Human Genetics

Publications

Beatty, K; Deepak Verma, A; 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.

Biesecker, BB; Ackerman, SL; Brothers, KB; East, KM; Foreman, AK M; 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; 27:101363.

Blanc, A; Laurent, F; Barbier-Chebbah, A; Van Assel, H; Cocanougher, BT; Jones, BM W; Hague, P; Zlatic, M; Chikhi, R; Vestergaard, CL; Jovanic, T; Masson, JB; Barré, C. Statistical signature of subtle behavioral changes in large-scale assays. Editor, Marinazzo D. PLoS Computational Biology. 2025; 21: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:e2010.

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:e70067.

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:e2462176.

Connolly, JJ; Hess, M; Maripuri, P; Terek, S; Purcell, J; Harr, MH; Mentch, FD; Glessner, JT; Shah, R; Prows, CA; Karavite, DJ; Thayer, JG; Grundmeier, RW; Hakonarson, H. Correspondence on "Weighty matters: Considering the ethics of genetic risk scores for obesity " by C. Houtz. Genetics in Medicine. 2025; 27:101324.

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; 145:109104.

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. Editor, Das SP. Case Reports in Genetics. 2025; 2025:4501466.

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.

Gilene, S; Knapke, S; Leino, D; Roy, S; Raskin, S. A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma. Cancer genetics. 2025; 292-293:38-43.

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:e70027.

Harvey, LD; Alotaibi, M; Tai, YY; Tang, Y; Kim, HJ J; Kelly, NJ; Sun, W; Woodcock, CS C; 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:eadn7277.

Hindmarch, CC T; 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:e70011.

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; 144:108766.

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; 144:108768.

Hopkin, RJ; Martins, AM; Alton, J; Tøndel, C. Plain Language Summary: Looking at treatment outcomes in people with Fabry disease who started agalsidase beta before the age of 30 years. Future Rare Diseases. 2025; 4:2383163.

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; 144:108769.

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; 144:108773.

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

Keefe, AC; Jensen, DM; Pham, MM; Au, NY T; Beckman, E; Penon-Portmann, M; Shelkowitz, E; Bend, R; Morrow, MM; Kruszka, P; Lund, TC; Eichler, FS; Sun, A; Bennett, JT. Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. npj Genomic Medicine. 2025; 10:38.

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:e63925.

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; 144:108819.

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.

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: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; 144:108840.

Macaraeg, M; Baker, E; Handorf, E; Matt, M; 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 and Rheumatology. 2025; 77:596-605.

Michaeli, O; Kim, SY; Mitchell, SG; Jongmans, MC J; Wasserman, JD; Perrino, MR; Das, A; MacFarland, SP; Scollon, SR; Greer, MC; Schultz, KA P; 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; 31:457-465.

Miley, AE; Patronick, J; Zhang, N; Bode, RL; Fabio, A; Treble-Barna, A; Chima, RS; Adlam, AL R; Bell, MJ; Wisniewski, SR; Walson, K; West, AN; Willyerd, A; Zimmerman, J. Social Environment and Neurobehavioral Outcomes 1 Year After Severe Pediatric TBI in the Intensive Care Unit. The Journal of Head Trauma Rehabilitation. 2025; 40:147-156.

Mozaffar, T; Byrne, BJ; Dimachkie, M; Hopkin, RJ; Kishnani, P; Roberts, M; Schoser, B; Van Der Ploeg, A; 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 (P10-2.012). Neurology. 2025; 104.

Myers, MF; Atzinger, CL. Survey research in genetic counseling. Journal of Genetic Counseling. 2025; 34.

Olson, M; Anderson, J; Knapke, S; Kushner, A; Martin, L; Statile, C; Shikany, A; Miller, EM. Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center. Journal of Genetic Counseling. 2025; 34:e1984.

Pappas, A; Mooney, M; Kohnen, K; Owens, JW; Zhang, W; Hopkin, RJ; Shillington, A. The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome ": A case report of the 7th diagnosed individual and review of the literature. Clinical Case Reports. 2025; 13:e9208.

Peron, A; D’Arco, F; Aldinger, KA; Smith-Hicks, C; Zweier, C; Gradek, GA; Bradbury, K; Accogli, A; Andersen, EF; Au, PY B; Guillemot, F; Dobyns, WB; Viskochil, D; Dias, C. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. European Journal of Human Genetics. 2025; 33:312-324.

Pickart, AM; Martin, AS; Gross, BN; Dellefave-Castillo, LM; McCallen, LM; Nagaraj, CB; Rippert, AL; Schultz, CP; Ulm, EA; Armstrong, N. Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling. 2025; 34:e1892.

Ramaswami, U; Font-Montgomery, E; Goker-Alpan, O; Ortiz, D; Sanchez-Valle, A; Whitley, CB; Wilcox, WR; Jiang, H; Lawson, LA; Vosk, J; Yang, H; Hopkin, RJ. Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension. Molecular Genetics and Metabolism. 2025; 145:109102.

