Human Genetics

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.

Arya, R; Spaeth, C; Zhang, W. Epilepsy phenotypes associated with MAP1B-related brain malformations. Epileptic Disorders. 2021; 23:392-396.

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; 30:828-837.

Bachir, S; Shah, S; Shapiro, S; Koehler, A; Mahammedi, A; Samy, RN; Zuccarello, M; Schorry, E; Sengupta, S. Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis. International Journal of Molecular Sciences. 2021; 22.

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.

Blumling, AA; Childers-Buschle, KE; Lynch, JA; Myers, MF; McGowan, ML. The Underdeveloped "Gift ": Ethics in Implementing Precision Medicine Research. American Journal of Bioethics. 2021; 21:67-69.

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.

Brunet, T; McWalter, K; Mayerhanser, K; Anbouba, GM; Armstrong-Javors, A; Bader, I; Baugh, E; Begtrup, A; Bupp, CP; Callewaert, BL; et al. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genetics in Medicine. 2021; 23:384-395.

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.

Chidambaran, V; Zhang, X; Pilipenko, V; Chen, X; Wronowski, B; Geisler, K; Martin, LJ; Barski, A; Weirauch, MT; Ji, H. Methylation quantitative trait locus analysis of chronic postsurgical pain uncovers epigenetic mediators of genetic risk. Epigenomics. 2021; 13:613-630.

Clarkston, K; Lee, J; Donoghue, S; Peters, H; Eiroa, H; Shah, AA; Loomes, K; Wen, J; Oliver, M; Hardikar, W; et al. Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females. American Journal of Medical Genetics, Part A. 2021; 185:909-915.

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.

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.

Guilder, L; Prada, CE; Saenz, S; Jain-Ghai, S; Karp, N; Mazariegos, G; Ratko, S; Salvarinova, R; Mercimek-Andrews, S. Hyperleucinosis during infections in maple syrup urine disease post liver transplantation. Molecular Genetics and Metabolism Reports. 2021; 27.

Hoell, C; Aufox, S; Nashawaty, N; Myers, MF; Smith, ME. Comprehension and personal value of negative non-diagnostic genetic panel testing. Journal of Genetic Counseling. 2021; 30:418-427.

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; 51:801-810.

Johnson, CC; Havstad, SL; Ownby, DR; Joseph, CL M; Sitarik, AR; Biagini Myers, J; Gebretsadik, T; Hartert, TV; Khurana Hershey, GK; Jackson, DJ; et al. Pediatric Asthma Incidence Rates in the United States from 1980 to 2017. Journal of Allergy and Clinical Immunology. 2021.

Legius, E; Messiaen, L; Wolkenstein, P; Pancza, P; Avery, RA; Berman, Y; Blakeley, J; Babovic-Vuksanovic, D; Cunha, KS; Ferner, R; et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine. 2021.

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; 23:845-855.

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.

Magnusen, AF; Hatton, SL; Rani, R; Pandey, MK. Genetic Defects and Pro-inflammatory Cytokines in Parkinson's Disease. Frontiers in Neurology. 2021; 12.

Martin, LJ; Benson, DW. Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects. Genes. 2021; 12.

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.

Murrison, LB; Ren, X; Preusse, K; He, H; Kroner, J; Chen, X; Jenkins, S; Johansson, E; Biagini, JM; Weirauch, MT; et al. TSLP disease-associated genetic variants combined with airway TSLP expression influence asthma risk. Journal of Allergy and Clinical Immunology. 2021.

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.

Oldham, WM; Hemnes, AR; Aldred, MA; Barnard, J; Brittain, EL; Chan, SY; Cheng, F; Cho, MH; Desai, AA; Garcia, JG N; et al. NHLBI-CMREF Workshop Report on Pulmonary Vascular Disease Classification: JACC State-of-the-Art Review. Journal of the American College of Cardiology. 2021; 77:2040-2052.

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.

Payne, JM; Haebich, KM; MacKenzie, R; Walsh, KS; Hearps, SJ C; Coghill, D; Barton, B; Pride, NA; Ullrich, NJ; Tonsgard, JH; et al. Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1. Journal of Attention Disorders. 2021; 25:1177-1186.

Powell, SK; Almeneisi, H; Alsaied, T; Shikany, A; Riley, L; Miller, E; Belonis, A; Weaver, KN; Brown, N; Mori, S; et al. Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys-Dietz Syndrome. Pediatric Cardiology. 2021; 42:1157-1161.

Pratt, VM; Turner, A; Broeckel, U; Dawson, DB; Gaedigk, A; Lynnes, TC; Medeiros, EB; Moyer, AM; Requesens, D; Ventrini, F; et al. Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: A GeT-RM Collaborative Project. Journal of Molecular Diagnostics. 2021.

