Publications

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.

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.

Alexandrou, EG; Corathers, SD; Lahoti, A; Redel, J; Tellez, S; Jones, NH Y; Kim, A. Treatment-induced neuropathy of diabetes in youth: Case series of a heterogeneous and challenging complication. Journal of the Endocrine Society. 2020; 4.

Alonso, GT; Corathers, S; Shah, A; Clements, M; Kamboj, M; Sonabend, R; DeSalvo, D; Mehta, S; Cabrera, A; Rioles, N; et al. Establishment of the T1D Exchange Quality Improvement Collaborative (T1DX-QI). Clinical diabetes : a publication of the American Diabetes Association. 2020; 38:141-151.

Arora, S; Khoury, J; Trout, AT; Chuang, J. Improving Malignancy Prediction in AUS/FLUS Pediatric Thyroid Nodules with the Aid of Ultrasound. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2020; 93:239-244.

Atreya, MR; Whitacre, BE; Cvijanovich, NZ; Bigham, MT; Thomas, NJ; Schwarz, AJ; Weiss, SL; Fitzgerald, JC; Allen, GL; Lutfi, R; et al. Proprotein convertase subtilisin/kexin type 9 loss-of-function is detrimental to the juvenile host with septic shock. Critical Care Medicine. 2020; 48:1513-1520.

Backeljauw, P. Therapy with recombinant human IGF-1 for children with primary insulin-like growth factor-I deficiency. Growth Hormone and IGF Research. 2020; 51:22-26.

Backeljauw, P; Corathers, S. The turner syndrome resource center: An interdisciplinary approach to the care of girls and women with turner syndrome. Turner Syndrome: Pathophysiology, Diagnosis and Treatment. : Springer International Publishing; Springer International Publishing; 2020.

Balamurugan, AN; Elder, DA; Abu-El-Haija, M; Nathan, JD. Islet cell transplantation in children. Seminars in Pediatric Surgery. 2020; 29:150925-150925.

Bjornstad, P; Hughan, K; Kelsey, MM; Shah, AS; Lynch, J; Nehus, E; Mitsnefes, M; Jenkins, T; Xu, P; Xie, C; et al. Effect of surgical versus medical therapy on diabetic kidney disease over 5 years in severely obese adolescents with type 2 diabetes. Diabetes Care. 2020; 43:187-195.

Cabrera-Salcedo, C; Hawkes, CP; Tyzinski, L; Andrew, M; Labilloy, G; Campos, D; Feld, A; Deodati, A; Hwa, V; Hirschhorn, JN; et al. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2020; 92:186-195.

Chernock, RD; Rivera, B; Borrelli, N; Hill, DA; Fahiminiya, S; Shah, T; Chong, A; Aqil, B; Mehrad, M; Giordano, TJ; et al. Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. Modern Pathology. 2020; 33:1264-1274.

Corathers, SD; DeSalvo, DJ. Therapeutic Inertia in Pediatric Diabetes: Challenges to and Strategies for Overcoming Acceptance of the Status Quo. Diabetes spectrum : a publication of the American Diabetes Association. 2020; 33:22-30.

Corathers, SD; Yi-Frazier, JP; Kichler, JC; Gilliam, LK; Watts, G; Houchen, A; Beal, S. Development and Implementation of the Readiness Assessment of Emerging Adults With Type 1 Diabetes Diagnosed in Youth (READDY) Tool. Diabetes spectrum : a publication of the American Diabetes Association. 2020; 33:99-103.

Cottrell, E; Cabrera, CP; Ishida, M; Chatterjee, S; Greening, J; Wright, N; Bossowski, A; Dunkel, L; Deeb, A; Basiri, IA; et al. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. European Journal of Endocrinology. 2020; 183:581-595.

Divers, J; Mayer-Davis, EJ; Lawrence, JM; Isom, S; Dabelea, D; Dolan, L; Imperatore, G; Marcovina, S; Pettitt, DJ; Pihoker, C; et al. Trends in Incidence of Type 1 and Type 2 Diabetes Among Youths - Selected Counties and Indian Reservations, United States, 2002-2015. Morbidity and Mortality Weekly Report. 2020; 69:161-165.

Eswarakumar, AS; Ma, NS; Ward, LM; Backeljauw, P; Wasserman, H; Weber, DR; DiMeglio, LA; Imel, EA; Gagne, J; Cody, D; et al. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics. 2020; 59:1080-1085.

