Publications

Abascal, F; Acosta, R; Addleman, NJ; Adrian, J; Afzal, V; Aken, B; Akiyama, JA; Jammal, OA; Amrhein, H; Anderson, SM; et al. Expanded encyclopaedias of DNA elements in the human and mouse genomes. Nature. 2020; 583:699-710.

Abdelhamed, Z. First person – Zakia Abdelhamed. DMM Disease Models and Mechanisms. 2020; 13:dmm047852-dmm047852.

Abdelhamed, Z; Lukacs, M; Cindric, S; Omran, H; Stottmann, RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. DMM Disease Models and Mechanisms. 2020; 13:dmm045344-dmm045344.

Abell, K; Chadwell, SE; Burrow, TA; Becker, AP P; Bailey, L; Steele, P; Zhang, X; Islas-Ohlmayer, M; Bittencourt, R; Schwartz, IV D; et al. Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:1052-1059.

Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al. Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Birth Defects Research. 2020; 112:1733-1737.

Aceves, S; Collins, MH; Rothenberg, ME; Furuta, GT; Gonsalves, N; Abonia, JP; Almonte, S; Andrews, R; Arrington, A; Arva, N; et al. Advancing patient care through the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). Journal of Allergy and Clinical Immunology. 2020; 145:28-37.

Akkari, YM N; Bruyere, H; Hagelstrom, RT; Kanagal-Shamanna, R; Liu, J; Luo, M; Mikhail, FM; Pitel, BA; Raca, G; Shago, M; et al. Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia. Cancer Genetics. 2020; 243:52-72.

Alexandrou, E; Cabrera-Salcedo, C; Labilloy, G; Tyzinski, L; Smolarek, TA; Andrew, M; Huang, Y; Backeljauw, P; Dauber, A. (2020) Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome. Elsevier BV. 216:227-231.

Amir, F; Atzinger, C; Massey, K; Greinwald, J; Hunter, LL; Ulm, E; Kettler, M. The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. Journal of Child Neurology. 2020; 35:283-290.

Araneta, MR G; Baer, RJ; Muglia, LJ; Ryckman, KK; Ryu, J; Sidelinger, DE; Jeliffe-Powlowski, LL; Chambers, CD. Health Advantages and Disparities in Preterm Birth Among Immigrants Despite Disparate Sociodemographic, Behavioral, and Maternal Risk Factors in San Diego, California. Maternal and Child Health Journal. 2020; 24:153-164.

Arjunan, A; Bellerose, H; Torres, R; Ben-Shachar, R; Hoffman, JD; Angle, B; Slotnick, RN; Simpson, BN; Lewis, AM; Magoulas, PL; et al. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. Prenatal Diagnosis. 2020; 40:1246-1257.

Aungst, H; Rossi, R; Brockway, H; Mesiano, S; Muglia, LJ. Can Evolution Inform Insights into Normal and Adverse Pregnancy Outcomes and Ultimately Improve Maternal and Fetal Care?. INTEGRATING EVOLUTIONARY BIOLOGY INTO MEDICAL EDUCATION: FOR MATERNAL AND CHILD HEALTHCARE STUDENTS, CLINICIANS, AND SCIENTISTS. : Oxford University Press; Oxford University Press; 2020.

Barman, M; Brantsaerer, AL; Nilsson, S; Haugen, M; Lundh, T; Jr, CG F; Zhang, G; Muglia, LJ; Meltzer, HM; Jacobsson, B; et al. Maternal dietary selenium intake is associated with increased gestational length and decreased risk of preterm delivery. The British Journal of Nutrition: an international journal of nutritional science. 2020; 123:209-219.

Barnett, C; Myers, MF; Spaeth, CG; Pilipenko, V; Bucheit, LA. The gendered pay gap in genetic counseling. Journal of Genetic Counseling. 2020; 29:182-191.

Barske, L; Fabian, P; Hirschberger, C; Jandzik, D; Square, T; Xu, P; Nelson, N; Yu, HV; Medeiros, DM; Gillis, JA; et al. Evolution of vertebrate gill covers via shifts in an ancient Pou3f3 enhancer. Proceedings of the National Academy of Sciences of USA. 2020; 117:24876-24884.

