The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018. ABSTRACT Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide inpatient management. We performed an investigator-initiated, partially […]
Defining the phenotypic spectrum of SLC6A1 mutations
Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. ABSTRACT OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four […]
Response to Metcalfe et al
Genet Med. 2018 Sep;20(9):1093. doi: 10.1038/gim.2017.208. NO ABSTRACT PMID:29240079 | DOI:10.1038/gim.2017.208
Response to Newman et al
Genet Med. 2017 Dec;19(12):10.1038/gim.2017.164. doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. NO ABSTRACT PMID:29215644 | PMC:PMC7787267 | DOI:10.1038/gim.2017.164
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review
BMC Neurol. 2017 Nov 22;17(1):202. doi: 10.1186/s12883-017-0983-2. ABSTRACT BACKGROUND: Humanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular […]
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020. ABSTRACT Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 […]
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia
Neurology. 2017 Nov 28;89(22):2297-2298. doi: 10.1212/WNL.0000000000004689. Epub 2017 Nov 1. NO ABSTRACT PMID:29093066 | PMC:PMC5705245 | DOI:10.1212/WNL.0000000000004689
Molecular subtyping of tumors from patients with familial glioma
Neuro Oncol. 2018 May 18;20(6):810-817. doi: 10.1093/neuonc/nox192. ABSTRACT BACKGROUND: Single-gene mutation syndromes account for some familial glioma (FG); however, they make up only a small fraction of glioma families. Gliomas can be classified into 3 major molecular subtypes based on isocitrate dehydrogenase (IDH) mutation and 1p/19q codeletion. We hypothesized that the prevalence of molecular subtypes […]
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. ABSTRACT The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause […]
Low CSF 5-HIAA in Myoclonus Dystonia
Mov Disord. 2017 Nov;32(11):1647-1649. doi: 10.1002/mds.27117. Epub 2017 Sep 26. NO ABSTRACT PMID:28949039 | PMC:PMC5796435 | DOI:10.1002/mds.27117