STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers
of disease-associated variants are being identified. This ongoing progress might lead to …

Background The aim of the study was to characterize molecular diagnoses in patients with
childhood-onset progressive neurological disorders of suspected genetic etiology. Methods …

Objective To evaluate factors influencing the diagnostic yield of comprehensive gene panel
testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of …

SRRM2‐related neurodevelopmental disorder is a recently described genetic diagnosis
caused by loss‐of‐function variants in SRRM2. In order to understand the clinical spectrum …

Synonymous variants have been shown to alter the correct splicing of pre‐mRNAs and
generate disease‐causing transcripts. These variants are not an uncommon etiology of …

Clinical exome sequencing (CES) is important for the diagnosis of Mendelian diseases,
which are clinically and etiologically heterogeneous. Sharing of large amounts of CES data …

遗传因素是导致消化系肿瘤发生的重要原因之一. 肿瘤相关基因胚系突变是遗传性消化系肿瘤的
主要发病原因, 患者呈家族聚集性发病. 遗传性消化系肿瘤病因多样, 临床表现复杂 …

BACKGROUND: The aim of the study was to characterize molecular diagnoses in patients
with childhood-onset progressive neurological disorders of suspected genetic etiology …