Chen, J; Bacelis, J; Sole-Navais, P; Srivastava, A; Juodakis, J; Rouse, A; Hallman, M; Teramo, K; Melbye, M; Feenstra, B; et al. Dissecting maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes, and adult phenotypes: A mendelian-randomization and haplotype-based genetic score analysis in 10,734 mother–infant pairs. PLoS Medicine. 2020; 17:e1003305-e1003305.

Chen, JY; Griffiths, M; Yang, J; Nies, MK; Damico, RL; Simpson, CE; Vaidya, RD; Brandal, S; Ivy, DD; Austin, ED; et al. Elevated Interleukin-6 Levels Predict Clinical Worsening in Pediatric Pulmonary Arterial Hypertension. The Journal of Pediatrics. 2020; 223:164-169.e1.

Chidambaran, V; Ashton, M; Martin, LJ; Jegga, AG. Systems biology-based approaches to summarize and identify novel genes and pathways associated with acute and chronic postsurgical pain. Journal of Clinical Anesthesia. 2020; 62:109738-109738.

Chung, H; Wangler, MF; Marcogliese, PC; Jo, J; Ravenscroft, TA; Zuo, Z; Duraine, L; Sadeghzadeh, S; Li-Kroeger, D; Schmidt, RE; et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020; 106:589-606.e6.

Collins, MH; Martin, LJ; Wen, T; Abonia, JP; Putnam, PE; Mukkada, VA; Rothenberg, ME. Eosinophilic Esophagitis Histology Remission Score: Significant Relations to Measures of Disease Activity and Symptoms. Journal of Pediatric Gastroenterology and Nutrition. 2020; 70:598-603.

Daich Varela, M; Moya, R; Schlottmann, PG; Hufnagel, RB; Arberas, C; Fernandez, FM; Eugenia Inga, M; Lores, J; Pachajoa, H; Prada, CE; et al. Ophthalmic genetics in South America. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:753-761.

Davis, HW; Vallabhapurapu, SD; Chu, Z; Wyder, MA; Greis, KD; Fannin, V; Sun, Y; Desai, PB; Pak, KY; Gray, BD; et al. Biotherapy of Brain Tumors with Phosphatidylserine-Targeted Radioiodinated SapC-DOPS Nanovesicles. Cells. 2020; 9:1960-1960.

Di Martino, S; Tardia, P; Cilibrasi, V; Caputo, S; Mazzonna, M; Russo, D; Penna, I; Realini, N; Margaroli, N; Migliore, M; et al. Lead Optimization of Benzoxazolone Carboxamides as Orally Bioavailable and CNS Penetrant Acid Ceramidase Inhibitors. Journal of Medicinal Chemistry. 2020; 63:3634-3664.

DiStasio, A; Paulding, D; Chaturvedi, P; Stottmann, RW. Nubp2 is required for cranial neural crest survival in the mouse. Developmental Biology. 2020; 458:189-199.

Dunn, JL M; Shoda, T; Caldwell, JM; Wen, T; Aceves, SS; Collins, MH; Dellon, ES; Falk, GW; Leung, J; Martin, LJ; et al. Esophageal type 2 cytokine expression heterogeneity in eosinophilic esophagitis in a multisite cohort. Journal of Allergy and Clinical Immunology. 2020; 145:1629-1640.e4.

Euteneuer, JC; Mizuno, T; Fukuda, T; Zhao, J; Setchell, KD R; Muglia, LJ; Vinks, AA. Model-Informed Bayesian Estimation Improves the Prediction of Morphine Exposure in Neonates and Infants. Therapeutic Drug Monitoring. 2020; 42:778-786.

Germain, DP; Oliveira, JP; Bichet, DG; Yoo, H; Hopkin, RJ; Lemay, R; Politei, J; Wanner, C; Wilcox, WR; Warnock, DG. Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. Journal of Medical Genetics. 2020; 57:542-551.

Gilligan, LA; Calvo-Garcia, MA; Weaver, KN; Kline-Fath, BM. Fetal magnetic resonance imaging of skeletal dysplasias. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI. 2020; 50:224-233.

Gordon, AS; Zouk, H; Venner, E; Eng, CM; Funke, BH; Amendola, LM; Carrell, DS; Chisholm, RL; Chung, WK; Denny, JC; et al. Frequency of genomic secondary findings among 21,915 eMERGE network participants. Genetics in Medicine. 2020; 22:1470-1477.

