1. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature
   Cristina Gug et al, 2020, Gene CrossRef
2. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
   Cristina Gug et al, 2020, Front. Pediatr. CrossRef
3. Benefits of robotic devices in medical rehabilitation of a case with neurofibromatosis type1
   Felicia Liana ANDRONIE-CIOARA et al, 2020, BALNEO CrossRef
4. Arteria lusoria: a trick of nature
   Sarah S. Jakobsen et al, 2021, Scandinavian Journal of Gastroenterology CrossRef
5. Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population
   Cristina Gug et al, 2022, Medicina CrossRef
6. Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome
   Xiangtao Wu et al, 2022, Front. Genet. CrossRef
7. CHARGE syndrome, from occurrence to treatment
   Yalda Zhoulideh et al, 2023, Human Gene CrossRef
8. A novel CHD7 variant in a chinese family with CHARGE syndrome
   Yanhong Shan et al, 2023, Genes Genom CrossRef
9. Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism
   Tian Wang et al, 2023, Heliyon CrossRef
10. Síndrome CHARGE en recién nacido con rearreglo de los cromosomas 15 y Y. Reporte de caso
    Lina Barrera et al, 2024, Iatreia CrossRef
11. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)
    Josefine Theresia Koenigbauer et al, 2023, Arch Gynecol Obstet CrossRef
12. Progress in MGJWS: A 74-Year Review of Marcus Gunn Jaw-Winking Syndrome
    S. Zhuang et al, 2024, J Child Neurol CrossRef