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.

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.

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. 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.

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.

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. 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; Weng, C; Wiesner, GL; Yin, X; Kenny, EE. 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.

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.

Ochayon, DE; DeVore, SB; Chang, WC; Krishnamurthy, D; Seelamneni, H; Grashel, B; Spagna, D; Andorf, S; Martin, LJ; Biagini, JM; Waggoner, SN; Khurana Hershey, GK. Progressive accumulation of hyperinflammatory NKG2Dlow NK cells in early childhood severe atopic dermatitis. Science Immunology. 2024; 9:eadd3085.

Owens, JW; Hopkin, RJ; Martin, LJ; Kodani, A; Simpson, BN. Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology. Annals of Human Genetics. 2024; 88:86-100.

Pandey, MK. Immunological harmony: the dynamic influence of cellular and humoral immunity on pregnancy success. 2024; 1:2.

Pandurangi, S; Malik, A; Owens, J; Valencia, CA; Miethke, AG; Marsh, R; Chiang, S; Yang, L; Hopkin, R; Kasten, J; Huggins, J; Gutierrez Sanchez, LH; Castro-Rojas, C; Alquaraish, M. Deleterious variants in TNFAIP3 are associated with type II and seronegative pediatric autoimmune hepatitis. Journal of Hepatology. 2024; 80:e26-e28.

Pascal, JM; McGowan, ML; Blumling, AA; Prows, CA; Lipstein, EA; Myers, MF. Young adults' reasoning for involving a parent in a genomic decision-making research study. Journal of Genetic Counseling. 2024; 33:653-665.

Pavlicev, M; McDonough-Goldstein, CE; Zupan, AM; Muglia, L; Hu, YC; Kong, F; Monangi, N; Dagdas, G; Zupancic, N; Maziarz, J; Sinner, D; Zhang, G; Wagner, G; Muglia, L. A common allele increases endometrial Wnt4 expression, with antagonistic implications for pregnancy, reproductive cancers, and endometriosis. Nature Communications. 2024; 15:1152.

Petrow, E; Feng, C; Frazer-Abel, A; Marangoni, RG; Lutz, K; Nichols, WC; Holers, VM; Ritchlin, C; White, RJ; Korman, BD. Utility of factor D and other alternative complement factors as biomarkers in systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH). Seminars in Arthritis and Rheumatism. 2024; 69:152554.

Phua, YL; D'Annibale, OM; Karunanidhi, A; Mohsen, AW; Kirmse, B; Dobrowolski, SF; Vockley, J. A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria. Molecular Genetics and Metabolism. 2024; 142:108495.

Rehman, A; Thomas-Wilson, A; Mau-Them, FT; Tolusso, L; Abyankar, A; Guha, S; Okur, V; Felice, V; Hopkin, R; Wilson, A; Giordano, J; Bréhin, A; Wapner, R; Jobanputra, V. P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing*. 2024; 2:101672.

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Schrader, LA; Ronnekleiv-Kelly, SM; Hogenesch, JB; Bradfield, CA; Malecki, KM C. Circadian disruption, clock genes, and metabolic health. The Journal of Clinical Investigation. 2024; 134:e170998.

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Tobi, M; Zhao, X; Rodriquez, R; Tobi, YY; Ganguly, T; Kuhn, D; McVicker, B; Lawson, MJ; Lieb, J; Lopes, JL. The Innate Immune System Surveillance Biomarker p87 in African Americans and Caucasians with Small High-Grade Dysplastic Adenoma [SHiGDA] and Right-Sided JAK3 Colon Mutations May Explain the Presence of Multiple Cancers Revealing an Important Minority of Patients with JAK3 Mutations and Colorectal Neoplasia. Gastrointestinal Disorders. 2024; 6:497-512.

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Wang, XF; Vigouroux, R; Syonov, M; Baglaenko, Y; Nikolakopoulou, AM; Ringuette, D; Rus, H; DiStefano, PV; Dufour, S; Shabanzadeh, AP; Cloutier, JF; Zlokovic, BV; Carlen, PL; Monnier, PP. The liver and muscle secreted HFE2-protein maintains central nervous system blood vessel integrity. Nature Communications. 2024; 15:1037.

Wang, YZ M; Huber, JF; Flesch, L; Demmel, K; Lane, A; Beebe, DW; Crosby, LE; Hogenesch, JB; Smith, DF; Davies, SM; Dandoy, CE. Trajectory of Sleep, Depression, and Quality of Life in Pediatric HSCT Recipients. Transplantation and Cellular Therapy. 2024; 30:632.e1-632.e5.

Wapner, RJ; Giordano, JL; de Voest, J; Gilmore, KL; Westerfield, L; Tinfow, A; Galloway, S; Tolusso, L; Wong, B; Jackson, F; Chung, W; Clifton, R; Van den Veyver, IB; Vora, NL. 1 Multicenter, prospective cohort of genome sequencing in 750 fetal structural anomalies. American Journal of Obstetrics and Gynecology. 2024; 230:s2.

Wright, JR; Astrovskaya, I; Barns, SD; Goler, A; Zhou, X; Shu, C; Snyder, LA G; Han, B; Aarrestad, A; Abbeduto, L; Choi, YB; Clark, N; Clark, R; Coffman, M. Return of genetic research results in 21,532 individuals with autism. Genetics in Medicine. 2024; 26:101202.

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Yang, Y; Wu, G; Sancar, A; Hogenesch, JB. Mutations of the circadian clock genes Cry, Per, or Bmal1 have different effects on the transcribed and nontranscribed strands of cycling genes. Proceedings of the National Academy of Sciences of USA. 2024; 121:e2316731121.

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