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 the INternational Study Group of Pediatric Pancreatitis: In search for a cuRE. Clinical Gastroenterology and Hepatology. 2026.

Al-Qazazi, R; Emon, IM; Potus, F; Martin, AY; Lima, PDA; Vlasschaert, C; Ott, BP; Chen, K-H; Wu, D; Dasgupta, A; Zhu, N; Shen, Y; Rauh, MJ; Archer, SL. Germline and somatic variants in DNMT3A and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension. European Heart Journal. 2026; 47(33):4658-4675.

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.

Anukanth, A; Waggoner, SN. Unconventional functions of natural killer cells in homeostasis and disease. Journal of Immunology. 2026; 215(7).

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; 110(3):379-388.

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.

Boone, PM; Erdin, S; Mohamed, A; Haghshenas, S; Faour, KNW; Kao, E; Fu, J; Auwerx, C; Harripaul, R; Jana, B; Tai, DJC; Sadikovic, B; Pfeifer, KE; Talkowski, ME. Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder. American Journal of Human Genetics. 2026; 113(8):1691-1718.

Brahmamdam, V; Tian, C; Armstrong, N; Pilipenko, V; Martin, LJ; Zygmunt, A; Rybalsky, I; Reebals, L; Nagaraj, CB. Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort. Annals of the Child Neurology Society. 2026.

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; 100(7):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(2):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; 21(1).

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; 41(9):2476-2489.

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.

Cheung, DC; Kaushal, S; Lund, A; Martin, LJ; Komisarenko, M; Perlis, N; Ghai, S; Alibhai, SMH; Kulkarni, GS; Haider, MA; Finelli, A. A survey of Canadian urologists' and radiologists' perspectives regarding the use of prostate MRI in biopsy-naive patients. Journal of the Canadian Urological Association. 2026.

Chien, Y-H; Hahn, A; Fu, L; Hopkin, RJ; Hahn, S; Witters, P; Denlinger, K; Haack, KA; Huynh-Ba, O; Garcia, C; George, K; Zhou, T; Kowthalam, MU; Kishnani, P. 3.55P Baby-COMET study: Safety and efficacy of avalglucosidase alfa in treatment-naïve participants with infantile-onset Pompe disease. Neuromuscular Disorders. 2026; 67:107046.

Childers-Buschle, K; Tracy, ME; Myers, MF; Mcgowan, ML; Prows, CA; Pauciulo, M. Lessons Learned in Clinical Trial Recruitment: A Partnership Between a Genomic Research Study and the Discover Together Biobank. Biopreservation and Biobanking. 2026; 24(4):291-300.

Cho, S; Ryan, P; Boll, D; Martin, LJ; Waters, K; Tyler, B; Ronis-Tobin, V; Kovacic, MB. Greenspace, land use, and PM₂.₅ across pandemic phases: Insights from a community scientist-led mobile sensing campaign. Science of the Total Environment. 2026; 1049:182124.

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

Cocanougher, B; D'annibale, O; Hopkin, R; Berton, J; Katz, S; Mirabella, O. P365: Sleep-disordered breathing in neonatal PURA syndrome. Genetics in Medicine Open. 2026; 4:103859.

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; Grunwald, S; Stackpole, K; Taylor, A; Xanthakos, S; Cocanougher, B. GLP-1 receptor agonist usage for obesity in medium chain acyl-COA dehydrogenase deficiency. Molecular Genetics and Metabolism. 2026; 148(1):109981.

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; 34(8):1070-1080.

Deb, W; Besnard, T; Desprez, F; Cogné, B; Do Souto Ferreira, L; Vignard, V; Marouillat, S; Januel, L; Gorokhova, S; Busa, T; Isidor, B; Bézieau, S; Laumonnier, F; Küry, S. De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder. Molecular Psychiatry. 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, R; Brand, M; Friedman, N; Thom, R; Reiss, A; Algaze, C; Cormier-Daire, V; Lin, A; Bachir, S; Ravi, S. P267: Neuropsychiatric manifestations in Myhre syndrome: Expanding the phenotype to guide early diagnosis and monitoring. Genetics in Medicine Open. 2026; 4:103761.

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.

Gomez-Arroyo, J; Houweling, AC; Postma, AV; Ganjawala, T; Dooijes, D; Bogaard, HJ; Aman, J; Zwart, R; Kitzmiller, JA; Edel, GG; Zacharias, WJ; Martin, LJ; Kalinichenko, VV; Nichols, WC. Rare Coding Variants in FOXF1 are Associated with Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2026.

Gonsalves, NP; Dellon, ES; Kliewer, KL; Shoda, T; Yearout, R; Aceves, SS; Arva, NC; Besse, JA; Caldwell, JM; Chehade, M; Deniz, Y; Furuta, GT; Martin, LJ; Rothenberg, ME. Dupilumab versus placebo in adults and adolescents with eosinophilic gastritis (DEGAS): a double-blind, placebo-controlled, phase 2, multicentre, randomised controlled trial. The Lancet Gastroenterology and Hepatology. 2026; 11(8):672-688.

Gooden, F; Martin, LJ; Sudman, M; Becker, ML; Thompson, SD; Lucafo, M; Forgiarini, SS; Stocco, G; Pastore, S; Taddio, A; Taylor, ZL; Ramsey, LB. Genetic variation in SLCO1B1 is associated with methotrexate intolerance symptoms in juvenile idiopathic arthritis patients. Pharmacogenetics and Genomics. 2026.

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.

