Human Genetics


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. 2022.

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. 2022.

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, EK; Ulm, EA; Belonis, A; Brightman, DS; Hallinan, BE; Leslie, ND; Miethke, AG; Vawter-Lee, M; Wu, Y; Pena, LD M. Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Frontiers in Genetics. 2022; 13.

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.

Bopp, EA; Poweleit, EA; Cox, MO; Farrow, JE; Strawn, JR; Patino Duran, LR; Prows, CA; DelBello, MP; Ramsey, LB. A retrospective examination of adjunctive L-methylfolate in children and adolescents with unipolar depression. Journal of Affective Disorders. 2022; 312:315-321.

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.

Chen, F; Ni, C; Wang, X; Cheng, R; Pan, C; Wang, Y; Liang, J; Zhang, J; Cheng, J; Chin, YE; et al. S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome. EMBO Molecular Medicine. 2022; 14.

Chenbhanich, J; Slavotinek, A; Tam, A. Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. American Journal of Medical Genetics, Part A. 2022; 188:1997-2004.

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, DM E; Tolusso, LK; Swarr, DT. Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18. Journal of Pediatrics. 2022; 247:116-123.e5.

Crossen, K; Berry, L; Myers, MF; Leslie, N; Goueli, C. A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening. International Journal of Neonatal Screening. 2022; 8.

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, 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.

Di Donato, N; Guerrini, R; Billington, CJ; Barkovich, AJ; Dinkel, P; Freri, E; Heide, M; Gershon, ES; Gertler, TS; Hopkin, RJ; et al. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022; 145:3274-3287.

Dias, KR; Carlston, CM; Blok, LE R; De Hayr, L; Nawaz, U; Evans, CA; Bayrak-Toydemir, P; Htun, S; Zhu, Y; Ma, A; et al. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine. 2022; 24:1952-1966.

Dimachkie, MM; Barohn, RJ; Byrne, B; Goker-Alpan, O; Kishnani, PS; Ladha, S; Laforêt, P; Mengel, KE; Peña, LD M; Sacconi, S; et al. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Neurology. 2022.

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; 30:841-847.

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.

Filuta, A; Amezcua, PK; Chang, W; Biagini, J; Kroner, J; He, H; Grashel, B; Almasri, C; Martin, L; Palumbo, JS; et al. LB1033 Thrombin contributes to atopic dermatitis pathogenesis and staphylococcus aureus skin colonization in children. Journal of Investigative Dermatology. 2022; 142.

Fu, H; Zheng, H; Muglia, L; Wang, L; Liu, Y. GTAGMe-seq: joint profiling of genetic variants, DNA methylation, GpC methyltransferase footprints, and 3D genome in the same DNA molecules. 2022.

Galarreta, CI; Kennedy, C; Blair, DR; Slavotinek, A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. American Journal of Medical Genetics, Part A. 2022; 188:2724-2731.

Gangaram, B; Devine, WP; Slavotinek, A. Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review. European Journal of Medical Genetics. 2022; 65.

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.

Haley, JE; Woodly, SA; Daniels, SR; Falkner, B; Ferguson, MA; Flynn, JT; Hanevold, CD; Hooper, SR; Ingelfinger, JR; Khoury, PR; et al. Association of Blood Pressure-Related Increase in Vascular Stiffness on Other Measures of Target Organ Damage in Youth. Hypertension. 2022; 79:2042-2050.

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; 31:965-975.

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; 205:1449-1460.

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.

Heuerman, AC; Bessett, D; Matheny Antommaria, AH; Tolusso, LK; Smith, N; Norris, AH; McGowan, ML. Experiences of reproductive genetic counselors with abortion regulations in Ohio. Journal of Genetic Counseling. 2022; 31:641-652.

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.

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, 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.

Kortbawi, H; Ames, E; Pritchard, A; Devine, P; van Ziffle, J; Slavotinek, A. Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American Journal of Medical Genetics, Part A. 2022; 188:2479-2484.

Kotsopoulos, J; Lubinski, J; Gronwald, J; Menkiszak, J; McCuaig, J; Metcalfe, K; Foulkes, WD; Neuhausen, SL; Sun, S; Karlan, BY; et al. Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal. Cancer Epidemiology Biomarkers and Prevention. 2022; 31:1351-1358.

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.

Lillie, N; Prows, CA; McGowan, ML; Blumling, AA; Myers, MF. Experiences of adolescents and their parents after receiving adolescents' genomic screening results. Journal of Genetic Counseling. 2022; 31:608-619.

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.

Minatogawa, M; Unzaki, A; Morisaki, H; Syx, D; Sonoda, T; Janecke, AR; Slavotinek, A; Voermans, NC; Lacassie, Y; Mendoza-Londono, R; et al. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of Medical Genetics. 2022; 59:865-877.

