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| 37788905 | Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. | J Med Genet | 2024 |
| 37788905 | Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. | J Med Genet | 2024 |
| 37862187 | Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective. | Neural Regen Res | 2024 |
| 37862187 | Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective. | Neural Regen Res | 2024 |
| 36181424 | Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. | Brain | 2023 |
| 36181424 | Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. | Brain | 2023 |
| 37890204 | In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis. | Biomed Pharmacother | 2023 |
| 36968585 | cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome. | Front Genet | 2023 |
| 36965478 | Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. | Am J Hum Genet | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 36707427 | LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 37013900 | De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. | Genet Med | 2023 |
| 37254856 | Chediak-Higashi syndrome. | Curr Opin Hematol | 2023 |
| 36869920 | Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 37448631 | Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy. | Mol Genet Metab Rep | 2023 |
| 37890204 | In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis. | Biomed Pharmacother | 2023 |
| 37254856 | Chediak-Higashi syndrome. | Curr Opin Hematol | 2023 |
| 37448631 | Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy. | Mol Genet Metab Rep | 2023 |
| 37013900 | De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. | Genet Med | 2023 |
| 36968585 | cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome. | Front Genet | 2023 |
| 36965478 | Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. | Am J Hum Genet | 2023 |
| 36869920 | Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 36707427 | LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 35144859 | PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. | Mol Genet Metab | 2022 |
| 36046236 | Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the <i>HPS3</i> gene. | Front Genet | 2022 |
| 35509004 | Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome. | Respir Res | 2022 |
| 36088816 | Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis. | Mol Genet Metab | 2022 |
| 35739508 | Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility. | Respir Res | 2022 |
| 35490291 | Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. | J Inherit Metab Dis | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35312150 | Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis. | Am J Med Genet C Semin Med Genet | 2022 |
| 35144859 | PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. | Mol Genet Metab | 2022 |
| 35739508 | Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility. | Respir Res | 2022 |
| 35509004 | Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome. | Respir Res | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35490291 | Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. | J Inherit Metab Dis | 2022 |
| 36046236 | Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the <i>HPS3</i> gene. | Front Genet | 2022 |
| 36088816 | Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis. | Mol Genet Metab | 2022 |
| 35312150 | Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis. | Am J Med Genet C Semin Med Genet | 2022 |
| 33105479 | NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. | Hum Mol Genet | 2021 |
| 33970744 | Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy. | J Neurogenet | 2021 |
| 34211981 | Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens. | Front Med (Lausanne) | 2021 |
| 34257421 | Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. | Genet Med | 2021 |
| 34323400 | CB<sub>1</sub> R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome. | Clin Transl Med | 2021 |
| 33105479 | NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. | Hum Mol Genet | 2021 |
| 34412939 | Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. | Mol Genet Metab | 2021 |
| 34412939 | Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. | Mol Genet Metab | 2021 |
| 34323400 | CB<sub>1</sub> R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome. | Clin Transl Med | 2021 |
| 34211981 | Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens. | Front Med (Lausanne) | 2021 |