Human Genetics

Publications

Al Ghriwati, N; Struemph, K; Martin, S; Little, P; Baker, M; Levine, J; Mackenzie, C; Tonsgard, J; Schorry, EK; Walsh, KS; Wolters, PL. Development of patient reported outcome measures assessing tumor pain intensity and tumor pain interference for individuals with neurofibromatosis type 1 and plexiform neurofibromas: qualitative findings. Journal of Patient-Reported Outcomes. 2025; 9(1):46.

Albee, AW; Sayson, SG; Ashbaugh, A; Wolf, NJ; Porollo, A; Smulian, G; Cushion, MT. Single-cell RNA sequencing defines developmental progression and reproductive transitions of Pneumocystis carinii. Microbiology Spectrum. 2025; 13(10):e0127725.

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. 2025.

Alshwimi, AO; Chimote, AA; Khodoun, MV; Weatherford, L; Hinrichs, BH; Wulff, H; Waggoner, SN; Wise-Draper, TM; Conforti, L. KCa3.1 channels regulate the tumor infiltration of functionally competent NK cells in head and neck cancer. Scientific Reports. 2025; 15(1):36360.

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. 2025.

Ananthamohan, K; Brady, TM; Arif, M; Daniels, SR; Falkner, B; Ferguson, M; Flynn, JT; Hanevold, C; Hooper, SR; Ingelfinger, JR; Chen, QM; Becker, RC; Urbina, EM; Sadayappan, S. A Multiomics Approach to Defining Target-Organ Injury in Youths With Primary Hypertension: The SHIP AHOY Cohort. Journal of the American Heart Association. 2025; 14(21):e037649.

Ananthamohan, K; Brady, TM; Arif, M; Daniels, S; Falkner, B; Ferguson, M; Flynn, JT; Hanevold, C; Hooper, SR; Ingelfinger, J; Zilliox, MJ; Becker, RC; Urbina, EM; Sadayappan, S. A Multi-Omics Approach to Defining the Target Organ Injury in Youth with Primary Hypertension. Journal of Molecular and Cellular Cardiology Plus. 2025; 12:100339.

Baglaenko, Y; Mu, Z; Curtis, M; Mire, HM; Jayanthi, V; Al Suqri, M; Liu, C; Agnew, R; Nathan, A; Mah-Som, AY; Liu, DR; Newby, GA; Raychaudhuri, S. Precisely defining disease variant effects in CRISPR-edited single cells. Nature. 2025; 646(8083):117-125.

Barton, B; Wolters, PL; Walsh, KS; Ullrich, NJ; Rosser, T; Tonsgard, J; Viskochil, D; Schorry, E; Klesse, LJ; Fisher, MJ; Korf, B; Acosta, MT; North, KN; Payne, JM. Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments. Journal of Neuro-Oncology. 2025; 174(1):65-76.

Bayraktutan, MC; Sveden, A; Belanger, R; Hanson, E; Murray, J; Yang, E; Cameron, J; Buttermore, E; Gable, D; Winden, K; Amiel, J; Gordon, C; Sahin, M; Chopra, M. O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations. Genetics in Medicine Open. 2025; 3:102108.

Beatty, K; Verma, AD; Moe, M; Htun, S; Scerri, T; Sidhu, A; Ginter, J; Walker, L; Deardorff, M; Do, J; Van De Laar, I; Pauly, M; Vasileiou, G; Morgan, A; Slavotinek, A. P338: Studying the role of the DIP2C gene in humans and zebrafish. Genetics in Medicine Open. 2025; 3:102303.

Biagini, JM; He, H; Chang, W-C; Williams, L; Hammonds, M; Martin, LJ; Khurana Hershey, GK. Socioeconomic deprivation performs equally to race in the Pediatric Asthma Risk Score. Pediatric Allergy and Immunology. 2025; 36(12):e70263.

Biesecker, BB; Ackerman, SL; Brothers, KB; East, KM; Foreman, AKM; Hindorff, LA; Horowitz, CR; Jarvik, GP; Knight, SJ; Leo, MC; Suckiel, SA; Veenstra, DL; Zinberg, RE; Hunter, JE. Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results. Genetics in Medicine. 2025; 27(4):101363.

Blanc, A; Laurent, F; Barbier-Chebbah, A; Van Assel, H; Cocanougher, BT; Jones, BMW; Hague, P; Zlatic, M; Chikhi, R; Vestergaard, CL; Jovanic, T; Masson, J-B; Barré, C. Statistical signature of subtle behavioral changes in large-scale assays. PLoS Computational Biology. 2025; 21(4):e1012990.

