Human Genetics

Publications

Adutwum, M; Hurst, A; Mirzaa, G; Kushner, JD; Rogers, C; Khalek, N; Cristancho, AG; Burrill, N; Seifert, ME; Scarano, MI; et al. Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients. Clinical Genetics: an international journal of genetics and molecular medicine. 2023; 103:97-102.

Alkhatib, D; Vega, JA; Pour-Ghaz, I; Al-Taweel, O; Khan, S; DeCarr, K; Bath, A; Rawal, A; Wilbanks, D; Raja, J; et al. Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry. Molecular Genetics and Metabolism. 2023; 138:107538.

Alotaibi, M; Liu, Y; Magalang, GA; Kwan, AC; Ebinger, JE; Nichols, WC; Pauciulo, MW; Jain, M; Cheng, S. Deriving Convergent and Divergent Metabolomic Correlates of Pulmonary Arterial Hypertension. Metabolites. 2023; 13:802.

Alotaibi, M; Shao, J; Pauciulo, MW; Nichols, WC; Hemnes, AR; Malhotra, A; Kim, NH; Yuan, JX J; Fernandes, T; Kerr, KM; et al. Metabolomic Profiles Differentiate Scleroderma-PAH From Idiopathic PAH and Correspond With Worsened Functional Capacity. Chest. 2023; 163:204-215.

Atzinger, C. Evaluation in Supervision. A Practical Guide to Clinical Supervision in Genetic Counseling. : Oxford University Press (OUP); Oxford University Press (OUP); 2023.

Bacino, C; Savarirayan, R; Wilcox, W; Harmatz, P; Phillips, J; Polgreen, L; Tofts, L; Ozono, K; Arundel, P; Irving, M; et al. O22: A randomized controlled trial of vosoritide in infants and toddlers with achondroplasia*. 2023; 1:100118.

Badlam, J; Badesch, D; Benza, r; Callas, P; Chung, W; Elliott, G; Farber, H; Frost, A; Nichols, B; Pauciulo, M; et al. Abstract 14112: Reproductive Risk Factors and Pulmonary Arterial Hypertension in Women. Circulation. 2023; 148.

Baker, EK; Al Gharaibeh, FN; Bove, K; Calvo-Garcia, MA; Shillington, A; VandenHeuvel, K; Cortezzo, DM E. A novel RYR1 variant in an infant with a unique fetal presentation of central core disease. American Journal of Medical Genetics, Part A. 2023; 191:1646-1651.

Baker, EK; Brewer, CJ; Ferreira, L; Schapiro, M; Tenney, J; Wied, HM; Kline-Fath, BM; Smolarek, TA; Weaver, KN; Hopkin, RJ. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. American Journal of Medical Genetics, Part A. 2023; 191:526-539.

Baker, EK; Han, J; Langley, WA; Reott, MA; Hallinan, BE; Hopkin, RJ; Zhang, W. RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature. Molecular Genetics and Genomics: an international journal. 2023; 298:1185-1199.

Beaumont, RN; Flatley, C; Vaudel, M; Wu, X; Chen, J; Moen, GH; Skotte, L; Helgeland, Ø; Solé-Navais, P; Banasik, K; et al. Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Nature Genetics. 2023; 55:1807-1819.

Berset, AE; Myers, MF; Prows, CA; Brinkman, WB. Adolescent Decision-Making Involvement in the Receipt of Genomic Testing Results. The Journal of Pediatrics. 2023; 259:113492.

Biagini, J; Martin, L; He, H; Bacharier, L; Gebretsadik, T; Hartert, T; Jackson, D; Kim, H; Miller, R; Rivera-Spoljaric, K; et al. The Pediatric Asthma Risk Score: A New Gold Standard for Asthma Prediction. Journal of Allergy and Clinical Immunology. 2023; 151:ab320.

Biagini, JM; Martin, LJ; He, H; Bacharier, LB; Gebretsadik, T; Hartert, TV; Jackson, DJ; Kim, H; Miller, RL; Rivera-Spoljaric, K; et al. Performance of the Pediatric Asthma Risk Score across Diverse Populations. 2023; 2.

Bian, F; Lan, YW; Zhao, S; Deng, Z; Shukla, S; Acharya, A; Donovan, J; Le, T; Milewski, D; Bacchetta, M; et al. Lung endothelial cells regulate pulmonary fibrosis through FOXF1/R-Ras signaling. Nature Communications. 2023; 14:2560.

