publication venue for
- CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 2017
- RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures. 2024
- Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank. 2024
- Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome. 2024
- Identifying factors and causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis.. 26. 2024
- Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. 2022
- Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.. 24. 2022
- Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.. 24. 2022
- Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. 2022
- Age of first cancer diagnosis and survival in Bloom syndrome.. 24. 2022
- Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.. 24. 2022
- Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. 2021
- Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.. 23. 2021
- Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. 23. 2021
- Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.. 23. 2021
- Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma.. 22. 2020
- Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.. 22. 2019
- A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.. 22. 2019
- Toward automation of germline variant curation in clinical cancer genetics.. 21. 2019
- Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.. 21. 2019
- TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.. 21. 2019
- An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.. 21. 2018
- Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.. 20. 2018
- Point-of-care whole-exome sequencing of idiopathic male infertility.. 20. 2018
- CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.. 20. 2017
- Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.. 20. 2017
- Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.. 19. 2017
- The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.. 18. 2016
- Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study.. 18. 2016
- Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.. 18. 2015
- Clinical phenotype of the recurrent 1q21.1 copy-number variant.. 18. 2015
- Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors.. 16. 2014
- Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies.. 15. 2013
- Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.. 13. 2011
- Informed consent to microsatellite instability and immunohistochemistry screening for Lynch syndrome.. 13. 2011
- Recall of disclosed apolipoprotein E genotype and lifetime risk estimate for Alzheimer's disease: the REVEAL Study.. 8. 2006
- The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.. 8. 2006
- Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial.. 6. 2004
- Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.. 4. 2002
- Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations.. 3. 2001
- Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? 2013
- The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. 2009
- Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling. 2023
- An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. 2022
- PMS2 monoallelic mutation carriers: the known unknown. 2015
- Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 2013