Human Genetics

Publications

Abu-El-Haija, M; Zhang, W; Wang, F; Cress, G; Dawson, B; Su, X; Thompson, T; Kotha, N; Chugh, A; Cohen, RZ; Yuan, Y; Whitcomb, DC; Uc, A; Lowe, M. Pancreatitis Risk Genes Play a Major Role in Pediatric Pancreatitis: Insights From INSPPIRE. Clinical Gastroenterology and Hepatology. 2026.

Alvey, L; Viswanath, V; Owens, JW; Shillington, A. Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report. Molecular Syndromology. 2026; 17(2):154-159.

Baker, M; Martin, S; Al Ghriwati, N; Little, P; Struemph, K; Tyndal, T; Tonsgard, J; Mackenzie, C; Schorry, EK; Walsh, KS; Wolters, PL. Qualitative aspects of pain in children and adults with neurofibromatosis type 1 and plexiform neurofibromas: Causes, consequences, and communication. Journal of Health Psychology. 2026; 31(4):1562-1574.

Beale, HC; Tse, V; Lee, JY; Akutagawa, J; Mavura, Y; Saint-John, B; Cheney, A; Mulligan, DR; Chacaltana, G; Gutierrez, M; Devine, P; Saba, JD; Vaske, OM; Slavotinek, A. A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved. Human Genetics. 2026; 145(1).

Bergès, C; Sauvestre, C; Naudion, S; Delorme, CV; Smol, T; Rama, M; Moortgat, S; Maystadt, I; Kersseboom, R; Wilke, M; Efthymiou, S; Houlden, H; Legendre, M; Michaud, V. Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients. Clinical Genetics. 2026.

Bernat, JA; Hopkin, RJ; Wilcox, WR; Hughes, D; Ganesh, J; Goker-Alpan, O; Nicholls, K; Deegan, PB; Cao, L; Chen, M; Schreeb, KH. Isaralgagene civaparvovec (ST-920) shows positive mean annualized eGFR slope in adults with Fabry disease: Topline results from the registrational phase 1/2 STAAR gene therapy study and long-term follow-up study. Molecular Genetics and Metabolism. 2026; 147(2):109334.

Bonfield, M; Gray, J; Ramiriqui, A; Stevens, J; Pandey, U; Canaday, L; Feldman, HA; Zacharias, WJ; Kottyan, L; Waggoner, SN; Deshmukh, H; Steinmeyer, S. Single cell atlas of lung-resident innate lymphoid cells shows impact of age and dysbiosis on epigenetic and transcriptomic programming. Mucosal Immunology. 2026; 19(2):1835-1847.

Boon, PX; Jauregi-Miguel, A; Yasarbas, SS; Pozzi, S; Karlsson, U; Husami, A; Ko, C; Shillington, A; Pantazis, A. Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans. Journal of Physiology. 2026; 604(8):3413-3430.

Brutkiewicz, RR; Brehm, M; Marshall, HD; O'donnell, CL; Varga, SM; Waggoner, SN. Biographical Feature: Raymond M. Welsh, Jr. (1945-2024)-a life in viral immunology, immune regulation, and scientific mentorship. Journal of Virology. 2026; e0066326.

Buasri, K; Theobald, K; Pant, DC; Verma, S; Jackson, F; Lopes, J; Brewer, CJ; Dawson, B; Taylor, SE; Slavotinek, A. Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review. BMC Neurology. 2026; 26(1).

Buasri, K; Slavotinek, A; Wattanasirichaigoon, D. P291: Lenz-Majewski hyperostotic dysplasia: Characterizing the clinical spectrum, defining genotype-phenotype correlation and proposing guidelines for diagnosis and management. Genetics in Medicine Open. 2026; 4:103785.

Byrd, CE; Schramm, JE; Yang, J; Barnes, AE; Griffiths, M; Nichols, WC; Ivy, DD; Austin, ED; Everett, AD. The Role of the Cellular Communication Network Protein Family in Pulmonary Arterial Hypertension. Pulmonary Circulation. 2026; 16:e70323.

Cavender, C; Atzinger, C; Slavotinek, A. A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions. Orphanet Journal of Rare Diseases. 2026.