Fujimoto, M; Khoury, JC; Khoury, PR; Kalra, B; Kumar, A; Sluss, P; Oxvig, C; Hwa, V; Dauber, A. Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood. European Journal of Endocrinology. 2020; 182:363-374.

Gourgari, E; Stafford, JM; Jr, DR; Dolan, LM; Lawrence, JM; Marcovina, S; Merjaneh, L; Mottl, AK; Shah, AS; Dabelea, D. The association of low-density lipoprotein cholesterol with elevated arterial stiffness in adolescents and young adults with type 1 and type 2 diabetes: The SEARCH for Diabetes in Youth study. Pediatric Diabetes. 2020; 21:863-870.

Grossoehme, DH; Smith, E; Standiford, D; Morwessel, N; Kichler, J; Maahs, DM; Driscoll, K; Seid, M. Understanding adolescent and parent acceptability and feasibility experience in a large Type 1 diabetes mellitus behavioural trial. Diabetic Medicine. 2020; 37:1134-1145.

Gutierrez-Colina, AM; Corathers, S; Beal, S; Baugh, H; Nause, K; Kichler, JC. Young Adults With Type 1 Diabetes Preparing to Transition to Adult Care: Psychosocial Functioning and Associations With Self-Management and Health Outcomes. Diabetes spectrum : a publication of the American Diabetes Association. 2020; 33:255-263.

Haley, JE; Zhiqian, G; Philip, KR; Nicolas, ML; Thomas, KR; Lawrence, DM; Elaine, UM. Reduction in myocardial strain is evident in adolescents and young adults with obesity and type 2 diabetes. Pediatric Diabetes. 2020; 21:243-250.

Hsia, DS; Shah, AS; Inge, T. Adolescent Metabolic/Bariatric Surgery: Effects on Obesity, Comorbidities, and Insulin Resistance. INSULIN RESISTANCE: CHILDHOOD PRECURSORS OF ADULT DISEASE, 2ND EDITION. : Springer International Publishing; Springer International Publishing; 2020.

Hsiao, W; Jung, SM; Tang, Y; Haley, JA; Li, R; Li, H; Calejman, CM; Sanchez-Gurmaches, J; Hung, C; Luciano, AK; et al. The Lipid Handling Capacity of Subcutaneous Fat Is Programmed by mTORC2 during Development. Cell Reports. 2020; 33:108223-108223.

Hughes, JJ; Alkhunaizi, E; Kruszka, P; Pyle, LC; Grange, DK; Berger, SI; Payne, KK; Masser-Frye, D; Hu, T; Christie, MR; et al. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. The American Journal of Human Genetics. 2020; 106:121-128.

Kahkoska, AR; Nguyen, CT; Jiang, X; Adair, LA; Agarwal, S; Aiello, AE; Burger, KS; Buse, JB; Dabelea, D; Dolan, LM; et al. Characterizing the weight-glycemia phenotypes of type 1 diabetes in youth and young adulthood. BMJ Open Diabetes Research and Care. 2020; 8:e000886-e000886.

Kaur, N; Starling, AP; Calafat, AM; Sjodin, A; Clouet-Foraison, N; Dolan, LM; Imperatore, G; Jensen, ET; Lawrence, JM; Ospina, M; et al. Longitudinal association of biomarkers of pesticide exposure with cardiovascular disease risk factors in youth with diabetes. Environmental Research. 2020; 181:108916-108916.

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.

Klein, KO; Rosenfield, RL; Santen, RJ; Gawlik, AM; Backeljauw, P; Gravholt, CH; Sas, TC J; Mauras, N. Estrogen replacement in turner syndrome. Turner Syndrome: Pathophysiology, Diagnosis and Treatment. : Springer International Publishing; Springer International Publishing; 2020.

Koebnick, C; Imperatore, G; Jensen, ET; Stafford, JM; Shah, AS; Mottl, AK; Bell, RA; Dabelea, D; Liese, AD; Marcovina, SM; et al. Progression to hypertension in youth and young adults with type 1 or type 2 diabetes: The SEARCH for Diabetes in Youth Study. Journal of Clinical Hypertension. 2020; 22:888-896.

Lawson, S; Redel, JM; Smego, A; Gulla, M; Schoettker, PJ; Jolly, M; Mostajabi, F; Hornung, L. Assessment of a Day Hospital Management Program for Children With Type 1 Diabetes. JAMA Network Open. 2020; 3:e200347-e200347.