Blumling, AA; Elder, H; Sinclair, JA; Mulukutla, S; Mahoney, M; Prows, CA; Myers, MF; Mcgowan, ML. Decision stability among adolescents and young adults making choices about learning genomic research results. Journal of Genetic Counseling. 2025; 34(2):e2010.

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.

Brand, MR; Monsberger, R; Hopkin, RJ; Lin, AE. Research Review of Myhre Syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2025; e32145.

Brightman, D; Shinwari, N; Porollo, A; Dosunmu, EO; Ullah, E; Guan, B; Hufnagel, RB; Brooks, BP; Blain, D; Fuhrmann, S; Simpson, B; Slavotinek, AM. Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases. Clinical Genetics. 2025; 108(5):589-593.

Buasri, K; Pakhathirathien, P; Sananmuang, T; Dumrongwongsiri, S; Thatrimontrichai, A; Maneenil, G; Khongkraparn, A; Ngiwsara, L; Sawangareetrakul, P; Svasti, J; Slavotinek, A; Wattanasirichaigoon, D. New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review. Journal of Medical Genetics. 2025; 62(11):726-733.

Buecking, J; An, Y; Bi, W; Hinderhofer, K; Theiß, S; Slavotinek, A; Schaaf, CP. A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116. American Journal of Medical Genetics, Part A. 2025; 197(8):e64070.

Byrd, CE; Schramm, JE; Yang, J; Barnes, AE; Griffiths, M; Ambade, AS; Rosen, DT; Cubero Salazar, IM; Simpson, CE; Tedford, RJ; Austin, ED; Hassoun, PM; Damico, RL; Everett, AD. Cellular Communication Network Protein 2 in the Right Ventricle of Pulmonary Arterial Hypertension. Pulmonary Circulation. 2025; 15(2):e70067.

Canaday, LM; Cox, A; Feldman, HA; Seelamneni, H; Ali, A; Tuazon, JA; Botero Calderon, L; Bennett, SN; Yan, A; Wilson, M; Velu, V; Waggoner, SN. Refined cell transfer model reveals roles for Ascl2 and Cxcr3 in splenic localization of mouse NK cells during virus infection. Journal of Immunology. 2025; 214(8):1917-1925.

Cantrell, R; Feldman, HA; Rosenfeldt, L; Ali, A; Gourley, B; Sprague, C; Leino, D; Crosby, J; Revenko, A; Monia, B; Waggoner, SN; Palumbo, JS. Prothrombin prevents fatal T cell-dependent anemia during chronic virus infection of mice. JCI Insight. 2025; 10(4).

Carter, S; Tedros, M; Owens, J; Sperry, E; Hijazi, G; Seiwert, E; Zhang, W; Hopkin, R; Shillington, A; Wu, Y; Tedros, M. P189: Endocrinopathies in TAOK1-related neurodevelopmental disorders: An expanded case series on the evolution of symptoms in adolescents and young adults. Genetics in Medicine Open. 2025; 3:102154.

Chang, WC; Burkle, JW; Williams, LR; Hammonds, MK; Weheba, FA; Satish, L; Martin, LJ; Guilbert, TW; Sherenian, MG; Mersha, TB; Biagini, JM; Khurana Hershey, GK. Race-Specific and Race-Neutral Equations for Lung Function and Asthma Diagnosis in Black Children. JAMA Network Open. 2025; 8(2):e2462176.

Chang, X; Li, W; Matsui, S; Huynh, C; Erickson, C; Guo, F; Cederquist, GY; Studer, L; Iwafuchi, M; Shillington, A; Chronis, C; Tchieu, J. ZMYND11 functions in bimodal regulation of latent genes and brain-like splicing to safeguard corticogenesis. Nature Communications. 2025; 16(1):9010.

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. 2025.

Cheng, TL; Al Muhairi, AA; Slavotinek, A; Cariappa, B. International approaches to early identification of rare diseases and precision medicine. Pediatric Research. 2025.

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. 2025.

Collins, MH; Pan, Z; Yang, G-Y; Arva, NC; Pletneva, MA; Martin, LJ; Aceves, S; Chehade, M; Dellon, ES; Spergel, JM; Leung, J; Katzka, DA; Furuta, GT; Rothenberg, ME. Patient-Reported Outcome Scores Are Comparable in Multiregional Versus Uniregional Eosinophilic Esophagitis. Gastro Hep Advances. 2025; 4(9):100753.

Comper, F; Miranda, CJ; Liou, B; Dodev, T; Jeyakumar, JM; Canavese, M; Cocita, C; Khoshrou, K; Tiscornia, G; Chisari, E; Dane, AP; Sheridan, R; Nathwani, AC; Corbau, R. FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1. Molecular Therapy. 2025; 33(8):3789-3807.