Griffiths, M; Yang, J; Nies, M; Vaidya, D; Brandal, S; Williams, M; Matsui, EC; Grant, T; Damico, R; Ivy, D; et al. Pediatric pulmonary hypertension: insulin-like growth factor-binding protein 2 is a novel marker associated with disease severity and survival. Pediatric Research. 2020; 88:850-856.

Gripp, KW; Schill, L; Schoyer, L; Stronach, B; Bennett, AM; Blaser, S; Brown, A; Burdine, R; Burkitt-Wright, E; Castel, P; et al. The sixth international RASopathies symposium: Precision medicine—From promise to practice. American Journal of Medical Genetics, Part A. 2020; 182:597-606.

Gupta, A; Dsouza, NR; Zarate, YA; Lombardo, R; Hopkin, R; Linehan, AR; Simpson, J; McCarrier, J; Agre, KE; Gavrilova, RH; et al. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. European Journal of Medical Genetics. 2020; 63:103817-103817.

Halverson, CM E; Bland, ST; Leppig, KA; Marasa, M; Myers, M; Rasouly, HM; Wynn, J; Clayton, EW. Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience. Genetics in Medicine. 2020; 22:1667-1672.

Henderson, A; Magier, A; Schwartz, JT; Martin, LJ; Collins, MH; Putnam, PE; Mukkada, VA; Abonia, JP; Rothenberg, ME; Fulkerson, PC. Monitoring Eosinophilic Esophagitis Disease Activity With Blood Eosinophil Progenitor Levels. Journal of Pediatric Gastroenterology and Nutrition. 2020; 70:482-488.

Hoell, C; Wynn, J; Rasmussen, LV; Marsolo, K; Aufox, SA; Chung, WK; Connolly, JJ; Freimuth, RR; Kochan, D; Hakonarson, H; et al. Participant choices for return of genomic results in the eMERGE Network. Genetics in Medicine. 2020; 22:1821-1829.

Hopkin, RJ; Feldt-Rasmussen, U; Germain, DP; Jovanovic, A; Martins, AM; Nicholls, K; Ortiz, A; Politei, J; Ponce, E; Varas, C; et al. Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. Molecular Genetics and Metabolism Reports. 2020; 25:100670-100670.

Huang, T; Li, P. Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2020; 37:219-225.

Husami, A; Slone, J; Brown, J; Bromwell, M; Valencia, CA; Huang, T. Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations. Journal of Genetics and Genomics. 2020; 47:167-169.

Jain, VG; Kong, F; Kallapur, SG; Presicce, P; Senthamaraikannnan, P; Cappelletti, M; Chougnet, CA; Bhattacharyya, S; Pasare, C; Muglia, LJ. IRAK1 is a critical mediator of inflammation-induced preterm birth. Journal of immunology (Baltimore, Md. : 1950). 2020; 204:2651-2660.

Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; et al. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological Psychiatry. 2020; 87:100-112.

Kandil, AI; Pettit, CS; Berry, LN; Busso, VO; Careskey, M; Chesnut, E; Buck, DW; Leslie, ND; Tamai, J; McAuliffe, JJ; et al. Tertiary Pediatric Academic Institution's Experience with Intraoperative Neuromonitoring for Nonspinal Surgery in Children with Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm. Anesthesia and Analgesia. 2020; 130:1678-1684.

Karnes, JH; Wiener, H; Wiener, HW; Schwantes-An, T; Natarajan, B; Sweatt, AJ; Chaturvedi, A; Arora, AH; Arora, A; Batai, K; et al. Genetic Admixture and Survival in Diverse Populations with Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2020; 201:1407-1415.

Keller, H; Wusik, K; He, H; Yager, G; Atzinger, C. Further validation of the Genetic Counseling Self-Efficacy Scale (GCSES): Its relationship with personality characteristics. Journal of Genetic Counseling. 2020; 29:748-758.

Kim, A; Abell, K; Johnson, J; Cizek, S; Breech, L; Ernst, MM; Hopkin, RJ; Kennedy, K; Stanek, J; Strine, AC; et al. XY gonadal dysgenesis in a phenotypic female identified by direct-to-consumer genetic testing. Pediatrics. 2020; 146:e20193302-e20193302.

Klesse, LJ; Jordan, JT; Radtke, HB; Rosser, T; Schorry, E; Ullrich, N; Viskochil, D; Knight, P; Plotkin, SR; Yohay, K. The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities. The Oncologist. 2020; 25:e1109-e1116.

