publication venue for
- Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. 43:1089-1096. 2022
- Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery. 39:1126-1138. 2018
- Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. 38:1786-1795. 2017
- A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families. 35:n/a-n/a. 2014
- Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia. 35:45-49. 2014
- Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency. 34:385-394. 2013
- K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. 29:689-694. 2008
- PhenCode: connecting ENCODE data with mutations and phenotype. 28:554-562. 2007
- HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. 28:206-206. 2007
- Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects. 26:575-582. 2005
- Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 26:59-59. 2005
- Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. 23:32-39. 2004
- Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 22:418-419. 2003
- HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. 19:225-233. 2002
- Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction. 13:245-254. 1999
- Novel seventeen basepair deletion in exon 3 of the β-globin gene. 6:252-253. 1995
- Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population. 3:248-253. 1994
- Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing. 3:239-242. 1994
- Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion. 2:375-379. 1993