|
| 37962958 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. | J Clin Invest | 2024 |
| 36621880 | Returning integrated genomic risk and clinical recommendations: The eMERGE study. | Genet Med | 2023 |
| 37883979 | Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. | Am J Hum Genet | 2023 |
| 37246632 | Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. | Genet Med | 2023 |
| 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. | Nat Commun | 2023 |
| 34665896 | Do research participants share genomic screening results with family members? | J Genet Couns | 2022 |
| 35860725 | Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>. | HGG Adv | 2022 |
| 36422086 | Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. | J Pers Med | 2022 |
| 36556166 | Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. | J Pers Med | 2022 |
| 35865463 | Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing <i>DPYD</i> and <i>UGT1A1</i> Screening to Guide Chemotherapy Dosing. | Front Oncol | 2022 |
| 35216901 | The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. | Genet Med | 2022 |
| 33349347 | A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening. | J Mol Diagn | 2021 |
| 33783954 | Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. | Am J Med Genet A | 2021 |
| 35047834 | Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>. | HGG Adv | 2021 |
| 33969943 | Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. | Am J Med Genet A | 2021 |
| 33951936 | Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. | Circ Heart Fail | 2021 |
| 32349224 | Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. | J Pers Med | 2020 |
| 31769566 | Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. | Hum Mutat | 2020 |
| 32669677 | Participant choices for return of genomic results in the eMERGE Network. | Genet Med | 2020 |
| 32413979 | Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. | J Pers Med | 2020 |
| 31409799 | Mutations in topoisomerase IIβ result in a B cell immunodeficiency. | Nat Commun | 2019 |
| 31587868 | Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. | Am J Hum Genet | 2019 |
| 29301385 | Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. | J Pers Med | 2018 |
| 30055086 | De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. | Am J Med Genet A | 2018 |
| 30011878 | Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. | Healthcare (Basel) | 2018 |
| 29469822 | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Genet Med | 2018 |
| 29130604 | Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins. | Am J Med Genet A | 2018 |
| 28504353 | CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. | Am J Med Genet A | 2017 |
| 28807867 | Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. | Eur J Med Genet | 2017 |
| 27040691 | Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. | Am J Hum Genet | 2016 |
| 26507355 | Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. | Hum Mutat | 2016 |
| 25412741 | Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. | J Med Genet | 2015 |
| 26436111 | EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. | Mol Genet Genomic Med | 2015 |
| 26235985 | Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. | Am J Hum Genet | 2015 |
| 26097173 | "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014. | Am J Med Genet A | 2015 |
| 26111080 | Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. | Am J Med Genet A | 2015 |
| 25944381 | DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. | Eur J Hum Genet | 2015 |
| 24259342 | Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. | Am J Med Genet A | 2014 |
| 25123255 | CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. | Am J Med Genet A | 2014 |
| 24791903 | De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. | Am J Hum Genet | 2014 |
| 23032111 | Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. | Eur J Hum Genet | 2013 |
| 23453666 | Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. | Am J Hum Genet | 2013 |
| 23754335 | Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. | Prenat Diagn | 2013 |