Bichet, DG; Hopkin, RJ; Aguiar, P; Allam, SR; Chien, YH; Giugliani, R; Kallish, S; Kineen, S; Lidove, O; Niu, DM; et al. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. Frontiers in Medicine. 2023; 10:1220637.

Bilston, L; Uminski, K; Kalfa, TA; Husami, A; Goodyear, MD; Rydz, N. A Novel Beta Globin Frameshift Mutation Causing Autosomal Dominant Beta Thalassemia. Blood. 2023; 142:1105.

Blatt, C; Schramm, J; Yang, J; Griffiths, M; Brandal, S; Damico, RL; Vaidya, D; Simpson, C; Kolb, T; Pauciulo, M; et al. Abstract 13128: IGFBP8 as a Novel Biomarker for Hemodynamics and Functional Status in Pulmonary Arterial Hypertension. Circulation. 2023; 148.

Blatt, C; Yang, J; Barnes, A; Griffiths, M; Damico, RL; Simpson, C; Kolb, T; Pauciulo, M; Nichols, B; Ivy, DD; et al. Abstract 13857: Slit2/ROBO4 Ligand-Receptor Pair as Novel Biomarkers for Survival in Pulmonary Arterial Hypertension. Circulation. 2023; 148.

Bosch, E; Popp, B; Güse, E; Skinner, C; van der Sluijs, PJ; Maystadt, I; Pinto, AM; Renieri, A; Bruno, LP; Granata, S; et al. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine. 2023; 25:100950.

Brewer, C; Coyan, A; Jones, B; Yu, HJ; Smolarek, T; Liu, J. 51. Rare SRY-positive derivative X chromosome in female fetus with apparently normal development. Cancer genetics. 2023; 278:16.

Brin, MF; Kirby, RS; Slavotinek, A; Adams, AM; Parker, L; Ukah, A; Radulian, L; Elmore, MR P; Yedigarova, L; Yushmanova, I. Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update. Neurology. 2023; 101:e103-e113.

Bunce, C; Barske, L; Zhang, G; Capel, B. Biased precursor ingression underlies the center-to-pole pattern of male sex determination in mouse. Development (Cambridge). 2023; 150:dev201060.

Butsch Kovacic, M; Elshaer, S; Baker, TA; Hill, V; Morris, E; Mabisi, K; Snider, I; Gertz, S; Hershberger, S; Martin, LJ. The Eyewitness Community Survey: An Engaging Citizen Science Tool to Capture Reliable Data while Improving Community Participants' Environmental Health Knowledge and Attitudes. International Journal of Environmental Research and Public Health. 2023; 20:6374.

Cal-Kayitmazbatir, S; Francey, LJ; Lee, Y; Liu, AC; Hogenesch, JB. PSMD11 modulates circadian clock function through PER and CRY nuclear translocation. Editor, Foulkes NS. PloS one. 2023; 18:e0283463.

Ceolan, J; Seu, K; Ntoumaziou, A; Elgammal, Y; Emberesh, S; Bilston, L; Richards, D; Dickerson, KE; Chonat, S; Rydz, N; et al. Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation. Blood. 2023; 142:2459.

Chai, Y; Lee, SS Y; Shillington, A; Du, X; Fok, CK M; Yeung, KC; Siu, GK Y; Yuan, S; Zheng, Z; Tsang, HW S; et al. Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate. IBRO Neuroscience Reports. 2023; 15:218-224.

Chen, H; Barske, L; Talbot, JC; Dinwoodie, OM; Roberts, RR; Farmer, DT; Jimenez, C; Merrill, AE; Tucker, AS; Crump, JG. Nuclear receptor Nr5a2 promotes diverse connective tissue fates in the jaw. Developmental Cell. 2023; 58:461-473.e7.

Clayton, EW; Smith, ME; Anderson, KC; Chung, WK; Connolly, JJ; Fullerton, SM; McGowan, ML; Peterson, JF; Prows, CA; Sabatello, M; et al. Studying the impact of translational genomic research: Lessons from eMERGE. The American Journal of Human Genetics. 2023; 110:1021-1033.

Dahal, A; Chang, W; Almasri, C; Johansson, E; makenna eversole, ; Velasquez, V; spagna, d; jenkins, s; Grashel, B; Satish, L; et al. Low non-lesional filaggrin mediates longitudinal Staphylococcus aureus skin colonization, leading to worse atopic dermatitis clinical outcomes in the MPAACH cohort. Journal of Allergy and Clinical Immunology. 2023; 151:ab192.