Chang, WC; Martin, LJ; Satish, L; Williams, L; Hammonds, M; Jenkins, S; Osswald, G; Caldwell, J; Rothenberg, ME; Khurana Hershey, GK; Biagini, JM. Longitudinal enrichment of eosinophilic esophagitis in children with AD: The MPAACH cohort. Journal of Allergy and Clinical Immunology. 2026; 157(4):999-1001.

Chang, HR; Bannon, M; Opper, C; Slavotinek, A; Hijazi, G; Widmeyer, KM; Kellner, ES; Iqneibi, M; Bayart, C; Marathe, KS; Bridges, C. Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation. Pediatric Dermatology. 2026; 43(2):378-381.

Chen, A; Avadhani, U; Ngo, K; Corona, RI; Neto, GDVC; Figueroa, KP; Perlman, S; Pulst, SM; Nelson, SF; Wong, D; Fogel, BL. Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort. Movement Disorders. 2026.

Cheng, TL; Al Muhairi, AA; Slavotinek, A; Cariappa, B. International approaches to early identification of rare diseases and precision medicine. Pediatric Research. 2026; 99(3):834-836.

Cocanougher, BT; Mcdonald, MT. An Infant and Mother With Hypertelorism. Pediatrics in Review. 2026; 47(4):237-239.

Crenshaw, MM; Midgette, Y; Mohan, S; Wei, R; Anneling, M; Williams, M; Patel, M; Cocanougher, BT; Young, SP; Niyazov, D; El-Gharbawy, A; Stiles, AR. Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. JIMD Reports. 2026; 67(1):e70061.

Crenshaw, MM; D'annibale, OM; Martucci, V; Gracie, S; Kochhar, A; Stansauk, J; Larson, A; Baker, P; Peck, C; Wood, T; El-Gharbawy, A; Mccandless, S; Lopiccolo, MK. Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia. JIMD Reports. 2026; 67(1):e70058.

D'annibale, O. Commentary on Investigating Elevated Glutaric Acid in Early Infancy. Journal of Applied Laboratory Medicine. 2026; 11(3):666-667.

Dauber, A; De Bergua, J; Arundel, P; Campeau, P; Cocanougher, B; Edouard, T; Fredwall, S; Hoernschemeyer, D; Irgens, H; Jamuar, S; Wheeler, K; Irving, M; Hoover-Fong, J; Savarirayan, R. P111: The ACCEL observational study: Diagnostic features, medical history, and baseline characteristics of children with hypochondroplasia* Genetics in Medicine Open. 2026; 4:103605.

De Wachter, M; Van Der Lei, MB; Decleve, A; De Man, K; Elinck, E; Schoonjans, A-S; Gouy, E; Januel, L; Monin, P; Labalme, A; De Witte, PAM; Copmans, D; Jansen, AC; Kooy, RF. CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders. European Journal of Human Genetics. 2026.

Duann, JS; Martin, LJ; Brinkman, WB; Prows, CA; Mcgowan, ML; Myers, MF. Decisional Conflict Among Adolescents and Young Adults Before and After Facilitated Decision-Making About Learning Personal Genomic Information. Journal of Adolescent Health. 2026; 79(1):104-111.

Ebuen, M; Krishnan, V; Irby, K; Monsberger, R; Hopkin, RJ; Brand, MR; Friedman, N; Thom, RP; Reiss, AL; Algaze, C; Bernstein, JA; Alexander, S; Cormier-Daire, V; Lin, AE; Bachir, S. Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2026.

Ferrasse, A; Mendez, R; Gorzynski, JE; Reuter, C; Carter, JN; Blas, M; Bernstein, JA; Wheeler, MT; Banal, JL; Ashley, EA. Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome Biology. 2026; 27(1).

Garcia, MP; Finelli, A; Bhayana, R; Schieda, N; Kachura, J; Basso Dias, A; Raveendran, L; Abreu Gomez, J; Jajodia, A; Martin, L; Prendeville, S; Krishna, S. Comparison of coaxial technique with sequential (non-coaxial) technique for renal mass biopsy: evaluation of diagnostic efficacy, complication rates, seeding risk, and clinical outcomes. European Radiology. 2026; 36(2):979-986.

