Two single nucleotide polymorphisms identify the highest-risk diabetes HLA genotype: potential for rapid screening JM Barker, TM Triolo, TA Aly, EE Baschal, SR Babu, A Kretowski, ... Diabetes 57 (11), 3152-3155, 2008 | 80 | 2008 |
A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis G Haller, D Alvarado, K Mccall, P Yang, C Cruchaga, M Harms, A Goate, ... Human molecular genetics 25 (1), 202-209, 2016 | 79 | 2016 |
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis G Haller, K McCall, S Jenkitkasemwong, B Sadler, L Antunes, M Nikolov, ... Nature communications 9 (1), 4171, 2018 | 73 | 2018 |
HLA-DPB1* 0402 protects against type 1A diabetes autoimmunity in the highest risk DR3-DQB1* 0201/DR4-DQB1* 0302 DAISY population EE Baschal, TA Aly, SR Babu, MS Fernando, L Yu, D Miao, KJ Barriga, ... Diabetes 56 (9), 2405-2409, 2007 | 68 | 2007 |
Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis EE Baschal, CI Wethey, K Swindle, RM Baschal, K Gowan, NLS Tang, ... G3: Genes, Genomes, Genetics 5 (2), 167-174, 2015 | 64 | 2015 |
Analysis of single nucleotide polymorphisms identifies major type 1A diabetes locus telomeric of the major histocompatibility complex TA Aly, EE Baschal, MM Jahromi, MS Fernando, SR Babu, TE Fingerlin, ... Diabetes 57 (3), 770-776, 2008 | 63 | 2008 |
Extreme genetic risk for type 1A diabetes in the post-genome era EE Baschal, GS Eisenbarth Journal of autoimmunity 31 (1), 1-6, 2008 | 56 | 2008 |
Methyldopa blocks MHC class II binding to disease-specific antigens in autoimmune diabetes DA Ostrov, A Alkanani, KA McDaniel, S Case, EE Baschal, L Pyle, S Ellis, ... The Journal of clinical investigation 128 (5), 1888-1902, 2018 | 53 | 2018 |
Homozygosity of the polymorphism MICA5. 1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes TM Triolo, EE Baschal, TK Armstrong, CS Toews, PR Fain, MJ Rewers, ... The Journal of Clinical Endocrinology & Metabolism 94 (11), 4517-4523, 2009 | 48 | 2009 |
Type 1 diabetes: chronic progressive autoimmune disease L Zhang, R Gianani, M Nakayama, E Liu, M Kobayashi, E Baschal, L Yu, ... Defining Optimal Immunotherapies for Type 1 Diabetes: Novartis Foundation …, 2008 | 43 | 2008 |
Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison’s disease PR Baker, EE Baschal, PR Fain, TM Triolo, P Nanduri, JC Siebert, ... The Journal of Clinical Endocrinology & Metabolism 95 (10), E263-E270, 2010 | 42 | 2010 |
The HLA-B*3906 allele imparts a high risk of diabetes only on specific HLA-DR/DQ haplotypes EE Baschal, PR Baker, KR Eyring, JC Siebert, JM Jasinski, GS Eisenbarth Diabetologia 54, 1702-1709, 2011 | 35 | 2011 |
rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype AK Steck, EE Baschal, JM Jasinski, BO Boehm, N Bottini, P Concannon, ... Genes & Immunity 10 (1), S21-S26, 2009 | 32 | 2009 |
Defining multiple common “completely” conserved major histocompatibility complex SNP haplotypes EE Baschal, TA Aly, JM Jasinski, AK Steck, JA Noble, HA Erlich, ... Clinical Immunology 132 (2), 203-214, 2009 | 28 | 2009 |
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish EA Terhune, MT Cuevas, AM Monley, CI Wethey, X Chen, MV Cattell, ... Human mutation 42 (4), 392-407, 2021 | 26 | 2021 |
Idiopathic scoliosis families highlight actin-based and microtubule-based cellular projections and extracellular matrix in disease etiology EE Baschal, EA Terhune, CI Wethey, RM Baschal, KD Robinson, ... G3: Genes, Genomes, Genetics 8 (8), 2663-2672, 2018 | 21 | 2018 |
Dominant suppression of Addison's disease associated with HLA-B15 PR Baker, EE Baschal, PR Fain, P Nanduri, TM Triolo, JC Siebert, ... The Journal of Clinical Endocrinology & Metabolism 96 (7), 2154-2162, 2011 | 19 | 2011 |
Analysis of human leukocyte antigen DR alleles, immune-related adverse events, and survival associated with immune checkpoint inhibitor use among patients with advanced … HK Akturk, KL Couts, EE Baschal, KE Karakus, RJ Van Gulick, JA Turner, ... JAMA Network Open 5 (12), e2246400-e2246400, 2022 | 18 | 2022 |
Failed genetic protection: type 1 diabetes in the presence of HLA-DQB1* 06: 02 KM Simmons, AM Mitchell, AA Alkanani, KA McDaniel, EE Baschal, ... Diabetes 69 (8), 1763-1769, 2020 | 18 | 2020 |
The frequent and conserved DR3‐B8‐A1 extended haplotype confers less diabetes risk than other DR3 haplotypes EE Baschal, TA Aly, JM Jasinski, AK Steck, KN Johnson, JA Noble, ... Diabetes, Obesity and Metabolism 11, 25-30, 2009 | 17 | 2009 |