Published in Am J Med Genet A on June 01, 2008
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr (2006) 2.97
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest (2006) 1.91
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A (2009) 1.74
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain (2013) 1.22
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis (2010) 1.08
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet (2012) 1.06
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Eur J Hum Genet (2011) 1.00
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A (2013) 0.97
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. Curr Opin Pediatr (2008) 0.96
FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord (2011) 0.95
Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab (2008) 0.94
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A (2011) 0.90
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. Genomic Med (2008) 0.87
Development of genomic reference materials for Huntington disease genetic testing. Genet Med (2007) 0.86
Oculocutaneous albinism spectrum. Am J Med Genet A (2009) 0.85
Novel mutation causing Hermansky-Pudlak Syndrome Type 2. Pediatr Blood Cancer (2010) 0.85
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. Am J Med Genet A (2009) 0.84
Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization. J Craniofac Surg (2010) 0.84
Maternal glutaric acidemia, type I identified by newborn screening. Mol Genet Metab (2008) 0.82
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn (2009) 0.81
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J Inherit Metab Dis (2010) 0.80
A new hypothesis of OCA1B. Am J Med Genet A (2008) 0.80
Synergistic interaction of the OCA2 and OCA3 genes in a family. Am J Med Genet A (2008) 0.78
Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome. Am J Med Genet A (2010) 0.78
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet A (2004) 0.77
A case of Asian Indian OCA3 patient. Am J Med Genet A (2009) 0.77
De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3). Am J Med Genet A (2005) 0.75