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| 38041964 | Adult-onset neurodegeneration in XMEN disease. | J Neuroimmunol | 2024 |
| 38041964 | Adult-onset neurodegeneration in XMEN disease. | J Neuroimmunol | 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 |
| 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 |
| 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 |
| 37946247 | International Undiagnosed Diseases Programs (UDPs): components and outcomes. | Orphanet J Rare Dis | 2023 |
| 37822540 | Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. | Front Public Health | 2023 |
| 37586838 | Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. | J Med Genet | 2023 |
| 37883914 | Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. | Mol Genet Metab | 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 |
| 36897941 | Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. | Sci Adv | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 36711613 | Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion. | medRxiv | 2023 |
| 36707427 | LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 37388215 | Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion. | Front Endocrinol (Lausanne) | 2023 |
| 37256972 | Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome. | N Engl J Med | 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 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 36541585 | A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. | Am J Med Genet A | 2023 |
| 37586838 | Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. | J Med Genet | 2023 |
| 37946247 | International Undiagnosed Diseases Programs (UDPs): components and outcomes. | Orphanet J Rare Dis | 2023 |
| 37883914 | Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. | Mol Genet Metab | 2023 |
| 37822540 | Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. | Front Public Health | 2023 |
| 37256972 | Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome. | N Engl J Med | 2023 |
| 37388215 | Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion. | Front Endocrinol (Lausanne) | 2023 |
| 37448631 | Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy. | Mol Genet Metab Rep | 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 |
| 36541585 | A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. | Am J Med Genet A | 2023 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 36711613 | Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion. | medRxiv | 2023 |
| 36869920 | Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 36707427 | LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. | Cell Mol Life Sci | 2023 |
| 36897941 | Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. | Sci Adv | 2023 |
| 34815299 | Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>). | J Med Genet | 2022 |
| 36112139 | Desperately seeking solutions. | Genet Med | 2022 |
| 35843134 | Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. | Mol Genet Metab | 2022 |
| 36302964 | Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism. | Mucosal Immunol | 2022 |
| 35835062 | Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. | Mol Genet Metab | 2022 |
| 35509004 | Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome. | Respir Res | 2022 |
| 36093861 | Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia. | J Bone Miner 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 |
| 35659502 | In memoriam: Jerry Allan Schneider, 1937-2021. | 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 |
| 35144859 | PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. | Mol Genet Metab | 2022 |