Koczkowska, M; Callens, T; Chen, Y; Gomes, A; Hicks, AD; Sharp, A; Johns, E; Uhas, KA; Armstrong, L; Bosanko, KA; et al. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Human Mutation. 2020; 41:299-315.

Kottyan, LC; Parameswaran, S; Weirauch, MT; Rothenberg, ME; Martin, LJ. The genetic etiology of eosinophilic esophagitis. Journal of Allergy and Clinical Immunology. 2020; 145:9-15.

Kroner, JW; Kyzy, AB; Burkle, JW; Martin, LJ; LeMasters, GK; Bernstein, DI; Lockey, JE; Ryan, P; Hershey, GK K; Myers, JM B. Atopic dermatitis independently increases sensitization above parental atopy: The MPAACH study. Journal of Allergy and Clinical Immunology. 2020; 145:1464-1466.

LaBella, AL; Abraham, A; Pichkar, Y; Fong, SL; Zhang, G; Muglia, LJ; Abbot, P; Rokas, A; Capra, JA. Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci. Nature Communications. 2020; 11.

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. Clinical Kidney Journal. 2020; 13:913-925.

Lavery, WJ; Barski, A; Wiley, S; Schorry, EK; Lindsley, AW. KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: An emerging class of congenital regulopathies. Clinical Epigenetics. 2020; 12.

Lazow, MA; Hoffman, L; Schafer, A; Osorio, DS; Boué, DR; Rush, S; Wright, E; Lane, A; DeWire-Schottmiller, MD; Smolarek, T; et al. Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas. Acta Neuropathologica Communications. 2020; 8.

Li, C; Dong, L; Su, R; Bi, Y; Qing, Y; Deng, X; Zhou, Y; Hu, C; Yu, M; Jiang, X; et al. Homoharringtonine exhibits potent anti-tumor effect and modulates DNA epigenome in acute myeloid leukemia by targeting SP1/TET1/5hmC. Haematologica: the hematology journal. 2020; 105:148-160.

Li, H; Slone, J; Huang, T. The role of mitochondrial-related nuclear genes in age-related common disease. Mitochondrion. 2020; 53:38-47.

Linthorst, J; Meert, W; Hestand, MS; Korlach, J; Vermeesch, JR; Reinders, MJ T; Holstege, H. Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain. Translational Psychiatry. 2020; 10.

Lores, J; Prada, CE; Ramírez-Montaño, D; Nastasi-Catanese, JA; Pachajoa, H. Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:1042-1051.

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. 2020; 29:1205-1217.

Lynch, JA; Sharp, RR; Aufox, SA; Bland, ST; Blout, C; Bowen, DJ; Buchanan, AH; Halverson, C; Harr, M; Hebbring, SJ; et al. Understanding the return of genomic sequencing results process: Content review of participant summary letters in the eMERGE research network. Journal of Personalized Medicine. 2020; 10:38-38.

Mandl, KD; Glauser, T; Krantz, ID; Avillach, P; Bartels, A; Beggs, AH; Biswas, S; Bourgeois, FT; Corsmo, J; Dauber, A; et al. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genetics in Medicine. 2020; 22:371-380.

McDaniel, CT; Panmanee, W; Winsor, GL; Gill, E; Bertelli, C; Schurr, MJ; Dongare, P; Paul, AT; Ko, SB; Lau, GW; et al. AB569, a nontoxic chemical tandem that kills major human pathogenic bacteria. Proceedings of the National Academy of Sciences of USA. 2020; 117:4921-4930.

McGowan, R; Pilipenko, V; Smolarek, TA; West, E; Tolusso, LK. Aneuploid embryo transfer: clinical policies and provider opinions at United States fertility clinics. Fertility and Sterility. 2020; 114:110-117.

Mena, R; Mendoza, E; Gomez Peña, M; Valencia, CA; Ullah, E; Hufnagel, RB; Prada, CE. An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:996-1008.

Mistry, P; Balwani, M; Barbouth, D; Burrow, TA; Ginns, EI; Goker-Alpan, O; Grabowski, GA; Kartha, RV; Kishnani, PS; Lau, H; et al. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular Genetics and Metabolism. 2020; 130:164-169.

