Human Genetics

Publications

Abonia, JP; Rudman Spergel, AK; Hirano, I; Shoda, T; Zhang, X; Martin, LJ; Mukkada, VA; Putnam, PE; Blacklidge, M; Neilson, D; Menard-Katcher, P; Falk, G; Gonsalves, NP; Peterson, K. Losartan Treatment Reduces Esophageal Eosinophilic Inflammation in a Subset of Eosinophilic Esophagitis. The Journal of Allergy and Clinical Immunology: in Practice. 2024; 12:2427-2438.e3.

Abu-El-Haija, M; Zhang, W; Karns, R; Ginzburg, G; Vitale, DS; Farrell, P; Nasr, A; Ibrahim, S; Bellin, MD; Thompson, T; Garlapally, V; Woo, JG; Husain, SZ; Denson, LA. The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children. Clinical Gastroenterology and Hepatology. 2024; 22:2033-2043.e2.

Alstrup, M; Cesca, F; Krawczun-Rygmaczewska, A; López-Menéndez, C; Pose-Utrilla, J; Castberg, FC; Bjerager, MO; Finnila, C; Kruer, MC; Bakhtiari, S; Matthews, N; Saugier-Veber, P; Iglesias, T; Østergaard, E. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genetics in Medicine. 2024; 26:101219.

Arroyo, MS; Fuller, C; Schorry, EK; Ulm, E; Tian, C. Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report. Neurology: Genetics. 2024; 10:e200177.

Austin, ED; Aldred, MA; Alotaibi, M; Gräf, S; Nichols, WC; Trembath, RC; Chung, WK. Genetics and precision genomics approaches to pulmonary hypertension. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2024; 64:2401370.

Balow, SA; Coyan, AG; Smith, N; Russell, BE; Monteil, D; Hopkin, RJ; Smolarek, TA. Complex genomic rearrangements of the Y chromosome in a premature infant. Molecular Cytogenetics. 2024; 17:19.

Bernat, J; Hughes, D; Linhart, A; Hopkin, RJ; Tøndel, C; Warnock, DG; Rup, B; Koulinska, I; Rocco, R; Alon, S; Chertkoff, R; Almon, EB; Sakov, A; Wallace, E. Assessment of immunogenicity from the pegunigalsidase alfa clinical trial program: Integrated analysis of de novo and treatment-boosted anti-drug antibodies. Molecular Genetics and Metabolism. 2024; 141:107771.

Blake, C; Widmeyer, K; DAquila, K; Mochizuki, A; Smolarek, TA; Pillay-Smiley, N; Kim, SY. 14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review. American Journal of Medical Genetics, Part A. 2024; 194:e63604.

Blumling, AA; McGowan, ML; Prows, CA; Childers-Buschle, K; Martin, LJ; Lynch, JA; Dufendach, KR; Lipstein, EA; Kovacic, MB; Brinkman, WB; Myers, MF. Engaging adolescents and young adults in decisions about return of genomic research results: study protocol for a mixed-methods longitudinal clinical trial protocol. BMC Medical Informatics and Decision Making. 2024; 24:391.

Byrd, C; Benza, R; Webb, A; Schramm, J; Yang, J; Griffiths, M; Brandal, S; Damico, R; Vaidya, D; Simpson, C; Hassoun, P; Everett, A; Austin, E; Martin, L. Abstract 4138019: eQTL Analysis of the PAH Biomarker CCN2 Identifies a Novel SNP that Associates with Survival. Circulation. 2024; 150:a4138019.

Cavender, C; Slavotinek, A; Atzinger, C. P395: Hallermann-Streiff syndrome: Characteristic features and diagnostic overlap. 2024; 2:101289.

Chidambaran, V; Duan, Q; Pilipenko, V; Glynn, SM; Sproles, A; Martin, LJ; Lacagnina, MJ; King, CD; Ding, L. The role of cytokines in acute and chronic postsurgical pain after major musculoskeletal surgeries in a quaternary pediatric center. Brain, Behavior, and Immunity. 2024; 122:596-603.