Modlin, EW; Slavotinek, AM; Darling, TN; Lipkowitz, S; Barr, FG; Munster, PN; Biesecker, LG; Ours, CA. Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. American Journal of Medical Genetics, Part A. 2022; 188:2766-2771.

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.

Norstad, M; Outram, S; Brown, JE H; Zamora, AN; Koenig, BA; Risch, N; Norton, ME; Slavotinek, A; Ackerman, SL. The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research. Genetics in Medicine. 2022; 24:410-418.

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.

Pandey, MK. The Role of Alpha-Synuclein Autoantibodies in the Induction of Brain Inflammation and Neurodegeneration in Aged Humans. Frontiers in Aging Neuroscience. 2022; 14.

Pandey, MK. Pre-existing humoral immune comebacks control the development of the severe form of coronavirus disease 2019 in Gaucher patients. 2022; 2.

Paudel, S; Gjorcheska, S; Bump, P; Barske, L. Patterning of cartilaginous condensations in the developing facial skeleton. Developmental Biology. 2022; 486:44-55.

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. 2022.

Penon-Portmann, M; Carlston, CM; Martin, PM; Slavotinek, A. Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. Molecular Syndromology. 2022; 13:337-342.

Perl, E; Ravisankar, P; Beerens, ME; Mulahasanovic, L; Smallwood, K; Sasso, MB; Wenzel, C; Ryan, TD; Komár, M; Bove, KE; et al. Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development. 2022; 3.

Phillips, KA; Trosman, JR; Douglas, MP; Gelb, BD; Ferket, BS; Hindorff, LA; Slavotinek, AM; Berg, JS; Russell, HV; Devine, B; et al. US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER). Genetics in Medicine. 2022; 24:238-244.

Powell, AW; Wittekind, SG; Mays, WA; Lang, SM; Knilans, TK; Prada, CE; Hopkin, RJ; Chin, C. Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease. Texas Heart Institute Journal. 2022; 49.

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.

Rego, S; Hoban, H; Outram, S; Zamora, AN; Chen, F; Sahin-Hodoglugil, N; Anguiano, B; Norstad, M; Yip, T; Lianoglou, B; et al. Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach. Genetics in Medicine. 2022; 24:1206-1216.

Riedhammer, KM; Burgemeister, AL; Cantagrel, V; Amiel, J; Siquier-Pernet, K; Boddaert, N; Hertecant, J; Kannouche, PL; Pouvelle, C; Htun, S; et al. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics. 2022; 31:3083-3094.

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.

Savarirayan, R; Irving, M; Harmatz, P; Delgado, B; Wilcox, WR; Philips, J; Owen, N; Bacino, CA; Tofts, L; Charrow, J; et al. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genetics in Medicine. 2022.

Setty, BA; Wusik, K; Hammill, AM. How we approach genetics in the diagnosis and management of vascular anomalies. Pediatric Blood and Cancer. 2022; 69 Suppl 3.

Shen, J; Shillington, A; Espay, AJ; Hill, EJ. Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant. Neurology: Genetics. 2022; 8.

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.

Shillington, A; Lamy, M; Dominick, KC; Sorter, M; Erickson, CA; Hopkin, R. A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders. Frontiers in Genetics. 2022; 13.

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.

Simpson, CE; Griffiths, M; Yang, J; Nies, MK; Vaidya, D; Brandal, S; Martin, LJ; Pauciulo, MW; Lutz, KA; Coleman, AW; et al. COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study. ERJ Open Research. 2022; 8.

Slavotinek, A; Lefebvre, M; Brehin, AC; Thauvin, C; Patrier, S; Sparks, TN; Norton, M; Yu, J; Huang, E. Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A. European Journal of Medical Genetics. 2022; 65.

Swanson, K; Sparks, TN; Lianoglou, BR; Chen, F; Downum, S; Patel, S; Rego, S; Yip, T; Van Ziffle, J; Koenig, BA; et al. Preference for secondary findings in prenatal and pediatric exome sequencing. Prenatal Diagnosis. 2022; 42:753-761.

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; Chen, J; Shikany, A; White, PS; Prada, CE; Gelb, BD; Cnota, JF. Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation: Genomic and Precision Medicine. 2022; 15.

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.

Yang, Z; Shikany, A; Ni, Y; Zhang, G; Weaver, KN; Chen, J. Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients. Genetics in Medicine. 2022.

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.

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; 176:759-767.

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; 24:1503-1511.

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.

Zoubovsky, SP; Williams, MT; Hoseus, S; Tumukuntala, S; Riesenberg, A; Schulkin, J; Vorhees, CV; Campbell, K; Lim, H; Muglia, LJ. Neurobehavioral abnormalities following prenatal psychosocial stress are differentially modulated by maternal environment. Translational Psychiatry. 2022; 12.

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.