Cooperstein, IB; Marwaha, S; Ward, A; Kobren, SN; Carter, JN; Wheeler, MT; Marth, GT. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Medicine. 2025; 17(1):127.

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.

Crenshaw, MM; D'annibale, OM; Schechter, A; Sethuraman, M; Porter, C; Bonn, G; Wright, E; Wood, T; Vockley, J; Hall, PL; Se, M. Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol. Molecular Genetics and Metabolism. 2025; 145(1):109104.

Dahal, A; Chang, WC; Johansson, E; Grashel, B; Morgan, D; Williams, L; Hammonds, M; Sachdeva, S; Spagna, D; Satish, L; Biagini, JM; Martin, LJ; Haslam, DB; Ollberding, NJ; Khurana Hershey, GK. Skin Staphylococcus aureus detection and relationship to atopic dermatitis outcomes using culture and metagenomic sequencing. Scientific Reports. 2025; 15(1):17606.

D'annibale, O; Phinney, W; Crenshaw, M; Lopiccolo, MK; Elsharkawi, I; Shelkowitz, E; Pique, D; Starosta, RT; Larson, A; Van Hove, JLK; Wood, T; Kochhar, A. Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis. Molecular Genetics and Metabolism. 2025; 145(4):109156.

Durumutla, HB; Haller, A; Noble, G; Prabakaran, AD; Mcfarland, K; Latimer, H; Rajput, A; Akinborewa, O; Namjou-Khales, B; Hui, DY; Quattrocelli, M. The human glucocorticoid receptor variant rs6190 increases blood cholesterol and promotes atherosclerosis. Journal of Clinical Investigation. 2025; 135(17).

Edwards, R; Murphy, G; Owens, JW; Erickson, C; Hopkin, R; Shillington, A. Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review. Case Reports in Genetics. 2025; 2025:4501466.

Elgammal, Y; Zhang, W; Kalfa, TA. Molecular surprises in evaluations of red cell disorders. Hematology. American Society of Hematology. Education Program. 2025; 2025(1):370-376.

Foley, AR; Bolduc, V; Guirguis, F; Donkervoort, S; Hu, Y; Orbach, R; Mccarty, RM; Sarathy, A; Norato, G; Cummings, BB; Wagener, R; Bertini, E; Muntoni, F; Bönnemann, CG. Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Brain. 2025; 148(9):3215-3227.

Fox, B; Mozaffar, T; Roberts, M; Byrne, B; Dimachkie, M; Hopkin, R; Kishnani, P; Schoser, B; Van Der Ploeg, A; Brudvig, J; Holdbrook, F; Jain, V; Johnson, F; Zhang, J; Parenti, G. P.101 Miglustat: a first-in-class enzyme stabiliser for late-onset Pompe Disease. Canadian Journal of Neurological Sciences. 2025; 52(s1):s38-s39.

Garg, R; Zhang, W; Hartmann, JE; Slavotinek, A. Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype. Frontiers in Pediatrics. 2025; 13:1518782.

Gertz, S; Lee, SY; Humphries, J; Pettus-Ogelsby, L; Martin, LJ; Morris, E; Mabisi, K; Kohli, E; Wilson, KL; Beckham, C; Wagner, E; Bates, L; Hershberger, S; Butsch Kovacic, M. Graphic-style stories to engage limited resource communities and promote health: methods for iterative co-design with community representatives. Frontiers in Public Health. 2025; 13:1500711.

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. 2025.

Gjorcheska, S; Paudel, S; Mcleod, S; Paulding, D; Snape, L; Sosa, KC; Duan, C; Kelsh, R; Barske, L. Sox10 is required for systemic initiation of bone mineralization. Development. 2025; 152(2).

Gomez-Arroyo, J; Houweling, A; Bogaard, HJ; Aman, J; Kitzmiller, J; Dooijes, D; Aldred, M; Gräf, S; Rhodes, CJ; Chung, WK; Whitsett, JA; Martin, LJ; Kalinichenko, V; Nichols, WC. Association of FOXF1 Genomic Variants With Children and Adults With Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2025; 211(Supplement_1):a3275-a3275.

Greene, CA; Hampton, G; Jaworski, J; Shuey, MM; Khan, A; Luo, Y; Jarvik, GP; Namjou-Khales, B; Edwards, TL; Velez Edwards, DR; Hellwege, JN. Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations. Nature Communications. 2025; 16(1):7770.