Gill, KK; Moore, C; Nwogu, O; Kroner, JW; Chang, W-C; Burkle, J; Virolainen, SJ; Stevens, ML; Baatyrbek, A; Miraldi, ER; Martin, LJ; Andorf, S; Khurana Hershey, GK; Roskin, KM. B-Cell Repertoire of Children With Atopic Dermatitis Exhibits Altered IgE Maturation Associated With Allergic Food Sensitization. Allergy. European Journal of Allergy and Clinical Immunology. 2026; 81(2):513-523.

Glassford, M; Jennings, C; Slavotinek, A. Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma. Clinical Case Reports. 2026; 14(6):e72913.

Grunwald, S; Taylor, A; Stackpole, K; Cocanougher, B; D'annibale, O. P044: First report of GLP-1 agonist use in MCAD deficiency. Genetics in Medicine Open. 2026; 4:103535.

Haanpää, MK; Haldeman-Englert, CR; Hietala, M; Tanverdi, MS; Koty, PP; Brightman, D; Dosunmu, E; Tibrewal, S; Kaur, S; Kaur, A; Verma, RK; De Alba Campomanes, AG; Utz, V; Slavotinek, AM; Curry, C. Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes. American Journal of Medical Genetics, Part A. 2026; 200(3):642-652.

Harrison, TB; Sinclair, JA; Martin, LJ; Brinkman, WB; Myers, MF; Mcgowan, ML. Participant Choice of Centralized or Remote Trial Engagement: Secondary Analysis of a Nonrandomized Clinical Trial. JAMA Network Open. 2026; 9(5):e2612029.

Hopkin, RJ; Byrne, BJ; Dimachkie, MM; Kishnani, PS; Mozaffar, T; Roberts, M; Schoser, B; Van Der Beek, NAME; Van Der Ploeg, AT; Wenninger, S; Jain, V; Johnson, F; Zhang, J; Parenti, G. Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. Therapeutic Advances in Rare Disease. 2026; 7:26330040261425686.

Hui, S; Pfeil, J; Stueckmann, D; Zhang, X; Martin, L; Komisarenko, M; Meens, J; Gorman, J; Szusz, J; Chevrier, S; Bader, GD; Finelli, A; Jackson, H; Lawson, K. Abstract PR019: Integrative multi-omic profiling reveals immune microenvironment subtypes in renal cell carcinoma. Cancer Research. 2026; 86(5_Supplement_2):pr019-pr019.

Ji, J; Yellapantula, V; Xu, D; Estrine, D; Markowitz, A; Han, J; Ma, K; Fong, C; Hawes, D; Margol, A; Biegel, JA; Cotter, JA; Raca, G; Tsai, JW. FOXR2-activated CNS neuroblastoma: Characterized by variable structural disruption of the FOXR2 regulatory region, recurrent copy number alterations, and elevated FOXR2 expression. Neuro-Oncology Pediatrics. 2026; 2(2):wuag014.

Jo, S; Lee, C; White, L; Shillington, A; Slavotinek, A; Wu, Y. A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry. Clinical Genetics. 2026; 109(5):926-930.

Johnson, J; Roberge, S; Hagood, B; Strine, A; Gutmark-Little, I; Pennesi, C; Hopkin, R; Breech, L; Schafer-Kalkhoff, T; Antommaria,, A; Rutter, M. From X to Y and everything in between: navigating care for patients with 45,X/46,XY mosaicism. Endocrine Abstracts. 2026.

Kamsheh, AM; Ware, SM; Bhatnagar, S; Martin, LJ; Lee, TM; Towbin, JA; Kantor, PF; Lal, AK; Bansal, N; Ballweg, JA; Colan, SD; Aronow, BJ; Canter, CE; Lipshultz, SE. Cardiomyopathy-Associated Pathogenic Variants in Pediatric Myocarditis: A Study From the Pediatric Cardiomyopathy Registry. Circulation: Heart Failure. 2026; 19(1):e013104.

Karnes, JH; Bao, C; Liang, S; Thayer, T; Zagorski, J; Naidu, SR; West, JD; Schwantes-An, T-H; Khajouei, E; Banerjee, K; Nichols, WC; Chu, A; Tang, H; Desai, AA. Variation in SNX29 and Acute Vasodilator Response in Pulmonary Arterial Hypertension. Circulation Research. 2026.