Gutierrez, AM; Leo, MC; Joseph, G; Guerra, C; Ackerman, SL; Anguiano, B; Majumder, MA; Ramos, MA; Recinos, AM; Sahin-Hodoglugil, N; Slavotinek, A; Robinson, JO. Perceptions of professional Spanish medical interpretation during genomic sequencing results sessions. Patient Education and Counseling. 2026; 150:109736.

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.

Harris, K; Vucianis, T; Bouso, E; Shillington, A; Wu, Y. Expanding the Genotypic and Phenotypic Spectrum of Vissers-Bodmer Syndrome. American Journal of Medical Genetics, Part A. 2026.

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.

Hopkin, R; Schuh, M; Tolusso, L; Wong, B; Krueger, L; Berton, J. P760: Implementation and application of genetic testing requirements for fetal intervention candidacy: Practical, counseling, and ethical considerations. Genetics in Medicine Open. 2026; 4:104252.

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.

Husami, A; Mochizuki, A; Guan, Q; Zhang, W; Nagaraj, CB; Fabelo, C; Phillips, C; Dawson, B; Kim, SY. Discordant neoplasms in monozygotic twins with a germline RECQL5 variant. Cancer Genetics. 2026; 306-307:232-236.

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; 139(2):e327117.

Katz, S; Glassford, M; Slavotinek, A. P354: Mosaic FBXW7-related neurodevelopmental disorder presenting with developmental delay, hypotonia, expressive language delay, anorectal malformation, and proximal aorta dilation. Genetics in Medicine Open. 2026; 4:103848.

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.

Kurowski, BG; Martin, LJ; Pilipenko, V; Jegga, AG; Langevin, LM; Tang, K; Lamont, RE; Beauchamp, MH; Craig, WR; Doan, Q; Freedman, SB; Gravel, J; Zemek, RL; Yeates, KO. Genomic Signature Associated with Postconcussive Symptoms in Pediatric Mild Traumatic Brain Injury. Journal of Neurotrauma. 2026; 8977151261474338.

Kutty, A; Aragaki, A; Jiang, X; Schnatz, P; Allison, M; Manson, J; Jung, SY; Martin, L; Lau, E; Bradley, E; Nerlekar, N; Rossouw, J; Nudy, M. 213 Effect of Menopausal Hormone Therapy on Lipoprotein(a) Concentrations Stratified by Self-Reported Race/Ethnicity and Genetic Ancestry. Journal of Clinical Lipidology. 2026; 20(6):e130-e131.

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; Wheeler, MT; Bernstein, JA; Alizadeh, A; Gomez-Ospina, N. 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):e70184.

Levy, T; Lapidus, D; Friedman, K; Siper, P; Glass, L; Squires, L; Hames, M; Buxbaum, JD; Kolevzon, A. Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model. Autism Research. 2026; 19(8):e70297.

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.

Malysheva, V; Ray-Jones, H; Lakes, N; Brown, RA; Cazares, TA; Clay, O; Ohayon, DE; Artemov, P; Wayman, JA; Yang, ZF; Wallace, C; Miraldi, ER; Waggoner, SN; Spivakov, M. High-resolution promoter interaction analysis implicates genes involved in activation of type 3 innate lymphoid cells in immune disease risk. Nature Genetics. 2026; 58(8):1953-1966.

Mintz, KT; Altamirano, EN; Halley, MC; Barton, KS; Cho, MK; Bernstein, JA; Carter, JN; Tabor, HK. "It didn't feel like anything unusual because we had already been through so much": Disability-related research experiences of families with children enrolled in the undiagnosed diseases network. Genetics in Medicine. 2026; 28(9):102663.

Monsberger, R; Sperry, E; Shillington, A; Hopkin, R. P355: A likely pathogenic CHD7 variant in a family without manifestations of CHARGE syndrome. Genetics in Medicine Open. 2026; 4:103849.

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.

Myers, MF; Naik, H; Wainstein, T. Introduction to the Special Issue on Research Methods in Genetic Counseling: Diverse Methods, Shared Purpose. Journal of Genetic Counseling. 2026; 35(4):e70261.

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.

Nijim, S; Kim, M; Denish, M; Gonzalez, MV; Zinski, J; Rieubland, C; Braun, D; Ostergaard, E; Shillington, A; Faivre, L; Bucan, M; Marsh, ED; Dias, C; Fajgenbaum, DC. Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND). Genetics in Medicine. 2026; 28(10):102642.

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.

Pahl, E; Ware, SM; Shi, L; Colan, SD; Everitt, MD; Sleeper, LA; Sridhar, A; Schubert, JA; Canter, CE; Hsu, DT; Martin, LJ; Miller, EM; Bansal, N; Lipshultz, SE. Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry. JACC: Heart Failure. 2026; 103355.

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.

Peck, H; Krueger, LA; Sperry, ED; Monsberger, R; Grunwald, S; Swarr, DT; Hopkin, RJ; Shillington, A. Moebius-Plus Phenotype With Positive RCEM Episignature May Indicate Broader Embryologic Malformation Spectrum Detectable by Methylation Profiling. American Journal of Medical Genetics, Part A. 2026.

Pollard, JA; Alonzo, TA; Gerbing, RB; Kutny, M; Hirsch, B; Raca, G; Leger, K; Wilkes, J; Pabari, R; Wadhwa, A; Brodersen, LE; Meshinchi, S; Kolb, EA; Cooper, TM. AAML1831: A Phase III Trial Comparing Standard Induction Therapy With CPX-351 in De Novo Pediatric AML: A Report From the Children's Oncology Group. Journal of Clinical Oncology. 2026; 44(27):2590-2601.

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