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| 36322149 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: AÂ genotype-phenotype correlation study. | Genet Med | 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 |
| 36719165 | Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. | J Inherit Metab Dis | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 37013609 | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. | EMBO Mol Med | 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 |
| 37883914 | Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. | Mol Genet Metab | 2023 |
| 37013609 | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. | EMBO Mol Med | 2023 |
| 36719165 | Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. | J Inherit Metab Dis | 2023 |
| 36541585 | A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. | Am J Med Genet A | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 34878901 | Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. | Hypertension | 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 |
| 35716054 | ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. | J Inherit Metab Dis | 2022 |
| 35179230 | PIGN encephalopathy: Characterizing the epileptology. | Epilepsia | 2022 |
| 34878901 | Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. | Hypertension | 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 |
| 35716054 | ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. | J Inherit Metab Dis | 2022 |
| 35179230 | PIGN encephalopathy: Characterizing the epileptology. | Epilepsia | 2022 |
| 33413482 | Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. | Orphanet J Rare Dis | 2021 |
| 33970744 | Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy. | J Neurogenet | 2021 |
| 33413482 | Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. | Orphanet J Rare Dis | 2021 |
| 34723967 | FOXR1 regulates stress response pathways and is necessary for proper brain development. | PLoS Genet | 2021 |
| 34723967 | FOXR1 regulates stress response pathways and is necessary for proper brain development. | PLoS Genet | 2021 |
| 33970744 | Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy. | J Neurogenet | 2021 |
| 32395830 | Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. | J Inherit Metab Dis | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 32165008 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | Mol Genet Metab | 2020 |
| 32395830 | Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. | J Inherit Metab Dis | 2020 |
| 32461667 | Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. | Genet Med | 2020 |
| 32452540 | Lessons learned from 40 novel PIGA patients and a review of the literature. | Epilepsia | 2020 |
| 32150337 | A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. | Am J Med Genet A | 2020 |
| 32866347 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | Am J Med Genet C Semin Med Genet | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 32866347 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | Am J Med Genet C Semin Med Genet | 2020 |
| 32150337 | A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. | Am J Med Genet A | 2020 |
| 32461667 | Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. | Genet Med | 2020 |
| 32165008 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | Mol Genet Metab | 2020 |
| 32452540 | Lessons learned from 40 novel PIGA patients and a review of the literature. | Epilepsia | 2020 |
| 30362252 | Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. | Hum Mutat | 2019 |
| 30362252 | Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. | Hum Mutat | 2019 |
| 30423312 | Glycomics in rare diseases: from diagnosis tomechanism. | Transl Res | 2019 |
| 30817854 | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | Hum Mutat | 2019 |
| 30921410 | Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. | PLoS One | 2019 |
| 30830864 | PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. | JCI Insight | 2019 |