Grimes, HN; Mcgowan, ML; Sinclair, JA; Prows, CA; Lipstein, EA; Myers, MF. Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study. Journal of Genetic Counseling. 2025; 34(3):e70027.

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. 2025; e64289.

Harrison, TB; Sinclair, JA; Martin, LJ; Childers-Buschle, K; Elder, H; Fu, S; Liu, H; Brinkman, WB; Myers, MF; Mcgowan, ML. Representation is power: traditional, hybrid, and digital recruitment results from a non-randomized clinical trial engaging adolescents. npj Digital Medicine. 2025; 8(1):601.

Harvey, LD; Alotaibi, M; Tai, Y-Y; Tang, Y; Kim, H-JJ; Kelly, NJ; Sun, W; Woodcock, C-SC; Arshad, S; Culley, MK; Bertero, T; Benza, RL; Jain, M; Chan, SY. Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension. Science. 2025; 387(6732):eadn7277.

Hindmarch, CCT; Potus, F; Al-Qazazi, R; Ott, BP; Nichols, WC; Rauh, MJ; Archer, SL. Tet Methylcytosine Dioxygenase 2 (TET2) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (PAH): Correlation With Altered Gene Expression Relevant to a Common T Cell Phenotype. Comprehensive Physiology. 2025; 15(2):e70011.

Hopkin, RJ; Salomone, F; Hughes, D; Bernat, JA; Linhart, A; Longo, N; Tøndel, C; Vujkovac, B; Pisani, A; Knoll, J; Chertkoff, R; Alon, S; Sakov, A; Wallace, EL. Évaluation de la relation entre les réactions liées à la perfusion et les anticorps antimédicament statut : résultats de 111 patients atteints de la maladie de Fabry traités par pegunigalsidase alfa. Revue de Medecine Interne. 2025; 46:a582-a583.

Hopkin, RJ; Laney, D; Kazemi, S; Walter, A. Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters). Orphanet Journal of Rare Diseases. 2025; 20(1):433.

Hopkin, RJ; Byrne, BJ; Dimachkie, MM; Kishnani, PS; Mozaffar, T; Roberts, M; Schoser, B; Van Der Ploeg, AT; Brudvig, J; Fox, B; Holdbrook, F; Jain, V; Johnson, F; Zhang, J; Parenti, G. Miglustat: A first-in-class enzyme stabilizer for late-onset Pompe disease. Molecular Genetics and Metabolism. 2025; 144(2):108766.

Hopkin, RJ; Sanchez-Valle, A; Font-Montgomery, EE; Goker-Alpan, O; Ortiz, D; Whitley, CB; Wilcox, WR; Jiang, H; Lawson, LA; Vosk, J; Yang, H; Ramaswami, U. Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension. Molecular Genetics and Metabolism. 2025; 144(2):108769.

Hopkin, RJ; Hughes, D; Bernat, JA; Linhart, A; Longo, N; Tøndel, C; Vujkovac, B; Pisani, A; Knoll, J; Koulinska, I; Piotti, G; Chertkoff, R; Alon, S; Sakov, A; Wallace, EL. Evaluating the relationship between infusion-related reactions and anti-drug antibody status: Results from 111 patients with Fabry disease treated with pegunigalsidase alfa. Molecular Genetics and Metabolism. 2025; 144(2):108768.

Hughes, D; Wilcox, W; Hopkin, RJ; Ganesh, J; Bernat, J; Goker-Alpan, O; Nicholls, K; Deegan, P; Pahl, M; Whitley, CB; Chen, M; Cao, L; Schreeb, KH. Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR) Molecular Genetics and Metabolism. 2025; 144(2):108773.

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. 2025.

Johnson, J; Dasmahapatra, P; Gwaltney, C; Hamed, A; Hopkin, RJ; Lyn, N. The development of a new questionnaire (Fabry Disease Patient-Reported Outcome) to measure the symptoms and impacts of Fabry disease: a plain language summary. Future Rare Diseases. 2025; 5(1):2489848.

Kallish, S; Camporeale, A; Hopkin, RJ; Jovanovic, A; Nordbeck, P; Veleva-Rotse, BO; Krusinska, E; Torra, R. Long-term efficacy of migalastat in females with Fabry disease. Journal of Medical Genetics. 2025; 62(12):798-807.

Kamihara, J; Schienda, J; Mcgee, RB; Friedman, DN; Rednam, SP; Brzezinski, JJ; Kim, SY; Becktell, KD; Lupo, PJ; Gallie, BL; Greer, M-LC; Hansford, JR; Brodeur, GM. Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children. Clinical Cancer Research. 2025; 31(9):1573-1579.

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.

