Human Genetics


Angelozzi, M; Karvande, A; Molin, AN; Ritter, AL; Leonard, JM M; Savatt, JM; Douglass, K; Myers, SM; Grippa, M; Tolchin, D; et al. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Journal of Medical Genetics. 2022.

Baker, E; Shikany, A; Winlaw, D; Weaver, KN. eP078: Phenotypes and genotypes in a cohort of children with single ventricle congenital heart disease. Genetics in Medicine. 2022; 24:s51-s52.

Berry, L; Linard, S; Leslie, N; Ream, M. Newborn screening for lysosomal disorders: The Ohio experience. Molecular Genetics and Metabolism. 2022; 135.

Biagini, J; Kroner, J; He, H; Grashel, B; Spagna, D; Sherenian, M; Martin, L; Hershey, GK. Longitudinal Atopic Dermatitis Endotypes: An Atopic March Paradigm That Includes Black Children. Journal of Allergy and Clinical Immunology. 2022; 149.

Biagini, JM; Kroner, JW; Baatyrbek kyzy, A; Gonzales, A; He, H; Stevens, M; Grashel, B; Spagna, D; Paul, S; Patel, R; et al. Longitudinal atopic dermatitis endotypes: An atopic march paradigm that includes Black children. Journal of Allergy and Clinical Immunology. 2022; 149:1702-1710.e4.

Bull, MJ; Trotter, T; Santoro, SL; Christensen, C; COUNCIL ON GENETICS, ; Burke, LW; Berry, SA; Geleske, TA; Holm, I; Hopkin, RJ; et al. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022; 149.

Byrne, BJ; Colan, SD; Kishnani, PS; Foster, MC; Sparks, SE; Gibson, JB; An Haack, K; Stockton, DW; Peña, LD M; Hahn, SH; et al. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiology in the Young. 2022; 32:364-373.

Chidambaran, V; Yang, F; Ding, L; Pilipenko, V; Mehta, S; Martin, L; Brokamp, R. Biologic, Demographic and Clinical Factors Associated with Acute Postsurgical Pain in Racially Diverse Pediatric Cohorts Undergoing Major Surgery. Pain Forum. 2022; 23.

Collins, MH; Alexander, ES; Martin, LJ; Grotjan, TM; Mukkada, VA; Sheil, A; Abonia, JP; Putnam, PE; Rothenberg, ME. Acquired Esophageal Strictures in Children: Morphometric and Immunohistochemical Analyses. Pediatric and Developmental Pathology. 2022; 25:124-133.

Collyer, J; Xu, F; Munkhsaikhan, U; Alberson, NF; Orgil, BO; Zhang, W; Czosek, RJ; Lu, L; Jefferies, JL; Towbin, JA; et al. Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction. International Journal of Cardiology. 2022; 347:29-37.

Cortezzo, DE; Tolusso, LK; Swarr, DT. Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18. Journal of Pediatrics. 2022.

Dellon, ES; Gonsalves, N; Abonia, JP; Alexander, JA; Arva, NC; Atkins, D; Attwood, SE; Auth, MK H; Bailey, DD; Biederman, L; et al. International Consensus Recommendations for Eosinophilic Gastrointestinal Disease Nomenclature. Clinical Gastroenterology and Hepatology. 2022.

DeVore, S; Schuetz, M; MacDonald, M; Kothari, A; Grashel, B; Johansson, E; He, H; Biagini, J; Kroner, J; Martin, L; et al. The CARD14 Variant Rs11652075 Interacts with Vitamin D3 to Confer Barrier Dysfunction and Atopic Dermatitis Risk. Journal of Allergy and Clinical Immunology. 2022; 149.

DeVore, SB; Stevens, ML; He, H; Biagini, JM; Kroner, JW; Martin, LJ; Khurana Hershey, GK. Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis. Journal of Allergy and Clinical Immunology. 2022; 149:708-717.

Douzgou, S; Dell’Oro, J; Fonseca, CR; Rei, A; Mullins, J; Jusiewicz, I; Huisman, S; Simpson, BN; Vyshka, K; Milani, D; et al. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. European Journal of Human Genetics. 2022.