Levenson, AE; Shah, AS; Khoury, PR; Kimball, TR; Urbina, EM; de Ferranti, SD; Maahs, DM; Dolan, LM; Wadwa, RP; Biddinger, SB. Obesity and type 2 diabetes are associated with elevated PCSK9 levels in young women (vol 18, pg 756, 2017). Pediatric Diabetes. 2020; 21:143-143.

Lin, AE; Santoro, S; High, FA; Goldenberg, P; Gutmark-Little, I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:53-63.

Logan, K; Lloyd, RS; Schafer-Kalkhoff, T; Khoury, JC; Ehrlich, S; Dolan, LM; Shah, AS; Myer, GD. Youth sports participation and health status in early adulthood: A 12-year follow-up. Preventive Medicine Reports. 2020; 19:101107-101107.

Malik, FS; Stafford, JM; Reboussin, BA; Klingensmith, GJ; Dabelea, D; Lawrence, JM; Mayer-Davis, E; Saydah, S; Corathers, S; Pihoker, C; et al. Receipt of recommended complications and comorbidities screening in youth and young adults with type 1 diabetes: Associations with metabolic status and satisfaction with care. Pediatric Diabetes. 2020; 21:349-357.

Monzon, AD; Smith, LB; Powers, SW; Dolan, LM; Patton, SR. The association between glycemic variability and macronutrients in young children with T1D. Journal of Pediatric Psychology. 2020; 45:749-758.

Muthuvel, G; Bartlett, MG; Absah, I. Chronic Feeding Intolerance in a 9-year-old Boy with a Complex Medical History. Pediatrics in review / American Academy of Pediatrics. 2020; 41:200-203.

Nasomyont, N; Hornung, LN; Wasserman, H. Intravenous bisphosphonate therapy in children with spinal muscular atrophy. Osteoporosis International. 2020; 31:995-1000.

Nasomyont, N; Keefe, C; Tian, C; Hornung, L; Khoury, J; Tilden, JC; Hochwalt, P; Jackson, E; Rybalsky, I; Wong, BL; et al. Safety and efficacy of teriparatide treatment for severe osteoporosis in patients with Duchenne muscular dystrophy. Osteoporosis International. 2020; 31:2449-2459.

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.

Nelson, ML; Cox, C; Altman, L; Khoury, J; Bhattacharya, A; Wasserman, H. Bone Shock Absorption in Pediatric Patients With Osteogenesis Imperfecta – A Pilot Study to Assess the Potential of this Technique to Detect Differences in Bone Fragility. Journal of Clinical Densitometry. 2020; 23:685-689.

Roberts, AJ; Taplin, CE; Isom, S; Divers, J; Saydah, S; Jensen, ET; Mayer-Davis, EJ; Reid, LA; Liese, AD; Dolan, LM; et al. Association between fear of hypoglycemia and physical activity in youth with type 1 diabetes: The SEARCH for diabetes in youth study. Pediatric Diabetes. 2020; 21:1277-1284.

Rughani, A; Zhang, D; Vairamani, K; Dauber, A; Hwa, V; Krishnan, S. Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein. Clinical Endocrinology. 2020; 92:331-337.

Rutter, MM; Wong, BL; Collins, JJ; Sawnani, H; Taylor, MD; Horn, PS; Backeljauw, PF. Recombinant human insulin-like growth factor-1 therapy for 6 months improves growth but not motor function in boys with Duchenne muscular dystrophy. Muscle and Nerve. 2020; 61:623-631.

Ryder, JR; Northrop, E; Rudser, KD; Kelly, AS; Gao, Z; Khoury, PR; Kimball, TR; Dolan, LM; Urbina, EM. Accelerated Early Vascular Aging Among Adolescents With Obesity and/or Type 2 Diabetes Mellitus. Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease. 2020; 9.

Sauder, KA; Stafford, JM; The, NS; Mayer-Davis, EJ; Thomas, J; Lawrence, JM; Kim, G; Siegel, KR; Jensen, ET; Shah, AS; et al. Dietary strategies to manage diabetes and glycemic control in youth and young adults with youth-onset type 1 and type 2 diabetes: The SEARCH for diabetes in youth study. Pediatric Diabetes. 2020; 21:1093-1101.

