lysosomal disorder recommended for newborn screening (NBS) in the United States. This study evaluated outcomes of high-throughput NBS for MPS II and use of two ...
Evaluating the impact of vosoritide on complications of achondroplasia [0.03%]
评估vosoritide对软骨发育不全并发症的影响
Ravi Savarirayan,Jacqueline T Hecht,Kala Jayaram et al.
Ravi Savarirayan et al.
Purpose: Impaired endochondral bone growth in people with achondroplasia causes complications that impair function, cause pain, require surgery, and contribute to mortality. Rates of complications in participants with ach...
New genotype-phenotype correlations and management recommendations for individuals with RERE variants [0.03%]
RERE变异体的新基因型-表型相关性及管理建议
David Curtis,Xiaonan Zhao,Nichole M Owen et al.
David Curtis et al.
Purpose: To define the phenotypic spectrum and genotype-phenotype correlations associated with pathogenic RERE variants and inform clinical management and genetic counseling for neurodevelopmental disorder with or without...
Exome Sequencing Identifies Additional Pathogenic Variants in Neurodevelopmental Genes in 3.6% of Individuals with Tuberous Sclerosis Complex [0.03%]
外显子组测序在3.6%的结节性硬化症个体中鉴定出神经发育相关基因的新致病突变
Laura S Farach,Costin Leu,Dennis Lal et al.
Laura S Farach et al.
Purpose: To determine the frequency of pathogenic gene or copy number variants associated with epilepsy or neurodevelopmental disorders in individuals with tuberous sclerosis complex (TSC). ...
Gretchen MacCarrick,Rana O Afifi,Rebecca Allen et al.
Gretchen MacCarrick et al.
Loeys-Dietz Syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations such...
Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights [0.03%]
成人庞贝病患者酶替代治疗的抗体形成及疗效：长期观察的新见解
Maudy T M Theunissen,Imke A M Ditters,Harmke A van Kooten et al.
Maudy T M Theunissen et al.
Purpose: Anti-recombinant human acid α-glucosidase (rhGAA) antibodies can develop in adult Pompe patients receiving enzyme replacement therapy (ERT), but their long-term impact on clinical treatment outcomes is currently...