Human Genetics

Abell, K; Hopkin, RJ; Bender, PL; Jackson, F; Smallwood, K; Sullivan, B; Stottmann, RW; Saal, HM; Weaver, KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. American Journal of Medical Genetics, Part A. 2021; 185:413-423.

Aryamvally, A; Myers, MF; Huang, T; Slone, J; Pilipenko, V; Hartmann, JE. Mitochondrial replacement therapy: Genetic counselors' experiences, knowledge, and opinions. Journal of Genetic Counseling. 2021.

Badlam, JB; Badesch, DB; Austin, ED; Benza, RL; Chung, WK; Farber, HW; Feldkircher, K; Frost, AE; Poms, AD; Lutz, KA; et al. United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. Chest. 2021; 159:311-327.

Bein, K; Ganguly, K; Martin, TM; Concel, VJ; Brant, KA; Peter Di, YP; Upadhyay, S; Fabisiak, JP; Vuga, LJ; Kaminski, N; et al. Genetic determinants of ammonia-induced acute lung injury in mice. American Journal of Physiology - Lung Cellular and Molecular Physiology. 2021; 320:L41-L62.

Brooks, CC; Martin, LJ; Pilipenko, V; He, H; LeMasters, GK; Lockey, JE; Bernstein, DI; Ryan, PH; Hershey, GK K; Myers, JM B. NAT1 genetic variation increases asthma risk in children with secondhand smoke exposure. The Journal of asthma research. 2021; 58:284-292.

Cal-Kayitmazbatir, S; Kulkoyluoglu-Cotul, E; Growe, J; Selby, CP; Rhoades, SD; Malik, D; Oner, H; Asimgil, H; Francey, LJ; Sancar, A; et al. CRY1-CBS binding regulates circadian clock function and metabolism. FEBS Journal. 2021; 288:614-639.

Chidambaran, V; Pilipenko, V; Jegga, AG; Geisler, K; Martin, LJ. Systems Biology Guided Gene Enrichment Approaches Improve Prediction of Chronic Post-surgical Pain After Spine Fusion. Frontiers in Genetics. 2021; 12.

Corbau, R; Miranda, C; Comper, F; Kalcheva, P; Chisari, E; Cocita, C; Correia, S; Pandya, J; Liou, B; Northcott, N; et al. FLT201: An AAV-mediated gene therapy for type 1 Gaucher disease designed to target difficult to reach tissues. Molecular Genetics and Metabolism. 2021; 132:s28-s29.

Crews, KR; Monte, AA; Huddart, R; Caudle, KE; Kharasch, ED; Gaedigk, A; Dunnenberger, HM; Leeder, JS; Callaghan, JT; Samer, CF; et al. Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy. Clinical Pharmacology and Therapeutics. 2021.

Dellon, ES; Shaheen, O; Koutlas, NT; Chang, AO; Martin, LJ; Rothenberg, ME; Jensen, ET. Early life factors are associated with risk for eosinophilic esophagitis diagnosed in adulthood. Diseases of the Esophagus. 2021; 34.

DeVore, S; Stevens, M; He, H; Myers, JB; Kroner, J; Martin, L; Hershey, GK. CARD14 is Required for FLG Homeostasis in Human Skin, and the CARD14 Variant Rs11652075 Regulates the Expression of FLG in a Genotype-Dependent Fashion. Journal of Allergy and Clinical Immunology. 2021; 147.

Finn, KS; Lynch, J; Aufox, S; Bland, S; Chung, W; Halverson, C; Hebbring, S; Hoell, C; Holm, I; Jarvik, G; et al. Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network. American Journal of Medical Genetics, Part A. 2021; 185:508-516.

Gonzalez, T; Stevens, ML; Kyzy, AB; Alarcon, R; He, H; Kroner, JW; Spagna, D; Grashel, B; Sidler, E; Martin, LJ; et al. Biofilm propensity of Staphylococcus aureus skin isolates is associated with increased atopic dermatitis severity and barrier dysfunction in the MPAACH pediatric cohort. Allergy: European Journal of Allergy and Clinical Immunology. 2021; 76:302-313.

Jallaq, SA; Verba, M; Strawn, JR; Martin, LJ; DelBello, MP; Ramsey, LB. CYP2D6 Phenotype Influences Aripiprazole Tolerability in Pediatric Patients with Mood Disorders. Journal of Child and Adolescent Psychopharmacology. 2021; 31:56-62.

Johansson, E; Martin, LJ; He, H; Chen, X; Weirauch, MT; Kroner, JW; Khurana Hershey, GK; Biagini, JM. Second-hand smoke and NFE2L2 genotype interaction increases paediatric asthma risk and severity. Clinical and Experimental Allergy. 2021.

Laney, DA; Germain, DP; Oliveira, JP; Burlina, AP; Cabrera, GH; Hong, G; Hopkin, RJ; Niu, D; Thomas, M; Trimarchi, H; et al. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience. Molecular Genetics and Metabolism. 2021; 132.

Li, C; Desai, AK; Gupta, P; Dempsey, K; Bhambhani, V; Hopkin, RJ; Ficicioglu, C; Tanpaiboon, P; Craigen, WJ; Rosenberg, AS; et al. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genetics in Medicine. 2021.