Savendahl, L; Polak, M; Backeljauw, P; Blair, J; Miller, B; Rohrer, T; Pietropoli, A; Ostrow, V; Ross, J. Treatment of Children With GH in the United States and Europe: Long-Term Follow-Up From NordiNet (R) IOS and ANSWER Program (vol 104, pg 4730, 2019). Journal of Clinical Endocrinology and Metabolism. 2020; 105:E2319-E2319.

Semova, I; Levenson, AE; Krawczyk, J; Bullock, K; Williams, KA; Wadwa, RP; Khoury, PR; Kimball, TR; Urbina, EM; de Ferranti, SD; et al. Markers of cholesterol synthesis are elevated in adolescents and young adults with type 2 diabetes. Pediatric Diabetes. 2020; 21:1126-1131.

Shah, AS; Jaiswal, M; Dabelea, D; Divers, J; Isom, S; Liese, AD; Lawrence, JM; Kim, G; Urbina, EM. Cardiovascular risk and heart rate variability in young adults with type 2 diabetes and arterial stiffness: The SEARCH for Diabetes in Youth Study. Journal of Diabetes and Its Complications. 2020; 34:107676-107676.

Shah, AS; Nadeau, KJ. The changing face of paediatric diabetes. Diabetologia. 2020; 63:683-691.

Shah, AS; Nadeau, KJ; Helmrath, MA; Inge, TH; Xanthakos, SA; Kelsey, MM. Metabolic outcomes of surgery in youth with type 2 diabetes. Seminars in Pediatric Surgery. 2020; 29:150893-150893.

Shapiro, MR; Foster, TP; Perry, DJ; Rosenfeld, RG; Dauber, A; McNichols, JA; Muir, A; Hwa, V; Brusko, TM; Jacobsen, LM. A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2020; 93:322-334.

Sheanon, NM; Beal, SJ; Kichler, JC; Casnellie, L; Backeljauw, P; Corathers, S. Readiness for transition to adult care in adolescents and young adults with Turner syndrome. Journal of Pediatric Endocrinology and Metabolism. 2020; 33:1165-1171.

Speiser, PW; Chawla, R; Chen, M; Diaz-Thomas, A; Finlayson, C; Rutter, MM; Sandberg, DE; Shimy, K; Talib, R; Cerise, J; et al. Newborn screening protocols and positive predictive value for congenital adrenal hyperplasia vary across the United States. International Journal of Neonatal Screening. 2020; 6:37-37.

Sundstrom, E; Jonnagiri, R; Gutmark-Little, I; Gutmark, E; Critser, P; Taylor, MD; Tretter, JT. Effects of Normal Variation in the Rotational Position of the Aortic Root on Hemodynamics and Tissue Biomechanics of the Thoracic Aorta. Cardiovascular Engineering and Technology. 2020; 11:47-58.

Sundstrom, E; Jonnagiri, R; Gutmark-Little, I; Gutmark, E; Critser, P; Taylor, MD; Tretter, JT. Hemodynamics and tissue biomechanics of the thoracic aorta with a trileaflet aortic valve at different phases of valve opening. International Journal for Numerical Methods in Biomedical Engineering. 2020; 36.

Tian, C; Wong, BL; Hornung, L; Khoury, JC; Rybalsky, I; Shellenbarger, KC; Rutter, MM. Oral bisphosphonate treatment in patients with Duchenne muscular dystrophy on long term glucocorticoid therapy. Neuromuscular Disorders. 2020; 30:599-610.

Tryggestad, JB; Shah, RD; Braffett, BH; Bacha, F; Gidding, SS; Gubitosi-Klug, RA; Shah, AS; Urbina, EM; Katz, LE L; Grp, TO D A Y S. Circulating adhesion molecules and associations with HbA1c, hypertension, nephropathy, and retinopathy in the Treatment Options for type 2 Diabetes in Adolescent and Youth study. Pediatric Diabetes. 2020; 21:923-931.

Zemel, BS; Wasserman, H; Kelly, A; Fan, B; Shepherd, J; Lappe, J; Gilsanz, V; Oberfield, S; Winer, KK; Kalkwarf, HJ. Intermachine differences in DXA measurements vary by skeletal site, and impact the assessment of low bone density in children. Bone. 2020; 141:115581-115581.

Zhang, KX; D'Souza, S; Upton, BA; Kernodle, S; Vemaraju, S; Nayak, G; Gaitonde, KD; Holt, AL; Linne, CD; Smith, AN; et al. Violet-light suppression of thermogenesis by opsin 5 hypothalamic neurons. Nature. 2020; 585:420-425.