Daniels, K; Board, S; Brown, C; Qu’d, D; Nelson, B; Li, D; Bhoj, E; Simpson, B; Sobering, A. P312: Expanding the phenotypic description and allelic heterogeneity of the KAT6B-related disorder. 2023; 1:100340.

De Sainte Agathe, JM; Pode-Shakked, B; Naudion, S; Michaud, V; Arveiler, B; Fergelot, P; Delmas, J; Keren, B; Poirsier, C; Alkuraya, FS; et al. ARF1-related disorder: phenotypic and molecular spectrum. Journal of medical genetics. 2023; 60:999-1005.

Deegan, PB; Goker-Alpan, O; Geberhiwot, T; Hopkin, RJ; Lukina, E; Tylki-Szymanska, A; Zaher, A; Sensinger, C; Gaemers, SJ M; Modur, V; et al. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Molecular Genetics and Metabolism. 2023; 138:106963.

DeVore, S; Schuetz, M; Lujan, H; Ohayon, D; Kothari, A; He, H; Hahn, J; Satish, L; Herr, A; Biagini, J; et al. CARD14 is a Novel Regulator of MYC Expression and Function in Human Keratinocytes. Journal of Allergy and Clinical Immunology. 2023; 151:ab127.

Doherty, AC; Huddleston, DA; Horn, PS; Ratner, N; Simpson, BN; Schorry, EK; Aschbacher-Smith, L; Prada, CE; Gilbert, DL. Motor Function and Physiology in Youth With Neurofibromatosis Type 1. Pediatric Neurology. 2023; 143:34-43.

Dolin, R; Heale, BS E; Gupta, R; Alvarez, C; Aronson, J; Boxwala, A; Gothi, SR; Husami, A; Shalaby, J; Babb, L; et al. Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants. Learning Health Systems. 2023; 7:e10385.

Dolin, RH; Heale, BS E; Alterovitz, G; Gupta, R; Aronson, J; Boxwala, A; Gothi, SR; Haines, D; Hermann, A; Hongsermeier, T; et al. Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration. Journal of the American Medical Informatics Association. 2023; 30:485-493.

Dominick, KC; Zappia, K; Shillington, A; Fosdick, CM; Lamy, M; Erickson, CA. 27.4 Catatonia in Neurodevelopmental Disorders and the Creation of a Neurobehavioral Catatonia Specialty Clinic. Journal of the American Academy of Child and Adolescent Psychiatry. 2023; 62:s366-s367.

Eapen, A; Sitarik, A; Biagini, J; Jackson, D; Joseph, C; Kim, H; Martin, L; Rivera-Spoljaric, K; Schauberger, E; Wegienka, G; et al. Longitudinal assessment of Allergic Outcomes and Atopic Dermatitis Phenotypes in The Children's Respiratory and Environmental Workgroup (CREW) Birth Cohort Consortium. Journal of Allergy and Clinical Immunology. 2023; 151:ab146.

Eichstaedt, CA; Belge, C; Chung, WK; Gräf, S; Grünig, E; Montani, D; Quarck, R; Tenorio-Castano, JA; Soubrier, F; Trembath, RC; et al. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2023; 61:2201471.

Elgammal, Y; Risinger, M; Husami, A; Walden, J; Gupta, S; Shah, NC; Boyer, J; Abajas, YL; Winstead, M; Miller, DW; et al. Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR). Blood. 2023; 142:1079.

Elshaer, S; Martin, LJ; Baker, TA; Roberts, E; Rios-Santiago, P; Kaufhold, R; Butsch Kovacic, M. Environmental Health Knowledge Does Not Necessarily Translate to Action in Youth. International Journal of Environmental Research and Public Health. 2023; 20:3971.

Feldman, J; Bhimarao Nagaraj, C; Collins, K; Wakefield, E; He, H; Myers, M; Wusik, K. Comparison of genetic testing documentation between genetic counselors and non-genetic counselors. Journal of Genetic Counseling. 2023; 32:635-645.

Fu, H; Zheng, H; Chen, X; Weirauch, MT; Muglia, LJ; Wang, L; Liu, Y. NOMe-HiC: joint profiling of genetic variant, DNA methylation, chromatin accessibility, and 3D genome in the same DNA molecule. Genome Biology: biology for the post-genomic era. 2023; 24:50.