Ramaswami, U; Font-Montgomery, EE; Goker-Alpan, O; Ortiz, D; Sanchez-Valle, A; Whitley, CB; Wilcox, WR; Jiang, H; Lawson, LA; Vosk, J; Yang, H; Hopkin, RJ. Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension. Molecular Genetics and Metabolism. 2025; 144:108910.

Ricks, SJ; Johnson, J; Ayers, KB; Pena, LD M. Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature. Journal of Genetic Counseling. 2025; 34:e70033.

Robinson, JF; Das, S; Khan, W; Khanam, R; Price, JT; Rahman, A; Ahmed, S; Ali, SM; Deb, S; Deveale, B; Jehan, F; Sazawal, S; Stringer, JS A; Fisher, SJ. High rates of placental inflammation among samples collected by the Multi-Omics for Mothers and Infants consortium. American Journal of Obstetrics and Gynecology. 2025; 232:230.e1-230.e19.

Sabeh, P; Dumas, SA; Maios, C; Daghar, H; Korzeniowski, M; Rousseau, J; Lines, M; Guerin, A; Millichap, JJ; Landsverk, M; Antonarakis, SE; Parker, JA; Burnett, BG; Campeau, PM. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. The American Journal of Human Genetics. 2025; 112:75-86.

Savarirayan, R; De Bergua, JM; Arundel, P; Salles, JP; Saraff, V; Delgado, B; Leiva-Gea, A; McDevitt, H; Nicolino, M; Rossi, M; Raj, S; Hoover-Fong, J; Irving, M; Rogoff, D. Oral Infigratinib Therapy in Children with Achondroplasia. The New England Journal of Medicine. 2025; 392:865-874.

Savarirayan, R; Muslimova, E; Bergua, J; Arundel, P; Salles, J; Saraff, V; Delgado, B; Leiva-Gea, A; McDevitt, H; Nicolino, M; Raj, S; Hoover-Fong, J; Irving, M; Rogoff, D. O13: Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study. Genetics in Medicine Open. 2025; 3:102089.

Schultz, KA P; MacFarland, SP; Perrino, MR; Mitchell, SG; Kamihara, J; Nelson, AT; Mallinger, PH R; Brzezinski, JJ; Maxwell, KN; Woodward, ER; Foulkes, WD; Michaeli, O; Bauer, AJ; Stewart, DR. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clinical Cancer Research. 2025; 31:234-244.

Sebastião, YV; Thiruvengadam, R; Khanam, R; Mehmood, U; Pervin, J; Ayushi, ; Desiraju, BK; Kabole, F; Ahmed, S; Aktar, S; Jehan, F; Baqui, AH; Stringer, JS A; Bhatnagar, S. Association between gestational weight gain and adverse pregnancy outcomes: cohort analysis from South Asia and Sub-Saharan Africa. 2025; 3:e000900.

Srivastava, AK; Juodakis, J; Sole-Navais, P; Chen, J; Bacelis, J; Teramo, K; Hallman, M; Njølstad, PR; Evans, DM; Jacobsson, B; Muglia, LJ; Zhang, G. Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes. Editor, Cordell HJ. PLoS Genetics. 2025; 21:e1011575.

Strawn, JR; Mills, JA; Neptune, ZA; Burgei, A; Schroeder, HK; Martin, LJ; Farrow, J; Poweleit, EA; Ramsey, LB. Electronically Monitored Antidepressant Adherence in Adolescents with Anxiety Disorders: A Pilot Study. Journal of Child and Adolescent Psychopharmacology. 2025; 35:145-154.

Talarico, M; de Bellescize, J; De Wachter, M; Le Guillou, X; Le Meur, G; Egloff, M; Isidor, B; Cogné, B; Beysen, D; Rollier, P; Õunap, K; Kury, S; Cabet, S; Lesca, G. RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures. Genetics in Medicine. 2025; 27:101347.

Theobald, K; Jackson, F; Lopes, J; Shillington, A; Chaib, H; Dawson, B; Kinga-Bakienga, L; Pauciulo, M; Slavotinek, A. P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study. Genetics in Medicine Open. 2025; 3:102227.

Williams, A; Smolarek, TA; Myers, M; Balow, S; Tolusso, L; Pilipenko, V. 38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States. Genetics in Medicine Open. 2025; 3:101955.

Xu, X; Lo, CW; Martin, LJ; Han, L; Xu, D. Editorial: Recent advances in causes, diagnosis, and therapeutics for congenital heart defects. Frontiers in Genetics. 2025; 16:1564492.

Yu, LX; Johnson, J; Pennesi, CM; Ernst, MM; Strine, A; Matheny Antommaria, AH; Hopkin, RJ; Sandberg, DE; Khorashad, B; Mohnach, L; Heider, A; Rutter, MM. Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency. Frontiers in Pediatrics. 2025; 13:1549400.

Zehr, K; Buckley, M; Owens, JW; Vanagunas, T; Fernandez, PV; Hopkin, RJ; Shillington, A. A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression. American Journal of Medical Genetics, Part A. 2025; 197:e64000.