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Orphanet Journal of Rare Diseases|May 31, 2023
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counselingYin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, et al.
Research Square|March 30, 2023
Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic CounselingYin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, et al.
International Journal of Molecular Sciences|December 30, 2025
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2José Rafael Villafán-Bernal, Jhonatan Rosas-Hernández, Humberto García-Ortiz, et al.
Journal of Human Genetics|October 11, 2020
Clinical and molecular spectra of BRAF-associated RASopathyYena Lee, Yunha Choi, Go Hun Seo, et al.
Medicine|December 29, 2020
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotoniaHyunji Ahn, Go Hun Seo, Arum Oh, et al.
American Journal of Medical Genetics. Part A|March 13, 2025
Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly ComplexJorge Román Corona-Rivera, Rocio Carolina Cortés-Pastrana, Natalia Navia-Espinoza, et al.
Ophthalmic Genetics|December 17, 2021
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short statureNing Chiu, Winston Lee, Pei-Kang Liu, et al.
Journal of Child Neurology|December 23, 2025
From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 VariantsSofia Corbaz, Daniela Alejandra Pibernus, Mariana Amina Loos, et al.
Journal of Human Genetics|June 1, 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndromeJi-Hee Yoon, Soojin Hwang, Hyunwoo Bae, et al.
American Journal of Medical Genetics. Part A|June 15, 2022
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun familyAtta Ullah Khan, Ibrar Khan, Muhammad Ismail Khan, et al.
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