Cho, MT; Davis, C; Lowe, C; Flynn, M; Jamal, L; Bajaj, K; Atzinger, C; Erby, LH. Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies. Journal of Genetic Counseling. 2024; 33:118-123.

Coppola, T; Hughes, H; Finch, PT; Hess, JA; Wu, S; Prada, CE; Miethke, AG; Zhang, W; Kalfa, TA. Case report: Childhood erythrocytosis due to hypermanganesemia caused by homozygous SLC30A10 mutation. 2024; 3:1331485.

Dahal, A; Chang, WC; Almasri, C; Johansson, E; Hurd, M; Velasquez, V; Grashel, B; Spagna, D; Jenkins, S; Morgan, D; Satish, L; Martin, LJ; Biagini, JM; Khurana Hershey, GK. Temporal relationships between Staphylococcus aureus colonization, filaggrin expression, and pediatric atopic dermatitis. Allergy: European Journal of Allergy and Clinical Immunology. 2024; 79:104-115.

Day, ME; Puello, YC; Mejía Sang, ME; Diaz Brockmans, EJ; Díaz Soto, MF; Rivera Defilló, SM; Taveras Cruz, KM; Santiago Pérez, JO; Meña, R; Mota, C; Schlaudecker, EP; Martin, LJ; Simpson, BN; Prada, CE. Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020. Editor, Pabelick C. BioMed Research International. 2024; 2024:3716786.

Deignan, JL; Aggarwal, V; Bale, AE; Bellissimo, DB; Booker, JK; Cao, Y; Crooks, KR; Deak, KL; Del Gaudio, D; Funke, B; Van Ziffle, J; Vance, GH; Vnencak-Jones, CL; Williams, ES. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. 2024; 2:101820.

DeVore, SB; Schuetz, M; Alvey, L; Lujan, H; Ochayon, DE; Williams, L; Chang, WC; Filuta, A; Ruff, B; Kothari, A; Keles, S; Milner, JD; Supp, DM; Khurana Hershey, GK. Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease. Cell Reports. 2024; 43:114589.

Doberstein, R; Pilipenko, V; Pulda, K; Wusik, K; Spaeth, CG. Genetic counseling clinic model expansion: Impact on access for general genetics clinic. Journal of Genetic Counseling. 2024; 33:995-1003.

Du, X; Barnett, CL; Widmeyer, KM; Wang, X; Brightman, DS; Noonan, CW; Weaver, KN; Hopkin, RJ; Wu, Y. RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient. Clinical Case Reports. 2024; 12:e9537.

Emon, I; Al-Qazazi, R; Rauh, M; Vlasschaert, C; Ott, B; McNaughton, A; Potus, F; Pauciulo, M; Bick, A; Nichols, W; Chung, W; Archer, S. Abstract 4138731: Clonal Hematopoiesis of Indeterminant Potential is Associated with Pulmonary Arterial Hypertension. Circulation. 2024; 150:a4138731.

Engel, ER; Wusik, K; Bright, P; Vadivelu, S; Taylor, JM; Hammill, A. Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations. The Journal of Pediatrics. 2024; 264:113761.

Esplin, ED; Hanson, C; Wu, S; Horning, AM; Barapour, N; Nevins, SA; Jiang, L; Contrepois, K; Lee, H; Guha, TK; Curtis, C; Greenleaf, WJ; Ford, JM; Snyder, MP. Multiomic analysis of familial adenomatous polyposis reveals molecular pathways associated with early tumorigenesis. Nature Cancer. 2024; 5:1737-1753.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Journal of the American Medical Association (JAMA). 2024; 331:1276-1278.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Human Genetics and Genomics Advances. 2024; 5:100282.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Obstetrical and Gynecological Survey. 2024; 79:632-633.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Nature Genetics. 2024; 56:555-556.

Feero, WG; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. The American Journal of Human Genetics. 2024; 111:621-623.

Filuta, AL; Amezcua, P; Ruff, BP; Biagini, JM; Kroner, J; He, H; Brandt, EB; Martin, LJ; Palumbo, JS; Khurana Hershey, GK; Sherenian, MG. The key roles of thrombin and fibrinogen in human infant and mice atopic dermatitis models. Allergy: European Journal of Allergy and Clinical Immunology. 2024; 79:239-242.