Furuta, GT; Fillon, SA; Williamson, KM; Robertson, CE; Stevens, MJ; Aceves, SS; Arva, NC; Chehade, M; Collins, MH; Davis, CM; et al. Mucosal Microbiota Associated With Eosinophilic Esophagitis and Eosinophilic Gastritis. Journal of Pediatric Gastroenterology and Nutrition. 2023; 76:347-354.

Ge, X; Schulze, K; Stephenson, K; Wu, LS-F; Baker, S; Ali, H; Shaikh, S; Monangi, N; Zhang, G; Landero, J; et al. P07-023-23 Human Milk Zinc, Copper, and Selenium Concentrations at 3 Months Postpartum Among Bangladeshi Women: Associations With Maternal Plasma Mineral Concentrations. Current Developments in Nutrition. 2023; 7:101014.

Gilene, S; Raskin, S; Roy, S; Knapke, S. PATH-46. A NOVEL POT1-TPD PRESENTATION: A GERMLINE POT1 MUTATION DISCOVERED IN A PATIENT WITH NEWLY DIAGNOSED POSTERIOR FOSSA EPENDYMOMA. Neuro-Oncology. 2023; 25:v178.

Gill, K; Moore, C; Nwogu, O; Kroner, JW; Chang, W; Stevens, ML; Kyzy, AB; Biagini, JM; Devonshire, AL; Kottyan, L; et al. B cell repertoire in children with skin barrier dysfunction supports altered IgE maturation associated with allergic food sensitization. 2023; 4:2023.02.01.526538.

Gonsalves, N; Doerfler, B; Zalewski, A; Yang, GY; Martin, LJ; Zhang, X; Shoda, T; Brusilovsky, M; Aceves, S; Thompson, K; et al. Prospective study of an amino acid-based elemental diet in an eosinophilic gastritis and gastroenteritis nutrition trial. Journal of Allergy and Clinical Immunology. 2023; 152:676-688.

Gumz, ML; Shimbo, D; Abdalla, M; Balijepalli, RC; Benedict, C; Chen, Y; Earnest, DJ; Gamble, KL; Garrison, SR; Gong, MC; et al. Toward Precision Medicine: Circadian Rhythm of Blood Pressure and Chronotherapy for Hypertension - 2021 NHLBI Workshop Report. Hypertension. 2023; 80:503-522.

Hernández, G; Romero-Cortadellas, L; Ferrer-Cortès, X; Venturi, V; Dessy-Rodriguez, M; Olivella, M; Husami, A; de Soto, CP; Morales-Camacho, RM; Villegas, A; et al. Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica: the hematology journal. 2023; 108:581-587.

Hiremath, G; Sun, L; Collins, MH; Bonis, PA; Arva, NC; Capocelli, KE; Chehade, M; Davis, CM; Falk, GW; Gonsalves, N; et al. Esophageal Epithelium and Lamina Propria Are Unevenly Involved in Eosinophilic Esophagitis. Clinical Gastroenterology and Hepatology. 2023; 21:2807-2816.e3.

Hong, J; Wong, B; Rhodes, CJ; Kurt, Z; Schwantes-An, T; Mickler, EA; Gräf, S; Eyries, M; Lutz, KA; Pauciulo, MW; et al. Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension. 2023; 4:2023.01.12.523812.

Hoover-Fong, J; Savarirayan, R; Tofts, L; Irving, M; Wilcox, W; Bacino, C; Font, RU; Harmatz, P; Rutsch, F; Bober, M; et al. P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study*. 2023; 1:100222.

Hopkin, RJ; Cabrera, GH; Jefferies, JL; Yang, M; Ponce, E; Brand, E; Feldt-Rasmussen, U; Germain, DP; Guffon, N; Jovanovic, A; et al. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Molecular Genetics and Metabolism. 2023; 138:106967.

Hopkin, RJ; Ganesh, J; Deegan, P; Goker-Alpan, O; Bernat, J; Wilcox, WR; Pahl, MV; Whitley, CB; Hughes, D; Nicholls, K; et al. STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results. Molecular Genetics and Metabolism. 2023; 138:107152.

Hughes, DA; Bichet, DG; Giugliani, R; Hopkin, RJ; Krusinska, E; Nicholls, K; Olivotto, I; Feldt-Rasmussen, U; Sakai, N; Skuban, N; et al. Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. Journal of medical genetics. 2023; 60:722-731.

Jose, A; Elwing, JM; Kawut, SM; Pauciulo, MW; Sherman, KE; Nichols, WC; Fallon, MB; McCormack, FX. Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension. Communications Biology. 2023; 6:826.

