| PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance SR Kiando, NR Tucker, LJ Castro-Vega, A Katz, V D’Escamard, C Tréard, ... PLoS genetics 12 (10), e1006367, 2016 | 180 | 2016 |
| Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis K Manthiram, S Preite, F Dedeoglu, S Demir, S Ozen, KM Edwards, ... Proceedings of the National Academy of Sciences 117 (25), 14405-14411, 2020 | 75 | 2020 |
| Chromosome 1q21. 2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction J Saw, ML Yang, M Trinder, C Tcheandjieu, C Xu, A Starovoytov, I Birt, ... Nature communications 11 (1), 4432, 2020 | 67 | 2020 |
| Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, ... PLoS genetics 15 (5), e1008130, 2019 | 54 | 2019 |
| A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia J Richer, HL Hill, Y Wang, ML Yang, KL Hunker, J Lane, S Blackburn, ... Arteriosclerosis, thrombosis, and vascular biology 40 (11), 2686-2699, 2020 | 34 | 2020 |
| Management of secondary genomic findings AE Katz, RL Nussbaum, BD Solomon, HL Rehm, MS Williams, ... The American Journal of Human Genetics 107 (1), 3-14, 2020 | 34 | 2020 |
| Genotype first: Clinical genomics research through a reverse phenotyping approach CM Wilczewski, J Obasohan, JE Paschall, S Zhang, S Singh, GL Maxwell, ... The American Journal of Human Genetics 110 (1), 3-12, 2023 | 28 | 2023 |
| False activation of the cardiac catheterization laboratory for primary PCI. GD Barnes, A Katz, JS Desmond, SL Kronick, J Beach, SJ Chetcuti, ... The American journal of managed care 19 (8), 671-675, 2013 | 24 | 2013 |
| Pitfalls and challenges in genetic test interpretation: an exploration of genetic professionals experience with interpretation of results KE Donohue, C Gooch, A Katz, J Wakelee, A Slavotinek, BR Korf Clinical genetics 99 (5), 638-649, 2021 | 21 | 2021 |
| Million Veteran Program J Saw, ML Yang, M Trinder, C Tcheandjieu, C Xu, A Starovoytov, I Birt, ... Chromosome 1q21 2, 0 | 15 | |
| The ACMG SF v3. 0 gene list increases returnable variant detection by 22% when compared with v2. 0 in the ClinSeq cohort JJ Johnston, ML Brennan, B Radenbaugh, SJ Yoo, SM Hernandez, ... Genetics in Medicine 24 (3), 736-743, 2022 | 8 | 2022 |
| The Genomic Ascertainment Cohort; Feder, HM, Jr.; et al. Common genetic susceptibility loci link PFAPA syndrome, Behcet’s disease, and recurrent aphthous stomatitis K Manthiram, S Preite, F Dedeoglu, S Demir, S Ozen, KM Edwards, ... Proc. Natl. Acad. Sci. USA 117, 14405-14411, 2020 | 7 | 2020 |
| Fibromuscular dysplasia and abdominal aortic aneurysms are dimorphic sex-specific diseases with shared complex genetic architecture AE Katz, ML Yang, MG Levin, C Tcheandjieu, M Mathis, K Hunker, ... Circulation: Genomic and Precision Medicine 15 (6), e003496, 2022 | 6 | 2022 |
| Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and … SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, ... PLoS Genet 15, e1008130, 2019 | 5 | 2019 |
| Advancements in the Genetics of Spontaneous Coronary Artery Dissection AE Katz, SK Ganesh Current Cardiology Reports 25 (12), 1735-1743, 2023 | 4 | 2023 |
| Conservative management of an elderly patient with Eisenmenger syndrome Y Rodriguez, M Ghannam, A Katz, M Shea Journal of Cardiology Cases 7 (4), e114-e116, 2013 | 2 | 2013 |
| From Atherosclerosis to Spontaneous Coronary Artery Dissection: Defining a Clinical and Genetic Risk Spectrum for Myocardial Infarction AE Katz, T Gupte, SK Ganesh Current Atherosclerosis Reports, 1-10, 2024 | 1 | 2024 |
| Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group CM Pak, MJ Gilmore, JE Bulkley, P Chakraborty, O Dagan-Rosenfeld, ... Genetics in Medicine, 101164, 2024 | | 2024 |
| ATP1A1-linked diseases require a malfunctioning protein product from one allele K Spontarelli, VC Young, R Sweazey, A Padro, J Lee, T Bueso, ... Biochimica et Biophysica Acta (BBA)-Molecular Cell Research, 119572, 2023 | | 2023 |
| SECONDARY FINDINGS: RATIONALE AND APPROACH TO EVALUATION OF GENOMICALLY ASCERTAINED DISORDERS OF INTERMEDIARY METABOLISM LG Biesecker, A Katz MOLECULAR GENETICS AND METABOLISM 135 (4), 242-242, 2022 | | 2022 |