Kottyan, LC; Richards, S; Tracy, ME; Lawson, LP; Kottyan, IC; Curwin, A; Cobb, B; Esslinger, S; Gerwe, M; Morgan, J; Muglia, L; Harley, JB; Chepelev, I; Kaufman, KM. Sequencing and health data resource of children of African ancestry. Genetics in Medicine. 2026; 28(3):101660.

Kubick, B; Mevis, K; Conrad, C; Shillington, A. Management of Gastrointestinal Comorbidities Improves Behavioral Symptoms in a Patient with Kleefstra Syndrome. Journal of Developmental and Physical Disabilities. 2026; 1-11.

Laney, DA; Araujo, R; Batista, JL; Wilson, KM; Berger, KI; Hopkin, RJ. Early disease manifestations and treatment outcomes in pediatric Fabry disease patients treated with agalsidase beta in the United States. Molecular Genetics and Metabolism. 2026; 147(2):109513.

Lawson, LP; Prows, CA; Cortopassi, J; Davis, KW; Head, M; Martin, LJ; Perez, EF; Sobowale, A; Abul-Husn, NS; Bangash, H; Wiesner, GL; Xian, S; Jarvik, GP; Kullo, I. Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study. American Journal of Human Genetics. 2026; 113(4):678-691.

Leon Tenorio, AA; Sugio, T; Cheng, J; Bonner, DE; Esfahani, MS; Kasinathan, S; Hsu, JJ; Moyer, A; Pimentel Vera, L; Carter, J; Serrano, TJ; Vasiliou, V; Halstead, W; Jiang, Y. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatology. 2026; 8(2).

Limdi, N; Beasley, TM; Cortopassi, J; Davis, B; Bangash, H; Chen, J; Chisholm, RL; Chung, WK; Cimino, JJ; Connolly, J; Weng, C; Wiesner, G; Abul-Husn, NS; Veenstra, DL. The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments. American Journal of Human Genetics. 2026; 113(4):664-677.

Lin, Y; Liou, B; Fannin, V; Adler, S; Mayhew, CN; Hammonds, JE; Hu, Y-C; Tchieu, J; Zhang, W; Zhao, X; Kaynak, A; Qi, X; Feldman, RA; Sun, Y. Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. eLife. 2026; 15.

Monsberger, R; Widmeyer, K; Hopkin, R; Brightman, D; Liu, J; Sperry, E; Slavotinek, A; Berton, J; Weaver, KN; Shillington, A; Mirabella, O; Krueger, L. P112: Diagnostic utility of validated episignatures for recurrent constellations of embryonic malformations in inpatient settings: A retrospective cohort analysis* Genetics in Medicine Open. 2026; 4:103606.

Muto, V; Fasano, G; Radio, FC; Pedalino, C; Carvetta, M; Coppola, S; Zara, E; Petrini, S; Schluth-Bolard, C; Bilbault, C; Hodoglugil, U; Slavotinek, A; Tartaglia, M; Lauri, A. Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations. European Journal of Human Genetics. 2026; 34(3):438-443.

Namjou, B; Lape, M; Weirauch, MT; Kaufman, KM; Kottyan, LC. Polygenic risk score and phenome-wide association study of the Epstein-Barr virus antibody response. Frontiers in Genetics. 2026; 17:1786510.

Ntoumaziou, A; Risinger, M; Elgammal, Y; Zhang, W; Kalfa, TA; Smart, LR. Cryohydrocytosis: When Cold Breaks the Membrane. American Journal of Hematology. 2026; 101(6):1217-1219.

Orr, SL; Hershey, AD; Kurowski, BG; Langevin, LM; Martin, LJ; Pilipenko, V; Tang, K; Beauchamp, MH; Craig, WR; Doan, Q; Zemek, R; Yeates, KO. Post-Traumatic Headache in Children and Genetic Risk of Migraine: An Observational Cohort Study. Neurology: Genetics. 2026; 12(2):e200371.

Paulding, D; Han, SJY; Timmons, J; Caye, M; Riedel, A; Brugmann, SA; Barske, L. Cranial neural crest shortage leads to extensive craniofacial anomalies in mice mutant for the NR2F1/2 nuclear receptors. Developmental Biology. 2026; 530:102-118.

Robertson, HK; Fernandes, TM; Nichols, WC; Alotaibi, M. C64-15 Specialized Pro-resolving Mediators Are Associated With Superior Right Ventricle Function in Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2026; 212(Supplement_1):aamag162.5832.