Jovanovic, A; Nordbeck, P; Pisani, A; Nowak, A; Feldt-Rasmussen, U; Brand, E; Hughes, DA; Bichet, DG; West, ML; Nicholls, K; et al. Clinical characteristics of female patients enrolled in the FollowME Fabry Pathfinders registry. Molecular Genetics and Metabolism. 2023; 138:107173.

Kaur, M; Blair, J; Devkota, B; Fortunato, S; Clark, D; Lawrence, A; Kim, J; Do, W; Semeo, B; Katz, O; et al. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. American Journal of Medical Genetics, Part A. 2023; 191:2113-2131.

Kishnani, PS; Diaz-Manera, J; Toscano, A; Clemens, PR; Ladha, S; Berger, KI; Kushlaf, H; Straub, V; Carvalho, G; Mozaffar, T; et al. Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial. JAMA Neurology. 2023; 80:558-567.

Kliewer, KL; Gonsalves, N; Dellon, ES; Katzka, DA; Abonia, JP; Aceves, SS; Arva, NC; Besse, JA; Bonis, PA; Caldwell, JM; et al. One-food versus six-food elimination diet therapy for the treatment of eosinophilic oesophagitis: a multicentre, randomised, open-label trial. The Lancet Gastroenterology and Hepatology. 2023; 8:408-421.

Kliewer, KL; Murray-Petzold, C; Collins, MH; Abonia, JP; Bolton, SM; DiTommaso, LA; Martin, LJ; Zhang, X; Mukkada, VA; Putnam, PE; et al. Benralizumab for eosinophilic gastritis: a single-site, randomised, double-blind, placebo-controlled, phase 2 trial. The Lancet Gastroenterology and Hepatology. 2023; 8:803-815.

Koritala, BS C; Lee, YY; Gaspar, LS; Bhadri, SS; Su, W; Wu, G; Francey, LJ; Ruben, MD; Gong, MC; Hogenesch, JB; et al. Obstructive sleep apnea in a mouse model is associated with tissue-specific transcriptomic changes in circadian rhythmicity and mean 24-hour gene expression. Editor, Hattar S. PLoS biology. 2023; 21:e3002139.

Kotsopoulos, J; Gronwald, J; Huzarski, T; Aeilts, A; Randall Armel, S; Karlan, B; Singer, CF; Eisen, A; Tung, N; Olopade, O; et al. Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation. Breast Cancer Research and Treatment. 2023; 201:257-264.

Lee, YY; Endale, M; Wu, G; Ruben, MD; Francey, LJ; Morris, AR; Choo, NY; Anafi, RC; Smith, DF; Liu, AC; et al. Integration of genome-scale data identifies candidate sleep regulators. Sleep. 2023; 46:zsac279.

Leikauf, GD; Bein, K; Prows, DR. Inorganic Compounds of Carbon, Nitrogen, and Oxygen. Patty's Toxicology. : Wiley; Wiley; 2023.

Lin, HT; Gupta, A; Bove, KE; Szabo, S; Xu, F; Krentz, A; Shillington, AL. Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis. Journal of Pediatric Genetics. 2023; 12:246-253.

Lin, Y; Zhao, X; Liou, B; Fannin, V; Zhang, W; Liu, Y; Wang, X; Pan, D; Grabowski, G; Liu, C; et al. Earlier-onset, more severe neurodegeneration in PGRN KO mice with a decreased dose of D409V Gba1. Molecular Genetics and Metabolism. 2023; 138:107207.

Linder, JE; Allworth, A; Bland, HT; Caraballo, PJ; Chisholm, RL; Clayton, EW; Crosslin, DR; Dikilitas, O; DiVietro, A; Esplin, ED; et al. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genetics in Medicine. 2023; 25:100006.

Linder, JE; Tao, R; Chung, WK; Kiryluk, K; Liu, C; Weng, C; Connolly, JJ; Hakonarson, H; Harr, M; Leppig, KA; et al. Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. The American Journal of Human Genetics. 2023; 110:1950-1958.

Marsili, L; Magnusen, AF; Trivedi, VS; Slavotinek, AM; Pandey, MK. Embracing the Science of Motherhood: Pregnancy's Transformative Effects on the Central Nervous System and the Radiance of Maternal Hormones and Immune Responses. Discovery medicine. 2023; 35:673-696.

Matula, KA; Blumling, AA; Myers, MF; McGowan, ML; Lipstein, EA. Adolescents' and Parents' Perspectives on a Novel Decision-Making Process for Return of Results in Genomic Research. Journal of Empirical Research on Human Research Ethics. 2023; 18:278-283.

