| 35779835 | Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient. | Eur J Med Genet | 2022 |
| 34345025 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | Genet Med | 2021 |
| 32452540 | Lessons learned from 40 novel PIGA patients and a review of the literature. | Epilepsia | 2020 |
| 30665247 | Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. | Neuropediatrics | 2019 |
| 31267042 | Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. | Genet Med | 2019 |
| 31568715 | Characterization of the renal phenotype in RMND1-related mitochondrial disease. | Mol Genet Genomic Med | 2019 |
| 31155615 | Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. | Genet Med | 2019 |
| 30909959 | Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 30819258 | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 29515625 | Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital. | Front Genet | 2018 |
| 28742085 | Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. | PLoS Genet | 2017 |
| 28194692 | Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis. | World J Pediatr | 2017 |
| 27480077 | SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. | Am J Med Genet A | 2016 |
| 25326669 | De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. | Hum Genet | 2015 |
| 23695283 | Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster. | Eur J Hum Genet | 2014 |
| 25439098 | Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. | Am J Hum Genet | 2014 |
| 23523602 | Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. | Eur J Med Genet | 2013 |
| 24080358 | MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. | Eur J Med Genet | 2013 |
| 21480868 | Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. | Clin Genet | 2012 |
| 21673536 | A novel exon duplication of the cystic fibrosis transmembrane conductance regulator in a patient presenting with adult-onset recurrent pancreatitis. | Pancreas | 2011 |
| 22065502 | Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. | Am J Med Genet A | 2011 |
| 20358616 | A tale of two deletions: a report of two novel 20p13 --> pter deletions. | Am J Med Genet A | 2010 |
| 20683981 | Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization. | Am J Med Genet A | 2010 |
| 20533527 | Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. | Autism Res | 2010 |
| 19265751 | The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. | Genet Med | 2009 |
| 17505203 | Genetic testing in autism: how much is enough? | Genet Med | 2007 |
| 17286265 | Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. | Am J Med Genet A | 2007 |
| 16353251 | Trisomy 16p: a longitudinal profile and photo essay. | Am J Med Genet A | 2006 |
| 12515823 | A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. | J Cell Biol | 2003 |