|
| 36933558 | Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. | Am J Hum Genet | 2023 |
| 37261438 | Response to Spurdle et al. | Genet Med | 2023 |
| 34961661 | Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGSÂ panel. | Genet Med | 2022 |
| 35867948 | Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study. | JCO Glob Oncol | 2022 |
| 33731880 | Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). | Genet Med | 2021 |
| 32165484 | How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for <i>RUNX1</i> variant curation for germline predisposition to myeloid malignancies. | Haematologica | 2020 |
| 32051609 | Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. | Genet Med | 2020 |
| 31690835 | Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). | Genet Med | 2020 |
| 32906214 | Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. | Hum Mutat | 2020 |
| 31648317 | ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. | Blood Adv | 2019 |
| 30182442 | Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly. | Am J Med Genet C Semin Med Genet | 2018 |
| 30157302 | Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. | Hum Mutat | 2018 |
| 26681312 | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Genet Med | 2016 |
| 26633542 | Clinical application of whole-exome sequencing across clinical indications. | Genet Med | 2016 |
| 25356966 | Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. | Genet Med | 2015 |
| 25843063 | Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings. | Am J Obstet Gynecol | 2015 |
| 23653574 | Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. | Mol Syndromol | 2013 |
| 24343877 | Analysis of cardiac anomalies in VACTERL association. | Birth Defects Res A Clin Mol Teratol | 2013 |
| 21842183 | Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. | Hum Genet | 2012 |
| 23112757 | High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly. | Mol Syndromol | 2012 |
| 23112750 | Applying Genomic Analysis to Newborn Screening. | Mol Syndromol | 2012 |
| 22791840 | Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. | J Med Genet | 2012 |
| 22895008 | VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. | Clin Dysmorphol | 2012 |
| 22847929 | Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. | Birth Defects Res A Clin Mol Teratol | 2012 |
| 22585771 | Incidental medical information in whole-exome sequencing. | Pediatrics | 2012 |
| 22645505 | Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan. | Am J Med Genet A | 2012 |
| 22354285 | Evidence for SHH as a candidate gene for encephalocele. | Clin Dysmorphol | 2012 |
| 20648050 | Clinical utility gene card for: Holoprosencephaly. | Eur J Hum Genet | 2011 |
| 21779842 | Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate. | Atten Defic Hyperact Disord | 2011 |
| 21767969 | Personalized genomic medicine: lessons from the exome. | Mol Genet Metab | 2011 |
| 21976454 | A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. | Am J Med Genet A | 2011 |
| 21608104 | De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. | Birth Defects Res A Clin Mol Teratol | 2011 |
| 21315191 | Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. | Eur J Med Genet | 2011 |
| 21308977 | VACTERL association and mitochondrial dysfunction. | Birth Defects Res A Clin Mol Teratol | 2011 |
| 21235632 | Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association. | Congenit Anom (Kyoto) | 2011 |
| 21227728 | Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly. | Mol Genet Metab | 2011 |
| 21184580 | Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility. | Am J Med Genet B Neuropsychiatr Genet | 2011 |
| 20888933 | Long-term outcomes of adults with features of VACTERL association. | Eur J Med Genet | 2011 |
| 20104594 | Holoprosencephaly flashcards: A summary for the clinician. | Am J Med Genet C Semin Med Genet | 2010 |
| 22125506 | TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. | Mol Syndromol | 2010 |
| 21045958 | A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans. | Mol Syndromol | 2010 |
| 20683998 | Analysis of component findings in 79 patients diagnosed with VACTERL association. | Am J Med Genet A | 2010 |
| 20512033 | Consideration of VACTERL association in patients with trisomy 21. | Clin Dysmorphol | 2010 |
| 20157829 | Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. | Hum Genet | 2010 |
| 20198592 | [Utility of the Wender-Utah rating scale and the checklists for the diagnosis of familial attention deficit hyperactivity disorder in adults. Convergent and concurrent validities]. | Rev Neurol | 2010 |
| 20369369 | Evidence for inheritance in patients with VACTERL association. | Hum Genet | 2010 |
| 19955556 | Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. | J Med Genet | 2010 |
| 20104608 | Analysis of genotype-phenotype correlations in human holoprosencephaly. | Am J Med Genet C Semin Med Genet | 2010 |
| 20104604 | Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. | Am J Med Genet C Semin Med Genet | 2010 |
| 19340779 | [Attention deficit hyperactivity behavioral phenotype dimensions of adults from Antioquian families using the Wender-Utah Scale -Spanish version]. | Rev Neurol | 2009 |