Gangaram, B; Lee, V; Slavotinek, A. Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American Journal of Medical Genetics, Part A. 2024; 194:e63567.

Gao, L; Skinner, J; Nath, T; Lin, Q; Griffiths, M; Damico, RL; Pauciulo, MW; Nichols, WC; Hassoun, PM; Everett, AD; Johns, RA. Resistin predicts disease severity and survival in patients with pulmonary arterial hypertension. Respiratory Research. 2024; 25:235.

Garzon, JP; Patete, A; Aschbacher-Smith, L; Qu'd, D; Kelly-Mancuso, G; Raski, CR; Weisman, AG; Hankins, M; Sawin, M; Kim, K; Schorry, E; Listernick, R; Simpson, BN; Prada, CE. Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2024; 196:e32095.

Gautam, Y; Satish, L; Ramirez, S; Grashel, B; Biagini, JM; Martin, LJ; Rothenberg, ME; Khurana Hershey, GK; Mersha, TB. Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population. Human Genetics and Genomics Advances. 2024; 5:100350.

Glass, J; Liu, J; Indugula, S; Krueger, D; Ritter, D. P233: PKD1 hypomorphic variant in a girl with tuberous sclerosis complex and polycystic kidneys. 2024; 2:101129.

Goin-Kochel, RP; Lozano, I; Duhon, G; Marzano, G; Daniels, A; Law, JK; Diehl, K; Snyder, LA G; Feliciano, P; Chung, WK. Evidence-based recruitment strategies for clinical research: Study personnel's and research participants' perceptions about successful methods of outreach for a U.S. Autism-Research Cohort. Journal of Clinical and Translational Science. 2024; 8:e65.

Gregory Feero, W; Steiner, RD; Slavotinek, A; Faial, T; Bamshad, MJ; Austin, J; Korf, BR; Flanagin, A; Bibbins-Domingo, K. Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Genetics in Medicine. 2024; 26:101118.

Griffiths, M; Simpson, CE; Yang, J; Vaidya, D; Nies, MK; Brandal, S; Damico, R; Hassoun, P; Ivy, DD; Austin, ED; Benza, RL; Nichols, WC; Manlhiot, C; Everett, AD. Equivalency of Multiple Biomarkers to Clinical Pulmonary Arterial Hypertension Survival Risk Models. Chest. 2024; 166:1511-1531.

Gross, AM; Plotkin, SR; Watts, NB; Fisher, MJ; Klesse, LJ; Lessing, AJ; McManus, ML; Larson, AN; Oberlander, B; Rios, JJ; Sarnoff, H; Simpson, BN; Ullrich, NJ; Stevenson, DA. Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1. Clinical Trials. 2024; 21:29-39.

Ha, T; Morgan, A; Bartos, MN; Beatty, K; Cogné, B; Braun, D; Gerber, CB; Gaspar, H; Kopps, AM; Rieubland, C; Palafoll, MI V; Nawaz, U; Voineagu, I; Slavotinek, A. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American Journal of Medical Genetics, Part A. 2024; 194:e63559.

Haldeman-Englert, CR; Slavotinek, AM. Ciliopathies. Nelson Textbook of Pediatrics: Volume 1-2. 2024.

Haldeman-Englert, CR; Slavotinek, AM. Sonic Hedgehog Pathway. Nelson Textbook of Pediatrics: Volume 1-2. 2024.

Haldeman-Englert, CR; Slavotinek, AM. RAS/MAPK Pathway. Nelson Textbook of Pediatrics: Volume 1-2. 2024.

Haldeman-Englert, CR; Slavotinek, AM. Craniosynostoses. Nelson Textbook of Pediatrics: Volume 1-2. 2024.

Hansford, JR; Das, A; McGee, RB; Nakano, Y; Brzezinski, J; Scollon, SR; Rednam, SP; Schienda, J; Michaeli, O; Kim, SY; Pajtler, KW; Pfister, SM; Brodeur, GM; Kamihara, J. Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clinical Cancer Research. 2024; 30:2342-2350.

