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Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
The Journal of Clinical Investigation|August 21, 2019
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammationBritta Höchsmann, Yoshiko Murakami, Makiko Osato, et al.
Human Mutation|March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficultiesJunpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.
Scientific Reports|April 28, 2022
Predictive factors for false negatives following sentinel lymph node biopsy in early oral cavity cancerKouki Miura, Daisuke Kawakita, Isao Oze, et al.
Scientific Reports|April 15, 2023
Predictive factors for dissection-free sentinel node micrometastases in early oral squamous cell carcinomaTakashi Matsuzuka, Kiyoaki Tsukahara, Seiichi Yoshimoto, et al.
Pediatric Neurology|April 16, 2025
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGWNazim Rabouhi, Smrithi Salian, Hind Benkerroum, et al.
Annals of Neurology|October 24, 2024
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the PhenotypeChristopher J Record, Antoinette O'Connor, Nienke E Verbeek, et al.
Human Molecular Genetics|March 24, 2017
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathyDevon L Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
Blood|March 25, 2021
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disordersRomain Duval, Gaël Nicolas, Alexandra Willemetz, et al.
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