Saloman, JL; Andersen, DK; Abu-El-Haija, M; Bellin, MD; Conwell, DL; Faghih, M; Forsmark, CE; Goodarzi, MO; Gulla, AK; Hart, PA; Yadav, D; Yost, C; Zhang, W; Freeman, AJ. Complications of Pancreatitis-Knowledge Gaps and Research Opportunities: A Workshop Summary. Pancreas. 2026; 55(3):e267-e277.

Schieffer, KM; Hawkins, C; Jiang, N; Levine, RL; Pugh, TJ; Raca, G; Shams, S; Baughn, LB; Akkari, Y. Points to consider for the next-generation-sequencing-based detection of copy-number abnormalities (CNAs) and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2026; 28(3):101658.

Schwartz, CE; Borowiec, K; Burton, BK; Hopkin, RJ; Morgan, H; Koulinska, I; Rapkin, BD. Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: Measuring what matters in alpha-mannosidosis. Molecular Genetics and Metabolism. 2026; 147(2):109612.

Schwartz, J; Pilipenko, V; He, H; Bolton, S; Collins, MH; Felton, JM; Oswald, GA; Zehnder, LJ; Kemtur, P; Mukkada, VA; Martin, LJ; Rothenberg, ME; Zhang, S. Peripheral blood markers of pediatric eosinophilic esophagitis. Journal of Allergy and Clinical Immunology. 2026; 157(4):1002-1005.

Shi, Y; Silva, A; Debuy, C; Ghosh, S; Mcconkey, H; Schot, R; Deng, R; Nikoncuk, A; Van Slegtenhorst, M; Hoefsloot, LH; Kleefstra, T; Lanko, K; Sadikovic, B; Barakat, TS. Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET. Genetics in Medicine. 2026; 102637.

Shillington, A; White, L; Doberstein, R; Hopkin, RJ; Zappia, K; Harris, K; Lamy, M. Conferring a Genetic Diagnosis for Children with Neurodevelopmental Disorders in the Inpatient Psychiatry Setting May Reduce Hospital Stays and Improve Behavior. Advances in Neurodevelopmental Disorders. 2026; 10(2):241-255.

Showpnil, IA; Feinstein-Goren, N; Greenbaum, L; Barel, O; Koboldt, DC; Brugmann, SA; Weaver, KN; Slavotinek, A; Pode-Shakked, B; Stottmann, RW. Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. Clinical Genetics. 2026; 109(4):788-795.

Smith, TH; Jean, J; Phan, S; Kovach, AE; Miller, K; Han, J; Ma, K; Fong, C; Doan, A; Bhojwani, D; Raca, G. Optical Genome Mapping in Pediatric Hematologic Malignancies: High Diagnostic Yield and Unique Insights Across Leukemia Subtypes. Modern Pathology. 2026; 39(1):100937.

Suckiel, SA; Golfinopoulos, L; Scherr, CL; Boyd, BM; Chung, WK; Hakonarson, H; Holm, IA; Kullo, IJ; Limdi, NA; Murray, MF; Sabatello, M; Wiesner, GL; Kenny, EE; Abul-Husn, NS. Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study. HGG Advances. 2026; 7(1):100554.

Sun, Y; Liou, B; Lin, Y; Fannin, V; Kaynak, A; Qi, X. Brain delivery of long-acting enzymes via SapC-DOPS nanocarrier for neuronopathic Gaucher disease. Molecular Genetics and Metabolism. 2026; 147(2):109639.

Swanson, K; Hodoglugil, U; Sparks, TN; Lianoglou, BR; Slavotinek, AM; Norton, ME. Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results. Prenatal Diagnosis. 2026; 46(5-6):924-932.

Tang, X; Ahmed, S; Ahmed, FB; Albrecht, V; Brennsteiner, V; Chang, AL; Chowdhury, NH; Deb, S; Gormley, M; Hasan, T; Stringer, JS; Zhang, G; Jehan, F; De Paris, K. Multi-Omics for Mothers and Infants (MOMI) Consortium: a global initiative to study adverse pregnancy outcomes. Journal of Global Health. 2026; 16:05002.

Theobald, K; Shillington, A; Jackson, F; Lopes, J; Brewer, CJ; Dawson, B; Wu, G; Denton, J; Pauciulo, M; Zhang, X; Slavotinek, A. Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery. Clinical Genetics. 2026; 109(4):717-724.