Miraldi Utz, V; Ebert, JJ; Brightman, DS; Simpson, BN; Benoit, S; Sisk, RA. Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report. Ophthalmic Genetics (Informa). 2023; 44:89-92.

Ng, R; Harris, J; Kleefstra, T; Morgan, AT; Simpson, B. Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery. Frontiers in Genetics. 2023; 14:1338078.

Norton, M; Lianoglou, B; Shear, M; Ackerman, S; Sahin-Holodlugil, N; Kvale, M; Van Ziffle, J; Devine, WP; Hodoglugil, U; Martin, P; et al. O40: Clinical utility of prenatal exome sequencing in a diverse cohort*. 2023; 1:100647.

Ortega, R; Burbulla, L; Mileva, I; Taylor, G; Cuperlovic-Culf, M; Glickman, A; Pullman, M; Scherzer, C; Raymond, D; Miltenyi-Miltenberger, G; et al. Peripheral Sphingolipids as Potential Biomarkers of Parkinson disease Including Sex-Related Differences (P3-11.007). Neurology. 2023; 100.

Pandey, MK. Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases. Biomedicines. 2023; 11:1067.

Pandey, MK. Uncovering the Lipid Web: Discovering the Multifaceted Roles of Lipids in Human Diseases and Therapeutic Opportunities. International Journal of Molecular Sciences. 2023; 24:13223.

Pandey, MK; Trivedi, VS; Magnusen, AF; Rani, R; Woods, CK; DiPasquale, BA. Complement Turning Violent in Ultra-Rare Genetic Disorder. Journal of immunology (Baltimore, Md. : 1950). 2023; 210:153.04.

Pasanen, A; Karjalainen, MK; Zhang, G; Tiensuu, H; Haapalainen, AM; Ojaniemi, M; Feenstra, B; Jacobsson, B; Palotie, A; Laivuori, H; et al. Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci. Editor, Lynch VJ. PLoS Genetics. 2023; 19:e1010982.

Peña, LD M; Burrage, LC; Enns, GM; Esplin, ED; Harding, C; Mendell, JR; Niu, ZN; Scharfe, C; Yu, T; Koeberl, DD; et al. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2023; 25:100831.

Peng, Y; Liou, B; Lin, Y; Mayhew, CN; Fleming, SM; Sun, Y. iPSC-derived neural precursor cells engineering GBA1 recovers acid β-glucosidase deficiency and diminishes α-synuclein and neuropathology. Molecular Therapy-Methods & Clinical Development. 2023; 29:185-201.

Pennington, J; Rasnick, E; Martin, LJ; Biagini, JM; Mersha, TB; Parsons, A; Khurana Hershey, GK; Ryan, P; Brokamp, C. Racial Fairness in Precision Medicine: Pediatric Asthma Prediction Algorithms. American Journal of Health Promotion. 2023; 37:239-242.

Penon-Portmann, M; Hodoglugil, U; Arun P, W; Yip, T; Slavotinek, A; Tenney, JL. TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American Journal of Medical Genetics, Part A. 2023; 191:1077-1082.

Phelan, K; Dill-McFarland, K; Kothari, A; daniel spagna, ; seth jenkins, ; Grashel, B; Burkle, J; Martin, L; david haslam, ; Biagini, J; et al. Airway transcriptome networks identify susceptibility to frequent asthma exacerbations in children. Journal of Allergy and Clinical Immunology. 2023; 151:ab73.

Phelan, KJ; Dill-McFarland, KA; Kothari, A; Segnitz, RM; Burkle, J; Grashel, B; Jenkins, S; Spagna, D; Martin, LJ; Haslam, DB; et al. Airway transcriptome networks identify susceptibility to frequent asthma exacerbations in children. Journal of Allergy and Clinical Immunology. 2023; 152:73-83.

Polgreen, LE; Savarirayan, R; Wilcox, WW; Harmatz, P; Phillips, J; Tofts, L; Ozono, K; Arundel, P; Irving, M; Bacino, CA; et al. A randomized controlled trial of vosoritide in infants and toddlers with Achondroplasia. Zeitschrift für Geburtshilfe und Neonatologie. 2023; 227:e165-e166.

Priestley, JR C; Deshwar, AR; Murthy, H; D'Agostino, MD; Dupuis, L; Gangaram, B; Gray, C; Jobling, R; Pannia, E; Platzer, K; et al. Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine. 2023; 25:100863.

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