Lukacs, M; Blizzard, LE; Stottmann, RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Human Molecular Genetics. 2021; 29:1205-1217.

Lyles, JL; Martin, LJ; Shoda, T; Collins, MH; Trimarchi, MP; He, H; Kottyan, LC; Mukkada, VA; Rothenberg, ME. Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants. Journal of Allergy and Clinical Immunology. 2021; 147:244-254.e6.

Martin, LJ; Murrison, LB; Butsch Kovacic, M. Building a Population Representative Pediatric Biobank: Lessons Learned From the Greater Cincinnati Childhood Cohort. Frontiers in Public Health. 2021; 8.

McTiernan, N; Gill, H; Prada, CE; Pachajoa, H; Lores, J; Arnesen, T; study, CA U S E S. NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. European Journal of Human Genetics. 2021; 29:280-288.

Moran, EE; Bressman, SB; Ortega, RA; Raymond, D; Nichols, WC; Palmese, CA; Elango, S; Swan, M; Shanker, V; Perera, I; et al. Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers. Frontiers in Neurology. 2021; 12.

Niss, O; Lorsbach, RB; Berger, M; Chonat, S; McLemore, M; Buchbinder, D; McCavit, T; Shaffer, LG; Simpson, J; Schwartz, JH; et al. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells, Molecules, and Diseases. 2021; 87.

Oatman, N; Dasgupta, N; Arora, P; Choi, K; Gawali, MV; Gupta, N; Parameswaran, S; Salomone, J; Reisz, JA; Lawler, S; et al. Mechanisms of stearoyl CoA desaturase inhibitor sensitivity and acquired resistance in cancer. Science advances. 2021; 7.

Pater, CM; Gutmark-Little, I; Tretter, JT; Martin, LJ; Backeljauw, P; Brown, NM. Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation. American Journal of Medical Genetics, Part A. 2021; 185:141-149.

Pham, D; Kudira, R; Xu, L; Valencia, CA; Ellis, JL; Shi, T; Evason, KJ; Osuji, I; Matuschek, N; Pfuher, L; et al. Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms: ABCC12 pathogenic variants lead to cholestasis. Gastroenterology. 2021.

Ramaswami, U; Leonowens, C; Goker-Alpan, O; Wilcox, WR; Hopkin, RJ; Sanchez-Valle, A; Schmith, V; Skuban, N; Johnson, F. Migalastat 150 mg every other day achieves bioequivalent exposures in adolescent and adult patients with Fabry disease. Molecular Genetics and Metabolism. 2021; 132.

Sherenian, MG; Kothari, A; Biagini, JM; Kroner, JW; Baatyrbek kyzy, A; Johannson, E; Atluri, G; He, H; Martin, LJ; Khurana Hershey, GK. Sensitization to peanut, egg or pets is associated with skin barrier dysfunction in children with atopic dermatitis. Clinical and Experimental Allergy. 2021.

Shillington, A; Lamy, M; Vawter-Lee, M; Erickson, C; Saal, H; Comoletti, D; Abell, K. Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?. Journal of Autism and Developmental Disorders. 2021; 51:371-376.

Simpson, BN; Khattar, D; Saal, H; Prada, CE; Choo, D; Marcheschi, L; Wiley, S; Hopkin, RJ. CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia. European Journal of Medical Genetics. 2021; 64.

Sole-Navais, P; Bacelis, J; Helgeland, Ø; Modzelewska, D; Vaudel, M; Flatley, C; Andreassen, O; Njølstad, PR; Muglia, LJ; Johansson, S; et al. Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. Human Molecular Genetics. 2021; 29:3845-3858.

Solé-Navais, P; Brantsæter, AL; Caspersen, IH; Lundh, T; Muglia, LJ; Meltzer, HM; Zhang, G; Jacobsson, B; Sengpiel, V; Barman, M. Maternal Dietary Selenium Intake during Pregnancy Is Associated with Higher Birth Weight and Lower Risk of Small for Gestational Age Births in the Norwegian Mother, Father and Child Cohort Study. Nutrients. 2021; 13.

Sturchio, A; Dwivedi, AK; Vizcarra, JA; Chirra, M; Keeling, EG; Mata, IF; Kauffman, MA; Pandey, MK; Roviello, G; Comi, C; et al. Genetic parkinsonisms and cancer: a systematic review and meta-analysis. Reviews in the Neurosciences. 2021; 32:159-167.

Sun, Y; Peng, Y; Liou, B; Fannin, V. Novel mechanism of SRT and ERT on recovering the function of mitochondrial and autophagy-lysosomal pathway in Gaucher disease neuronal cell model. Molecular Genetics and Metabolism. 2021; 132.

Wu, G; Lee, YY; Gulla, EM; Potter, A; Kitzmiller, J; Ruben, MD; Salomonis, N; Whitsett, JA; Francey, LJ; Hogenesch, JB; et al. Short-term exposure to intermittent hypoxia leads to changes in gene expression seen in chronic pulmonary disease. eLife. 2021; 10.

Zhang, X; Muglia, LJ. Baby's best Foe-riend: Endogenous retroviruses and the evolution of eutherian reproduction. Placenta. 2021.