Edwards, A; Teusink-Cross, A; Martin, LJ; Prows, CA; Mehta, PA; Ramsey, LB. Influence of CYP2D6 metabolizer status on ondansetron efficacy in pediatric patients undergoing hematopoietic stem cell transplantation: A case series. Clinical and Translational Science. 2022; 15:610-618.

Elfarawi, H; Tolusso, L; McGowan, ML; Cortezzo, DM; Vawter-Lee, M. Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication. Prenatal Diagnosis. 2022; 42:617-627.

Fabelo, C; He, H; Lim, FY; Atzinger, C; Wong, B. Factors impacting surgical decision making between prenatal and postnatal repair for myelomeningocele. Prenatal Diagnosis. 2022; 42:27-36.

Gittens, O; Qu'd, D; Tolusso, L; Brightman, D; Kerkhof, J; Owens, J; Saal, H; Ayala, SS; Shillington, A; Widmeyer, K; et al. eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes. Genetics in Medicine. 2022; 24:s157-s158.

Griffiths, M; Yang, J; Vaidya, D; Nies, M; Brandal, S; Ivy, DD; Hickey, F; Wolter-Warmerdam, K; Austin, ED; Mullen, M; et al. Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension. Journal of Pediatrics. 2022; 241:68-76.e3.

Guilbert, TW; Biagini, JM; Ramsey, RR; Keidel, K; Curtsinger, K; Kroner, JW; Durrani, SR; Stevens, M; Pilipenko, V; Martin, LJ; et al. Treatment by biomarker-informed endotype vs guideline care in children with difficult-to-treat asthma. Annals of Allergy, Asthma and Immunology. 2022; 128:535-543.e6.

Hagen, L; Khattar, D; Whitehead, K; He, H; Swarr, DT; Suhrie, K. Detection and impact of genetic disease in a level IV neonatal intensive care unit. Journal of Perinatology. 2022; 42:580-588.

Hancock, B; Miller, EM; Parrott, A; Weaver, KN; Tretter, JT; Pilipenko, V; Shikany, AR. Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study. Journal of Genetic Counseling. 2022.

Harbaum, L; Rhodes, CJ; Wharton, J; Lawrie, A; Karnes, JH; Desai, AA; Nichols, WC; Humbert, M; Montani, D; Girerd, B; et al. Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2022.

Haskell, MJ; Maleta, K; Arnold, CD; Jorgensen, JM; Fan, YM; Ashorn, U; Matchado, A; Monangi, NK; Zhang, G; Xu, H; et al. Provision of Small-Quantity Lipid-Based Nutrient Supplements Increases Plasma Selenium Concentration in Pregnant Women in Malawi: A Secondary Outcome of a Randomized Controlled Trial. Current Developments in Nutrition. 2022; 6.

Hatton, SL; Pandey, MK. Fat and Protein Combat Triggers Immunological Weapons of Innate and Adaptive Immune Systems to Launch Neuroinflammation in Parkinson's Disease. International Journal of Molecular Sciences. 2022; 23.

Hiremath, G; Sun, L; Correa, H; Acra, S; Collins, MH; Bonis, P; Arva, NC; Capocelli, KE; Falk, GW; King, E; et al. Development and Validation of Web-Based Tool to Predict Lamina Propria Fibrosis in Eosinophilic Esophagitis. American Journal of Gastroenterology. 2022; 117:272-279.

Hopkin, RJ; Bichet, DG; Sunder-Plassmann, G; Nicholls, K; Olivotto, I; Giugliani, R; Krusinska, E; Veleva-Rotse, B; Hughes, D. Long-term multisystemic efficacy with migalastat in ERT-naive and ERT-experienced patients with amenable GLA variants. Molecular Genetics and Metabolism. 2022; 135.

Hu, X; Wang, X; Guan, Q; Wu, Y; Liu, J; Dawson, B; Kalfa, T; Zhang, W. eP420: Clinical utility of a 38-gene NGS panel in diagnosing patients with hemolytic anemia: A retrospective review of 435 cases. Genetics in Medicine. 2022; 24.

Indugula, SR; Ayala, SS; Vetrini, F; Belonis, A; Zhang, W. Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report. Clinical Case Reports. 2022; 10.

Johansson, E; Biagini, J; Martin, L; He, H; Kroner, J; DeVore, S; Spagna, D; Grashel, B; Hershey, GK. Vitamin D, Skin Filaggrin, Allergic Sensitization, and Race: a Complex Interplay. Journal of Allergy and Clinical Immunology. 2022; 149.