Harms, FL; Rexach, JE; Efthymiou, S; Aynekin, B; Per, H; Güleç, A; Nampoothiri, S; Sampaio, H; Sachdev, R; Stoeva, R; Chard, M; Klassen, M; Pries, M; Kutsche, K. Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European Journal of Human Genetics. 2024; 32:558-566.

Harvey, LD; Kim, H; Sun, W; El Khoury, W; St Croix, C; Lee, JY; Pauciulo, M; Desai, A; Webb, A; Benza, RL; Chan, S. GENETIC CONTROL OF LYSOSOMAL DYSFUNCTION REPROGRAMS INFLAMMATORY STEROL METABOLISM IN PULMONARY ARTERIAL HYPERTENSION. Journal of the American College of Cardiology. 2024; 83:4600.

Hindmarch, C; Potus, F; Al-Qazazi, R; Nichols, W; Pauciulo, M; Rauh, M; Archer, S. Abstract 4140468: Tet Methylcytosine Dioxygenase 2 mutation drives a global hypermethylation signature in patients with pulmonary arterial hypertension resulting in a common T cell phenotype. Circulation. 2024; 150:a4140468.

Hong, J; Medzikovic, L; Sun, W; Wong, B; Ruffenach, G; Rhodes, CJ; Brownstein, A; Liang, LL; Aryan, L; Li, M; Geraci, MW; Stearman, RS; Yang, X; Eghbali, M. Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension. Circulation. 2024; 150:1268-1287.

Hooper, SR; Lande, MB; Flynn, JT; Hanevold, CD; Meyers, KE; Samuels, J; Becker, RC; Daniels, SR; Falkner, BE; Ferguson, MA; Mitsnefes, M; Khoury, P; Seo, J; Urbina, EM. Systolic Blood Pressure, Cardiovascular Health, and Neurocognition in Adolescents. Hypertension. 2024; 81:2444-2453.

Hopkin, RJ; Ganesh, J; Bernat, J; Goker-Alpan, O; Nicholls, K; Pahl, MV; Deegan, PB; Whitley, CB; Hughes, D; Cao, L; Chen, M; Shiue, L; Rojkjaer, L; Wilcox, WR. 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. 2024; 141:107884.

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. 2024; 4:2383163.

Hu, J; Korchina, V; Zouk, H; Harden, MV; Murdock, D; Macbeth, A; Harrison, SM; Lennon, N; Kovar, C; Balasubramanian, A; Hynes, ED; Johnson, DK; Jones, LK; Joo, YY. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Research Notes. 2024; 17:62.

Jerves Serrano, T; Gold, J; Cooper, JA; Church, HJ; Tylee, KL; Wu, HY; Kim, SY; Stepien, KM. Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases. Journal of Clinical Medicine. 2024; 13:1465.

Kim, T; Martínez-Bonet, M; Wang, Q; Hackert, N; Sparks, JA; Baglaenko, Y; Koh, B; Darbousset, R; Laza-Briviesca, R; Chen, X; Weirauch, MT; Raychaudhuri, S; Rao, DA; Nigrovic, PA. Non-coding autoimmune risk variant defines role for ICOS in T peripheral helper cell development. Nature Communications. 2024; 15:2150.

Kishnani, PS; Byrne, BJ; Claeys, KG; Díaz-Manera, J; Dimachkie, MM; Kushlaf, H; Mozaffar, T; Roberts, M; Schoser, B; Hummel, N; Khan, A; Dominovic-Kovacevic, A; Pestronk, A; Sebok, A. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. Journal of Patient-Reported Outcomes. 2024; 8:132.

Kurowski, BG; Treble-Barna, A; Pilipenko, V; Martin, LJ; Jegga, AG; Miley, AE; Zhang, N; Fabio, A; Chima, RS; Adlam, AL R; Kaufman, K; Bell, MJ; Beers, SR; Wisniewski, SR; Wade, SL. Elucidating a genomic signature associated with behavioral and executive function after moderate to severe pediatric TBI: a systems biology informed approach. Frontiers in Systems Biology. 2024; 4:1293265.

