Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …

Background Macrocephaly, which is defined as a head circumference greater than or equal
to+ 2 standard deviations, is a feature commonly observed in children with developmental …

Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …

Background Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-
predicated precision medicine. Previous evidence focused predominantly on infants from …

Schuurs‐Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the
PACS1 gene on chromosome 11q13. There are 36 individuals published in the literature so …

Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently
coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly …

Abstract Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease
caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to …

Background Epigenetic variants have been shown in recent studies to be important
contributors to the pathogenesis of systemic lupus erythematosus (SLE). Here, we report a 2 …

Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing
point-of-care patient genotype information. Nonetheless, its implementation in the Chinese …

Objective Early onset drug‐resistant epilepsy is a neurologic disorder in which 2
antiepileptic drugs fail to maintain the seizure‐free status of the patient. Heterogeneous …