Johansson, E; Biagini, JM; Martin, LJ; He, H; Kroner, JW; Almasri, C; Velasquez, V; Sonzogni, M; DeVore, SB; Spagna, D; et al. Vitamin D, skin filaggrin, allergic sensitization, and race. Annals of Allergy, Asthma and Immunology. 2022; 128:399-407.e3.

Laboy Cintron, D; Muir, AM; Scott, A; McDonald, M; Monaghan, KG; Santiago-Sim, T; Wentzensen, IM; De Luca, C; Italian Undiagnosed Diseases Network, ; Brancati, F; et al. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. 2022; 3.

Lee, YY; Cal-Kayitmazbatir, S; Francey, LJ; Bahiru, MS; Hayer, KE; Wu, G; Zeller, MJ; Roberts, R; Speers, J; Koshalek, J; et al. duper is a null mutation of Cryptochrome 1 in Syrian hamsters. Proceedings of the National Academy of Sciences of the United States of America. 2022; 119.

Leppig, KA; Kulchak Rahm, A; Appelbaum, P; Aufox, S; Bland, ST; Buchanan, A; Christensen, KD; Chung, WK; Clayton, EW; Crosslin, D; et al. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genetics in Medicine. 2022; 24:1130-1138.

Lin, Y; Liou, B; Hammonds, J; Mayhew, CN; Sun, Y. Modeling neuronopathic Gaucher disease with human patient-specific midbrain organoids. Molecular Genetics and Metabolism. 2022; 135.

Liu, Y. At the dawn: cell-free DNA fragmentomics and gene regulation. British Journal of Cancer. 2022; 126:379-390.

Lopes, GS; Lopes, JL; Bielinski, SJ; Armasu, SM; Zhu, Y; Cavanaugh, DC; Moyer, AM; Jacobson, DJ; Wang, L; Jiang, R; et al. Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota. Pharmacogenomics Journal. 2022; 22:117-123.

MacDonald, M; Chang, WC; Martin, LJ; Khurana Hershey, GK; Biagini, JM. The Pediatric Asthma Risk Score: More does not mean better. Annals of Allergy, Asthma and Immunology. 2022; 128:729-730.

Madden, JA; Brothers, KK; Williams, JL; Myers, MF; Leppig, KA; Clayton, EW; Wiesner, GL; Holm, IA. Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Genetics in Medicine. 2022; 24:1297-1305.

Marcogliese, PC; Dutta, D; Ray, SS; Dang, ND P; Zuo, Z; Wang, Y; Lu, D; Fazal, F; Ravenscroft, TA; Chung, H; et al. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science advances. 2022; 8.

Mehta, RS; Taylor, ZL; Martin, LJ; Rosen, MJ; Ramsey, LB. SLCO1B1 *15 allele is associated with methotrexate-induced nausea in pediatric patients with inflammatory bowel disease. Clinical and Translational Science. 2022; 15:63-69.

Murrell, JR; Nesbitt, AM I; Baker, SW; Pechter, KB; Balciuniene, J; Zhao, X; Denenberg, EH; DeChene, ET; Wu, C; Jayaraman, P; et al. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?. Journal of Molecular Diagnostics. 2022; 24:274-286.

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. 2022; 149:79-88.

Myers, MF; Bergner, A; Conway, L; Duquette, D; Durst, AL; Yashar, BM; Zhang, X; Campion, MA. A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination. Journal of Genetic Counseling. 2022; 31:302-315.

Namjou, B; Lape, M; Malolepsza, E; DeVore, SB; Weirauch, MT; Dikilitas, O; Jarvik, GP; Kiryluk, K; Kullo, IJ; Liu, C; et al. Multiancestral polygenic risk score for pediatric asthma. Journal of Allergy and Clinical Immunology. 2022.

Neilson, DE; Zech, M; Hufnagel, RB; Slone, J; Wang, X; Homan, S; Gutzwiller, LM; Leslie, EJ; Leslie, ND; Xiao, J; et al. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Movement Disorders. 2022; 37:375-383.