Theobald, K; Coconaugher, B; Jackson, F; Brewer, C; Dawson, B; Denton, J; Wu, G; Slavotinek, A. P509: Redefining access and interpretation in genomic medicine: A hybrid model with systematic variant resolution. Genetics in Medicine Open. 2026; 4:104001.

Trimarchi, MP; Namjou-Khales, B; Ben-Baruch Morgenstern, N; Rochman, M; Chen, X; Osswald, GA; Besse, JA; Shook, MS; Caldwell, JM; Lape, M; Constantine, GM; Martin, LJ; Kottyan, LC; Rothenberg, ME. Multitrait analysis of genome-wide association studies expands eosinophilic esophagitis genetic susceptibility and polygenic risk scores. Journal of Allergy and Clinical Immunology. 2026.

Vijayarajan, SAL; Krolick, KN; Zhang, X; Martin, LJ; Glynn, S; Cole, K; Ji, H; Ramamurthi, RJ; Einhorn, LM; Monitto, CL; Ganesh, A; Chidambaran, V. 40 Paired DNA Methylation Analysis: Early Epigenetic Shifts After Surgery. Journal of Pain. 2026; 41:105687.

Vijayarajan, SAL; Krolick, KN; Quayle, K; Pilipenko, V; Glynn, S; Lacagnina, MJ; Martin, LJ; Lages, CS; Thornton, S; Garcia, V; Chidambaran, V. Potential role for immune cell signatures as predictors of acute and chronic pain in adolescents post major musculoskeletal surgery. Brain, Behavior, and Immunity. 2026; 131:106133.

Waggoner, SN. Natural Killer Cells in T Cell Regulation. In: Encyclopedia of Immunobiology. Elsevier; 2026:327-338.

Wallace, EL; Wanner, C; Piotti, G; Lee, D; Koulinska, I; Chertkoff, R; Warnock, DG. Impact of Proteinuria on Renal Outcomes in the BALANCE Trial. Kidney International Reports. 2026; 11(2):103691.

Weingarten, LS; Rosenbaum, A; De Voest, J; Galloway, S; Giordano, JL; Stover, S; Westerfield, LE; Bonesteele, G; Gilmore, KL; Tolusso, L; Clifton, RG; Caughey, AB; Wapner, RJ; Chung, WK. The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies. Prenatal Diagnosis. 2026; 46(5-6):727-736.

Winden, K; Bebin, EM; Jeste, S; Krueger, DA; Paul, E; Sahin, M. Tuberous sclerosis complex. 2026.

Yu, X; Lu, P; Varney, A; Thiemann, C; Wu, G; Dawson, B; Mendonca, E; Weaver, KN; Chen, J. P521: A systematic evaluation of structured electric health record for rare genetic disease detection. Genetics in Medicine Open. 2026; 4:104013.

Yuguchi, E; Trinh, N; Robertson, HK; Nichols, WC; Alotaibi, M. D106-25 Specialized Pro-Resolving Mediators as Potential Mediators of Smoking-Associated Right Ventricular Dysfunction in Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2026; 212(Supplement_1):aamag162.5906.

Zhang, S; Pilipenko, V; He, H; Collins, M; Felton, J; Osswald, G; Martin, L; Rothenberg, M. Peripheral blood markers of eosinophilic esophagitis. Journal of Allergy and Clinical Immunology. 2026; 157(2):ab62.

Zhang, W; Todd, KE; Dawson, DB; Luchtman-Jones, L; Palumbo, JS. Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience. Research and Practice in Thrombosis and Haemostasis. 2026; 10(2):103413.

Zhao, X; Lin, Y; Sun, Y; Liu, C. 029 LINKING PGRN DEFICIENCY AND GBA MUTATION TO LYSOSOMAL DYSFUNCTION IN CHONDROCYTE METABOLISM AND OSTEOARTHRITIS. Osteoarthritis and Cartilage. 2026; 34:s49-s51.

Zhao, X; Fu, W; Lin, Y; Liou, B; Fannin, V; Grabowski, G; Sun, Y; Liu, C. A progranulin derivative blocks the C5a/C5aR1 signaling and mitigates pathology in Gaucher disease. Molecular Genetics and Metabolism. 2026; 147(2):109683.