Modzelewska, D; Sole-Navais, P; Sandstrom, A; Zhang, G; Muglia, LJ; Flatley, C; Nilsson, S; Jacobsson, B. Changes in data management contribute to temporal variation in gestational duration distribution in the Swedish Medical Birth Registry. PLoS ONE. 2020; 15:e0241911-e0241911.

Modzelewska, D; Sole-Navais, P; Zhang, G; Muglia, LJ; Nilsson, S; Jacobsson, B. Importance of the environment for gestational duration variability and correlation between relatives - results from the Medical Swedish Birth Registry, 1973-2012. PLoS ONE. 2020; 15:e0236494-e0236494.

Monteil, DC; Shikany, A; Aljeaid, D; Parrott, A; Tretter, JT; James, J; Martin, LJ; Weaver, KN. Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome. The Journal of Pediatrics. 2020; 221:188-195.e1.

Morris, CA; Braddock, SR; Chen, E; Trotter, TL; Berry, SA; Burke, LW; Geleske, TA; Hamid, R; Hopkin, RJ; Introne, WJ; et al. Health care supervision for children with Williams syndrome. Pediatrics. 2020; 145:e20193761-e20193761.

Motta, M; Pannone, L; Pantaleoni, F; Bocchinfuso, G; Radio, FC; Cecchetti, S; Ciolfi, A; Di Rocco, M; Elting, MW; Brilstra, EH; et al. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. The American Journal of Human Genetics. 2020; 107:499-513.

Myers, JM B; Sherenian, MG; Kyzy, AB; Alarcon, R; An, A; Flege, Z; Morgan, D; Gonzalez, T; Stevens, ML; He, H; et al. Events in Normal Skin Promote Early-Life Atopic Dermatitis—The MPAACH Cohort. Journal of Allergy and Clinical Immunology-In Practice. 2020; 8:2285-2293.e6.

Myers, MF; Martin, LJ; Prows, CA. Adolescents' and Parents' Genomic Testing Decisions: Associations With Age, Race, and Sex. Journal of Adolescent Health. 2020; 66:288-295.

Nayak, G; Zhang, KX; Vemaraju, S; Odaka, Y; Buhr, ED; Holt-Jones, A; Kernodle, S; Smith, AN; Upton, BA; D'Souza, S; et al. Adaptive Thermogenesis in Mice Is Enhanced by Opsin 3-Dependent Adipocyte Light Sensing. Cell Reports. 2020; 30:672-686.e8.

Nemeth, BC; Orekhova, A; Zhang, W; Nortman, SA; Thompson, T; Hegyi, P; Abu-El-Haija, M. Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance. Gut. 2020; 69:790-792.

Ober, C; McKennan, CG; Magnaye, KM; Altman, MC; Washington, C; Stanhope, C; Naughton, KA; Rosasco, MG; Bacharier, LB; Billheimer, D; et al. Expression quantitative trait locus fine mapping of the 17q12–21 asthma locus in African American children: a genetic association and gene expression study. The Lancet Respiratory Medicine. 2020; 8:482-492.

Oriaku, I; LeSieur, MN; Nichols, WC; Barrios, R; Elliott, CG; Frost, A. A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. Pulmonary Circulation. 2020; 10:2045894020931315-204589402093131.

Ottenhoff, MJ; Rietman, AB; Mous, SE; Plasschaert, E; Gawehns, D; Brems, H; Oostenbrink, R; van Minkelen, R; Nellist, M; Schorry, E; et al. Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Genetics in Medicine. 2020; 22:889-897.

Parrott, A; Lombardo, R; Brown, N; Tretter, JT; Riley, L; Weaver, KN. Cantu syndrome: A longitudinal review of vascular findings in three individuals. American Journal of Medical Genetics, Part A. 2020; 182:1243-1248.

Pavlicev, M; Romero, R; Mitteroecker, P. Evolution of the human pelvis and obstructed labor: new explanations of an old obstetrical dilemma. American Journal of Obstetrics and Gynecology. 2020; 222:3-16.

Potus, F; Pauciulo, MW; Cook, EK; Zhu, N; Hsieh, A; Welch, CL; Shen, Y; Tian, L; Lima, P; Mewburn, J; et al. Novel mutations and decreased expression of the epigenetic regulator TET2 in pulmonary arterial hypertension. Circulation. 2020; 141:1986-2000.

Raghuram Pillai, P; Prows, CA; Martin, LJ; Myers, MF. Decisional conflict among adolescents and parents making decisions about genomic sequencing results. Clinical Genetics: an international journal of genetics and molecular medicine. 2020; 97:312-320.