Nordbeck, P; Jovanovic, A; Pisani, A; Nowak, A; Feldt-Rasmussen, U; Brand, E; Hughes, D; Bichet, DG; West, M; Nicholls, K; et al. Baseline demographics and clinical characteristics of patients enrolled in the followME Fabry Pathfinders registry. Molecular Genetics and Metabolism. 2022; 135:s89-s90.

Owens, J; Simpson, B; Hopkin, R. eP203: Genotype/phenotype correlations in Joubert syndrome. Genetics in Medicine. 2022; 24:s125-s126.

Pal, G; Mangone, G; Hill, EJ; Ouyang, B; Liu, Y; Lythe, V; Ehrlich, D; Saunders-Pullman, R; Shanker, V; Bressman, S; et al. Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers. Annals of Neurology. 2022; 91:424-435.

Price, JJ; Urbina, EM; Carlin, K; Becker, R; Daniels, SR; Falkner, BE; Ferguson, M; Hanevold, C; Hooper, SR; Ingelfinger, JR; et al. Cardiovascular Risk Factors and Target Organ Damage in Adolescents: The SHIP AHOY Study. Pediatrics. 2022; 149.

Ramaswami, U; Wilcox, W; Hopkin, RJ; Yang, H; Jiang, H; Lengoc, V. Migalastat HCl 150 mg every other day is well-tolerated and efficacious in adolescent patients with Fabry disease. Molecular Genetics and Metabolism. 2022; 135.

Safroneeva, E; Pan, Z; King, E; Martin, LJ; Collins, MH; Yang, GY; Capocelli, KE; Arva, NC; Abonia, JP; Atkins, D; et al. Long-Lasting Dissociation of Esophageal Eosinophilia and Symptoms After Dilation in Adults With Eosinophilic Esophagitis. Clinical Gastroenterology and Hepatology. 2022; 20:766-775.e4.

Savarirayan, R; De Bergua, JM; Arundel, P; McDevitt, H; Cormier-Daire, V; Saraff, V; Skae, M; Delgado, B; Leiva-Gea, A; Santos-Simarro, F; et al. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Therapeutic Advances in Musculoskeletal Disease. 2022; 14.

Sherenian, M; Filuta, A; Amezcua, P; Ruff, B; Kroner, J; Grashel, B; He, H; Hicks, C; Almasri, C; Biagini, J; et al. Thrombin and Fibrinogen Play a Critical Role in Atopic Dermatitis Pathogenesis. Journal of Allergy and Clinical Immunology. 2022; 149.

Shibuya, Y; Kumar, KK; Mader, MM D; Yoo, Y; Ayala, LA; Zhou, M; Mohr, MA; Neumayer, G; Kumar, I; Yamamoto, R; et al. Treatment of a genetic brain disease by CNS-wide microglia replacement. Science Translational Medicine. 2022; 14.

Shoda, T; Collins, MH; Rochman, M; Wen, T; Caldwell, JM; Mack, LE; Osswald, GA; Besse, JA; Haberman, Y; Aceves, SS; et al. Evaluating Eosinophilic Colitis as a Unique Disease Using Colonic Molecular Profiles: A Multi-Site Study. Gastroenterology. 2022; 162:1635-1649.

Shoda, T; Wen, T; Caldwell, JM; Ben-Baruch Morgenstern, N; Osswald, GA; Rochman, M; Mack, LE; Felton, JM; Abonia, JP; Arva, NC; et al. Loss of Endothelial TSPAN12 Promotes Fibrostenotic Eosinophilic Esophagitis via Endothelial Cell-Fibroblast Crosstalk. Gastroenterology. 2022; 162:439-453.

Toshner, M; Church, C; Harbaum, L; Rhodes, C; Villar Moreschi, SS; Liley, J; Jones, R; Arora, A; Batai, K; Desai, AA; et al. Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension. European Respiratory Journal. 2022; 59.

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. 2022; 39:114-121.

Treble-Barna, A; Wade, SL; Pilipenko, V; Martin, LJ; Yeates, KO; Taylor, HG; Kurowski, BG. Brain-derived neurotrophic factor Val66Met and neuropsychological functioning after early childhood traumatic brain injury. Journal of the International Neuropsychological Society. 2022; 1-11.

Ware, SM; Bhatnagar, S; Dexheimer, PJ; Wilkinson, JD; Sridhar, A; Fan, X; Shen, Y; Tariq, M; Schubert, JA; Colan, SD; et al. The genetic architecture of pediatric cardiomyopathy. American Journal of Human Genetics. 2022; 109:282-298.