Laney, DA; Houde, MF; Foley, AL; Peck, DS; Atherton, AM; Manwaring, LP; Grange, DK; Heese, BA; Holida, MD; Quillin, AL; Vinson, R; Auray-Blais, C; Hopkin, RJ. Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study. 2024; 2:101891.

Lee, J; Husami, A; Arora, K; Zhang, W; Kadri, F; Yarlagadda, S; Moon, C; Mun, KS; Zhang, K; Huang, Y; Clancy, JP; Shaikhkhalil, A; Paul, G; Naren, AP. A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms. Pediatric Pulmonology. 2024; 59:229-232.

Lee, TM; Miller, E; Sridhar, A; Fan, X; Dexheimer, PJ; Bansal, N; Godown, J; Hsu, DT; Kantor, P; Kirmani, S; Ware, SM; Chung, WK; Wilkinson, JD; Lipshultz, SE. Pediatric cardiomyopathy illustrates the importance of reinterpreting the significance of genetic variants. Progress in Pediatric Cardiology. 2024; 74:101732.

Lennon, NJ; Kottyan, LC; Kachulis, C; Abul-Husn, NS; Arias, J; Belbin, G; Below, JE; Berndt, SI; Chung, WK; Cimino, JJ; Yin, X; Kenny, EE; Hirschhorn, J; Loos, R. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature Medicine. 2024; 30:480-487.

Lewis, AC F; Chisholm, RL; Connolly, JJ; Esplin, ED; Glessner, J; Gordon, A; Green, RC; Hakonarson, H; Harr, M; Holm, IA; Sterling, R; Terek, S; Wei, WQ; Fullerton, SM. Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. The American Journal of Human Genetics. 2024; 111:999-1005.

Li, D; Wang, Q; Bayat, A; Battig, MR; Zhou, Y; Bosch, DG M; van Haaften, G; Granger, L; Petersen, AK; Pérez-Jurado, LA; Schmidt, R; Randolph, L; Spillmann, RC; Shashi, V. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation. 2024; 134:e171235.

Li, SY; Hammarlund, JA; Wu, G; Lian, JW; Howell, SJ; Clarke, RB; Adamson, AD; Gonçalves, CF; Hogenesch, JB; Anafi, RC; Meng, QJ. Tumor circadian clock strength influences metastatic potential and predicts patient prognosis in luminal A breast cancer. Proceedings of the National Academy of Sciences of USA. 2024; 121:e2311854121.

Lin, Q; Kuypers, M; Baglaenko, Y; Cao, E; Hezaveh, K; Despot, T; de Amat Herbozo, C; Cruz Tleugabulova, M; Umaña, JM; McGaha, TL; Philpott, DJ; Mallevaey, T. The intestinal microbiota modulates the transcriptional landscape of iNKT cells at steady-state and following antigen exposure. Mucosal Immunology. 2024; 17:226-237.

Lin, Y; Zhao, X; Liou, B; Fannin, V; Zhang, W; Setchell, KD R; Wang, X; Pan, D; Grabowski, GA; Liu, CJ; Sun, Y. Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease. Human Molecular Genetics. 2024; 33:1771-1788.

Liu, AC; Shen, Y; Serbinski, CR; He, H; Roman, D; Endale, M; Aschbacher-Smith, L; King, KA; Granadillo, JL; López, I; Krueger, DA; Dye, TJ; Smith, DF; Hogenesch, JB; Prada, CE. Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior. Human Genetics and Genomics Advances. 2024; 5:100333.

Maese, LD; Wlodarski, MW; Kim, SY; Bertuch, AA; Bougeard, G; Chang, VY; Godley, LA; Khincha, PP; Kuiper, RP; Lesmana, H; Scott, HS; Walsh, MF; Nichols, KE; Porter, CC. Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clinical Cancer Research. 2024; 30:4286-4295.

Magnusen, AF; Pandey, MK. Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms. International Journal of Molecular Sciences. 2024; 25:12252.

Mancl, N; Myers, MF; Miller, EM; Jackson, F; Widmeyer, K. Preparedness and training of genetic counselors practicing in inpatient settings. Journal of Genetic Counseling. 2024; 33:539-553.

