Human Genetics

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Schauberger, E; Biagini Myers, JM; He, H; Martin, LJ; Arshad, SH; Kurukulaaratchy, R; Khurana Hershey, GK. 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.

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.

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.

Simpson, CE; Damico, RL; Hassoun, PM; Martin, LJ; Yang, J; Nies, MK; Vaidya, RD; Brandal, S; Pauciulo, MW; Austin, ED; et al. Noninvasive Prognostic Biomarkers for Left-Sided Heart Failure as Predictors of Survival in Pulmonary Arterial Hypertension. Chest. 2020; 157:1606-1616.

Slone, JD; Yang, L; Peng, Y; Queme, LF; Harris, B; Rizzo, SJ S; Green, T; Ryan, JL; Jankowski, MP; Reinholdt, LG; et al. Integrated analysis of the molecular pathogenesis of FDXR-associated disease. Cell Death and Disease. 2020; 11.

Sun, Y; Liou, B; Chu, Z; Fannin, V; Blackwood, R; Peng, Y; Grabowski, GA; Davis, HW; Qi, X. Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease. EBioMedicine. 2020; 55:102735-102735.

Sund, KL; Khattar, D; Boomer, T; Caldwell, S; Dyer, L; Hopkin, RJ; Smolarek, TA. Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:294-301.

Tran, AH; Flynn, JT; Becker, RC; Daniels, SR; Falkner, BE; Ferguson, M; Hanevold, CD; Hooper, SR; Ingelfinger, JR; Lande, MB; et al. Subclinical Systolic and Diastolic Dysfunction Is Evident in Youth with Elevated Blood Pressure. Hypertension. 2020; 75:1551-1556.

Troy, TF; Poweleit, EA; Strawn, JR; Martin, LJ; Ramsey, LB. The Influence of Pharmacodynamic Genes on Fluoxetine Response in Pediatric Anxiety and Depressive Disorders. Journal of Child and Adolescent Psychopharmacology. 2020; 30:276-277.

Ulrich, A; Wharton, J; Thayer, TE; Swietlik, EM; Assad, TR; Desai, AA; Graf, S; Harbaum, L; Humbert, M; Morrell, NW; et al. Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2020; 55:1901486-1901486.

Unolt, M; Kammoun, M; Nowakowska, B; Graham, GE; Crowley, TB; Hestand, MS; Demaerel, W; Geremek, M; Emanuel, BS; Zackai, EH; et al. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genetics in Medicine. 2020; 22:326-335.

Vanoni, S; Zeng, C; Marella, S; Uddin, J; Wu, D; Arora, K; Ptaschinski, C; Que, J; Noah, T; Waggoner, L; et al. Identification of anoctamin 1 (ANO1) as a key driver of esophageal epithelial proliferation in eosinophilic esophagitis. Journal of Allergy and Clinical Immunology. 2020; 145:239-254.e2.

Wiesner, GL; Rahm, AK; Appelbaum, P; Aufox, S; Bland, ST; Blout, CL; Christensen, KD; Chung, WK; Clayton, EW; Green, RC; et al. Returning results in the genomic era: Initial experiences of the emerge network. Journal of Personalized Medicine. 2020; 10:30-30.

Woodle, ES; Tremblay, S; Brailey, P; Girnita, A; Alloway, RR; Aronow, B; Dasgupta, N; Ebstein, F; Kloetzel, P; Lee, MJ; et al. Proteasomal adaptations underlying carfilzomib-resistance in human bone marrow plasma cells. American Journal of Transplantation. 2020; 20:399-410.

Yang, L; Slone, J; Li, Z; Lou, X; Hu, Y; Queme, LF; Jankowski, MP; Huang, T. Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46^-/- mice. Human Molecular Genetics. 2020; 29:649-661.

Yu, Y; Choi, K; Wu, J; Andreassen, PR; Dexheimer, PJ; Keddache, M; Brems, H; Spinner, RJ; Cancelas, JA; Martin, LJ; et al. NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation. Acta Neuropathologica. 2020; 139:157-174.

Zhang, X; Pavlicev, M; Jones, H; Muglia, L. Eutherian-Specific Gene TRIML2 Attenuates Inflammation in the Evolution of Placentation. Molecular Biology and Evolution. 2020; 37:507-523.

Zhao, Y; Diacou, A; Johnston, HR; Musfee, FI; McDonald-McGinn, DM; McGinn, D; Crowley, TB; Repetto, GM; Swillen, A; Breckpot, J; et al. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. The American Journal of Human Genetics. 2020; 106:26-40.