Weaver, KN; Care, M; Wakefield, E; Zarate, YA; Skoch, J; Gripp, KW; Prada, CE. Craniosynostosis is a feature of Costello syndrome. American Journal of Medical Genetics, Part A. 2022; 188:1280-1286.

Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al. Robin sequence without cleft palate: Genetic diagnoses and management implications. American Journal of Medical Genetics, Part A. 2022; 188:160-177.

Webster, J; Wiley, S; Schorry, E; Bowers, K; Collins Ruff, K; Riddle, I. Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Journal of Genetic Counseling. 2022; 31:153-163.

Wynn, J; Milo Rasouly, H; Vasquez-Loarte, T; Saami, AM; Weiss, R; Ziniel, SI; Appelbaum, PS; Wright Clayton, E; Christensen, KD; Fasel, D; et al. Do research participants share genomic screening results with family members?. Journal of Genetic Counseling. 2022; 31:447-458.

Yang, J; Ambade, AS; Nies, M; Griffiths, M; Damico, R; Vaidya, D; Brandal, S; Pauciulo, MW; Lutz, KA; Coleman, AW; et al. Hepatoma-derived growth factor is associated with pulmonary vascular remodeling and PAH disease severity and survival. Pulmonary Circulation. 2022; 12.

Yogasundaram, H; Nikhanj, A; Chatur, S; Qi, A; Hagen, L; Bailey, L; Khan, A; Hopkin, RJ; Fine, NM; Jefferies, JL; et al. Burden of Valvular Heart Disease in Patients with Fabry Disease. Journal of the American Society of Echocardiography. 2022; 35:236-238.

Yu, L; Rutter, M; Johnson, J; Ernst, M; Antommaria, A; Hopkin, R; Strine, A; Pennesi, C. Decision-making Regarding Orchiectomy in Patients with 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Clinical Considerations. Journal of Pediatric and Adolescent Gynecology. 2022; 35:229-230.

Zanobetti, A; Ryan, PH; Coull, B; Brokamp, C; Datta, S; Blossom, J; Lothrop, N; Miller, RL; Beamer, PI; Visness, CM; et al. Childhood Asthma Incidence, Early and Persistent Wheeze, and Neighborhood Socioeconomic Factors in the ECHO/CREW Consortium. JAMA Pediatrics. 2022.

Zarate, YA; Morris, SA; Blackshare, A; Algaze, CA; Connor, BS; Kim, AJ; Yutzey, KE; Miller, EM; Weaver, KN; Collins, RT. A clinical scoring system for early onset (neonatal) Marfan syndrome. Genetics in Medicine. 2022.

Zhang, T; Du, X; Gu, Y; Dong, Y; Zhang, W; Yuan, Z; Huang, X; Zou, C; Zhou, Y; Liu, Z; et al. Analysis of Diurnal Variations in Heart Rate: Potential Applications for Chronobiology and Cardiovascular Medicine. Frontiers in Physiology. 2022; 13.

Zhao, C; Lancman, JJ; Yang, Y; Gates, KP; Cao, D; Barske, L; Matalonga, J; Pan, X; He, J; Graves, A; et al. Intrahepatic cholangiocyte regeneration from an Fgf-dependent extrahepatic progenitor niche in a zebrafish model of Alagille Syndrome. Hepatology. 2022; 75:567-583.

Zhao, X; Hasan, S; Liou, B; Lin, Y; Sun, Y; Liu, C. Analysis of the Biomarkers for Neurodegenerative Diseases in Aged Progranulin Deficient Mice. International Journal of Molecular Sciences. 2022; 23.

Zhao, X; Lin, Y; Liou, B; Fannin, V; Hettinghouse, A; Liu, C; Sun, Y. Progranulin deficiency markedly exacerbates Gaucher disease phenotypes in Gba1 mutant mice. Molecular Genetics and Metabolism. 2022; 135.

Zouk, H; Yu, W; Oza, A; Hawley, M; Vijay Kumar, PK; Koch, C; Mahanta, LM; Harley, JB; Jarvik, GP; Karlson, EW; et al. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. Genetics in Medicine. 2022; 24:454-462.