Marsili, L; Duque, KR; Abanto, J; Chinchihualpa Paredes, NO; Duker, AP; Collins, K; Miranda, M; Bustamante, ML; Pauciulo, M; Dixon, M; Chaib, H; Perez-Maturo, J; Hill, EJ; Espay, AJ; Kauffman, MA. Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. Biomedicines. 2024; 12:2673.

Martin, LJ; Zhang, X; Chehade, M; Davis, CM; Dellon, ES; Falk, GW; Gupta, SK; Hirano, I; Hiremath, GS; Katzka, DA; Yang, GY; Furuta, GT; Rothenberg, ME; Aceves, SS. Long-term durability between parent and child patient-reported outcomes in eosinophilic esophagitis. Journal of Allergy and Clinical Immunology. 2024; 154:1232-1240.e12.

Mavura, Y; Sahin-Hodoglugil, N; Hodoglugil, U; Kvale, M; Martin, PM; Van Ziffle, J; Devine, WP; Ackerman, SL; Koenig, BA; Kwok, PY; Norton, ME; Slavotinek, A; Risch, N. Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. npj Genomic Medicine. 2024; 9:1.

Menard, A. Pediatrics. 2024; 253-258.

Metcalfe, K; Huzarski, T; Gronwald, J; Kotsopoulos, J; Kim, R; Moller, P; Pal, T; Aeilts, A; Eisen, A; Karlan, B; Dungan, J; Fruscio, R; Zovato, S; Cohen, S. Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis. British Journal of Cancer. 2024; 130:269-274.

Mitchell, DL; Chambers, TM; Agopian, AJ; Benjamin, RH; Shumate, CJ; Slavotinek, A; Hufnagel, RB; Brooks, BP; Mitchell, LE; Lupo, PJ. Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Research. 2024; 116:e2413.

Mochizuki, AY; Nagaraj, CB; Depoorter, D; Schieffer, KM; Kim, SY. Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome. American Journal of Medical Genetics, Part A. 2024; 194:e63788.

Moe, M; Sharma, S; Htun, S; Sun, Y; Baranzini, S; Slavotinek, A. P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon. 2024; 2:101624.

Monangi, NK; Xu, H; Fan, YM; Khanam, R; Khan, W; Deb, S; Pervin, J; Price, JT; Kaur, L; Villar, J; Stringer, JS A; Ashorn, P; Zhang, G; Muglia, LJ. Association of maternal prenatal copper concentration with gestational duration and preterm birth: a multicountry meta-analysis. American Journal of Clinical Nutrition. 2024; 119:221-231.

Mozaffar, T; Roberts, M; Byrne, B; Dimachkie, M; Hopkin, R; Kishnani, P; Schoser, B; van der Ploeg, A; Brudvig, J; Fox, B; Holdbrook, F; Jain, V; Johnson, F; Zhang, J; Parenti, G. 671P Miglustat: a first-in-class enzyme stabiliser for late-onset Pompe disease. Neuromuscular Disorders. 2024; 43:104441.729.

Nagaraj, CB; Brightman, DS; Rea, H; Wakefield, E; Harkavy, NV G; Dyer, L; Zhang, W. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3. BMC Pediatrics. 2024; 24:34.

Naito, C; Kosar, K; Kishimoto, E; Pena, L; Huang, Y; Hao, K; Bernieh, A; Kasten, J; Villa, C; Kishnani, P; Deeksha, B; Gu, M; Asai, A. Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV. Molecular Genetics and Metabolism Reports. 2024; 39:101069.

Nordbeck, P; Hughes, DA; Nowak, A; Hopkin, RJ; Veleva-Rotse, BO; Krusinska, E; Jovanovic, A. Multiorgan involvement in females with Fabry disease: Results from two phase III trials and the followME registry. Molecular Genetics and Metabolism. 2024; 141:107985.

Ntoumaziou, A; Nguyen, D; Elgammal, Y; Husami, A; Zhang, W; Weaver, KD; Kasten, JL; Grier, DD; Zheng, Y; Lutzko, C; Risinger, M; Frayne, J; Seu, K; Kalfa, TA. Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis. Blood. 2024; 144:1084.

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