Riddle, A; Nagaraj, U; Hopkin, RJ; Kline-Fath, B; Venkatesan, C. Fetal Magnetic Resonance Imaging (MRI) in Holoprosencephaly and Associations With Clinical Outcome: Implications for Fetal Counseling. Journal of Child Neurology. 2021; 36:357-364.

Riddle, S; Lim, FY; Rutter, M; Saal, HM; Kingma, P. Fetal Micrognathia and Airway Establishment on Placental Support. NeoReviews. 2021; 22:e73-e77.

Rios, JJ; Richards, BS; Stevenson, DA; Oberlander, B; Viskochil, D; Gross, AM; Dombi, E; Widemann, BC; Plotkin, SR; May, CJ; et al. Are Some Randomized Clinical Trials Impossible?. Journal of Pediatric Orthopaedics. 2021; 41:e90-e93.

Rodríguez-Palmero, A; Boerrigter, MM; Gómez-Andrés, D; Aldinger, KA; Marcos-Alcalde, Í; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V; et al. DLG4-related synaptopathy: a new rare brain disorder. Genetics in Medicine. 2021; 23:888-899.

Saal, HM. ROBIN SEQUENCE. Cassidy and Allanson's Management of Genetic Syndromes. 2021.

Safroneeva, E; Pan, Z; King, E; Martin, LJ; Collins, MH; Yang, G; Capocelli, KE; Arva, NC; Abonia, JP; Atkins, D; et al. Long-Lasting Dissociation of Esophageal Eosinophilia and Symptoms Following Dilation in Adults with Eosinophilic Esophagitis. Clinical Gastroenterology and Hepatology. 2021.

Schnur, RE; Yousaf, S; Liu, J; Chung, WK; Rhodes, L; Marble, M; Zambrano, RM; Sobreira, N; Jayakar, P; Pierpont, ME; et al. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genetics in Medicine. 2021.

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; 51:666-673.

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.

Silva-Sánchez, MP; Alvarado-Socarras, JL; Castro-Monsalve, J; Meneses, KM; Santiago, J; Prada, CE. Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas. American Journal of Medical Genetics, Part A. 2021; 185:1525-1531.

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.

Stjepanovic, N; Lubinski, J; Moller, P; Randall Armel, S; Foulkes, WD; Tung, N; Neuhausen, SL; Kotsopoulos, J; Sun, P; Sun, S; et al. Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment. 2021; 187:515-523.

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.

Swietlik, EM; Greene, D; Zhu, N; Megy, K; Cogliano, M; Rajaram, S; Pandya, D; Tilly, T; Lutz, KA; Welch, CC L; et al. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circulation: Genomic and Precision Medicine. 2021.

Talley, MJ; Nardini, D; Shabbir, N; Ehrman, LA; Prada, CE; Waclaw, RR. Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon. Frontiers in Cell and Developmental Biology. 2021; 9.

Treble-Barna, A; Wade, SL; Pilipenko, V; Martin, LJ; Yeates, KO; Taylor, HG; Kurowski, BG. Brain-Derived Neurotrophic Factor Val66Met and Behavioral Adjustment after Early Childhood Traumatic Brain Injury. Journal of Neurotrauma. 2021.

Van Gucht, I; Meester, JA N; Bento, JR; Bastiaansen, M; Bastianen, J; Luyckx, I; Van Den Heuvel, L; Neutel, CH G; Guns, PJ; Vermont, M; et al. A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. American Journal of Human Genetics. 2021; 108:1115-1125.

Ware, SM; Wilkinson, JD; Tariq, M; Schubert, JA; Sridhar, A; Colan, SD; Shi, L; Canter, CE; Hsu, DT; Webber, SA; et al. Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study. Journal of the American Heart Association. 2021; 10.

Weiss, BD; Wolters, PL; Plotkin, SR; Widemann, BC; Tonsgard, JH; Blakeley, J; Allen, JC; Schorry, E; Korf, B; Robison, NJ; et al. NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas. Journal of Clinical Oncology. 2021; 39:797-806.

Wortmann, SB; Zietkiewicz, S; Guerrero-Castillo, S; Feichtinger, RG; Wagner, M; Russell, J; Ellaway, C; Mróz, D; Wyszkowski, H; Weis, D; et al. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genetics in Medicine. 2021.

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.

Zoubovsky, SP; Wilder, A; Muglia, L. Using a Murine Model of Psychosocial Stress in Pregnancy as a Translationally Relevant Paradigm for Psychiatric Disorders in Mothers and Infants. Journal of Visualized Experiments. 2021.