Rhodes, CJ; Otero-Nunez, P; Wharton, J; Swietlik, EM; Kariotis, S; Harbaum, L; Dunning, MJ; Elinoff, JM; Errington, N; Thompson, AA R; et al. Whole-blood RNA profiles associated with pulmonary arterial hypertension and clinical outcome. American Journal of Respiratory and Critical Care Medicine. 2020; 202:586-594.

Robinson, JR; Carroll, RJ; Bastarache, L; Chen, Q; Mou, Z; Wei, W; Connolly, JJ; Mentch, F; Sleiman, P; Crane, PK; et al. Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization. World Journal of Surgery. 2020; 44:84-94.

Rokas, A; Mesiano, S; Tamam, O; Labella, A; Zhang, G; Muglia, L. Developing a theoretical evolutionary framework to solve the mystery of parturition initiation. eLife. 2020; 9:1-22.

Sadovsky, Y; Mesiano, S; Burton, GJ; Lampl, M; Murray, JC; Freathy, RM; Mahadevan-Jansen, A; Moffett, A; Price, ND; Wise, PH; et al. Advancing human health in the decade ahead: pregnancy as a key window for discovery. American Journal of Obstetrics and Gynecology. 2020; 223:312-321.

Sakabe, NJ; Aneas, I; Knoblauch, N; Sobreira, DR; Clark, N; Paz, C; Horth, C; Ziffra, R; Kaur, H; Liu, X; et al. Transcriptome and regulatory maps of decidua-derived stromal cells inform gene discovery in preterm birth. Science Advances. 2020; 6:eabc8696-eabc8696.

Schauberger, E; Myers, JM B; He, H; Martin, LJ; Arshad, SH; Kurukulaaratchy, R; Hershey, GK K. Use of the Pediatric Asthma Risk Score to predict allergic and nonallergic asthma. Annals of Allergy, Asthma, and Immunology. 2020; 124:629-631.e2.

Schiffer, V; Santiago-Mujika, E; Flunkert, S; Schmidt, S; Farcher, M; Loeffler, T; Schilcher, I; Posch, M; Neddens, J; Sun, Y; et al. Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease. PLoS ONE. 2020; 15:e0227077-e0227077.

Schuler, CL; Myers, JM B; Kercsmar, CM; Pilipenko, VV; Kroner, JW; Simmons, JM; Austin, SR; Gunkelman, SM; Ross, KR; McCoy, KS; et al. Weighing in on asthma: Insights on BMI, magnesium, and hospitalizations from the Ohio Pediatric Asthma Repository. Journal of Asthma (Informa). 2020; 57:1280-1287.

Shalhub, S; Byers, PH; Hicks, KL; Coleman, DM; Davis, FM; De Caridi, G; Weaver, KN; Miller, EM; Schermerhorn, ML; Shean, K; et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Journal of Vascular Surgery. 2020; 71:149-157.

Shen, C; Sheng, Y; Zhu, AC; Robinson, S; Jiang, X; Dong, L; Chen, H; Su, R; Yin, Z; Li, W; et al. RNA Demethylase ALKBH5 Selectively Promotes Tumorigenesis and Cancer Stem Cell Self-Renewal in Acute Myeloid Leukemia. Cell Stem Cell. 2020; 27:64-80.e9.

Shieh, C; Jones, N; Vanle, B; Au, M; Huang, AY; Silva, AP G; Lee, H; Douine, ED; Otero, MG; Choi, A; et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genetics in Medicine. 2020; 22:878-888.

Shikany, AR; Baker, L; Stabley, DL; Robbins, K; Doyle, D; Gripp, KW; Weaver, KN. Medically actionable comorbidities in adults with Costello syndrome. American Journal of Medical Genetics, Part A. 2020; 182:130-136.

Shillington, A; Pedapati, E; Hopkin, R; Suhrie, K. Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome. Molecular Genetics and Genomic Medicine. 2020; 8.

Simpson, CE; Chen, JY; Damico, RL; Hassoun, PM; Martin, LJ; Yang, J; Nies, M; Griffiths, M; Vaidya, RD; Brandal, S; et al. Cellular sources of IL-6 and associations with clinical phenotypes and outcomes in PAH. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2020; 55:1901761-1901761.

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