Kettler, M; Simpson, B; Meinzen-Derr, J; Atzinger, C; Hannum, C; Choo, D; Buck, L; Marchesci, L. Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome. Journal of the American Academy of Audiology. 2025; 36(1):45-52.

Kim, SY; Wohler, E; Gutierrez, MJ; Sadreameli, C; Kossoff, E; Sobreira, NL. Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods. American Journal of Medical Genetics, Part A. 2025; 197(3):e63925.

Koch, RL; Fares, AH; Cocanougher, BT; Lim, J; Haijer-Schreuder, AB; Derks, TGJ; Grünert, SC; Sharma, R; Jones, KA; Kishnani, PS. PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia. npj Genomic Medicine. 2025; 10(1):71.

Kotliar, D; Curtis, M; Agnew, R; Weinand, K; Nathan, A; Baglaenko, Y; Slowikowski, K; Zhao, Y; Sabeti, PC; Rao, DA; Raychaudhuri, S. Reproducible single-cell annotation of programs underlying T cell subsets, activation states and functions. Nature Methods. 2025; 22(9):1964-1980.

Laney, DA; Hopkin, RJ; Al-Shaar, L; Muschol, NM; Ponce, E; Polgreen, L. Improved growth in children with Fabry disease during treatment with agalsidase beta: A Fabry Registry analysis. Molecular Genetics and Metabolism. 2025; 144(2):108819.

Lape, M; Schnell, D; Parameswaran, S; Ernst, K; O'connor, S; Salomonis, N; Martin, LJ; Harnett, BM; Kottyan, LC; Weirauch, MT. A survey of pathogenic involvement in non-communicable human diseases. Communications Medicine. 2025; 5(1):242.

Le, T; Htun, S; Pandey, MK; Sun, Y; Magnusen, AF; Ullah, E; Lauzon, J; Beres, S; Lee, C; Guan, B; Hufnagel, RB; Brooks, BP; Baranzini, SE; Slavotinek, A. A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression. Frontiers in Cell and Developmental Biology. 2025; 13:1522094.

Leung, ML; Caylor, RC; D'annibale, O; Mcclure, M; Narumanchi, T; Sack, LM; South, ST. A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2025; 27(6):101391.

Liu, V; Hanson, E; Owens, JW; Hopkin, RJ; Shillington, A. A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy. Brain and Behavior. 2025; 15(2):e70276.

Longo, N; Hopkin, RJ; Giraldo, P; Ortiz, D; Kimonis, V; Wang, M; Koulinska, I; Alon, S; Chertkoff, R; Maugeri, C; Goker-Alpan, O. Lower rate of infusion-related reactions in patients with Fabry disease after switching from agalsidase beta to pegunigalsidase alfa. Molecular Genetics and Metabolism. 2025; 144(2):108840.

Macaraeg, M; Baker, E; Handorf, E; Matt, M; Baker, EK; Brunner, H; Grom, AA; Henrickson, M; Huggins, J; Zhang, W; Lee, P; Marsh, R; Schulert, GS. Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers. Arthritis & Rheumatology. 2025; 77(5):596-605.

Magnusen, AF; Hopkin, RJ; Vorhees, C; Wilson, E; Moehlman, M; Hallinan, B; Erickson, C; Delbello, MP; Marsili, L; Coufal, NG; Pandey, MK. Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder. Brain, Behavior, & Immunity - Health. 2025; 48:101091.

Malbos, M; Gautier, T; Shillington, A; Colin, E; Le Guillou, X; Caluseriu, O; Isidor, B; Cogné, B; Mignot, C; Keren, B; Thauvin-Robinet, C; Govin, J; Vitobello, A; Faivre, L. Further phenotypical delineation of DLG3-related neurodevelopmental disorders. European Journal of Human Genetics. 2025; 33(12):1585-1595.

Martin, LJ; He, H; Spagna, D; Jenkins, S; Grashel, B; Chang, WC; Williams, L; Hammonds, M; Johansson, E; Sherenian, MG; Biagini, JM; Satish, L; Kottyan, L; Khurana Hershey, GK. Genome-wide cross-trait analysis of heterogeneous outcomes in early life atopic dermatitis. Pediatric Allergy and Immunology. 2025; 36(12):e70253.

Michaeli, O; Kim, SY; Mitchell, SG; Jongmans, MCJ; Wasserman, JD; Perrino, MR; Das, A; Macfarland, SP; Scollon, SR; Greer, M-LC; Schultz, KAP; Foulkes, WD; Woodward, ER; Stewart, DR. Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes. Clinical Cancer Research. 2025; 31(3):457-465.

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