Resident Research

Christy Ullrich and Anne Wu working on their study, published in JAMA, that a low reticulocyte hemoglobin is an early indicator of iron deficiency.

Although there is no formal research requirement, many residents do research, particularly clinical research during their training. Children’s Hospital and Boston Medical Center both have federally funded General Clinical Research Centers and Children’s has an outstanding Institutional Center for Clinical & Translational Research (ITTCR), with biostatisticians, epidemiologists, and other personnel to aid in experimental design and regulatory approval of a project.

Children’s is also part of Harvard Catalyst, a consortium of Harvard hospitals and resources dedicated to clinical research. The Harvard Catalyst provides incredible resources for interconnecting investigators with common interests across the Harvard community and has introduced very powerful tools that facilitate clinical research, such as the Shared Health Research Information Network (SHRINE), an interactive database of patients seen at the Harvard hospitals who meet clinical criteria of interest. Catalyst also provides education and training in clinical research, pilot funding, core facilities and many other services.

Residents present at national conferences every year

Faculty members at both Children’s and BMC are eager to help residents with research, and many serve as mentors for research projects. The Academic Development Block provides a time to do small projects or conclude larger ones and the new Academy of Investigation and Academy of Clinical Innovation emphasize research.

Both the Department of Pediatrics at Children’s Hospital, and the hospital sponsor Research Days where residents and fellows can present their work. In addition, 15-30 current or recently graduated BCRP houseofficers submitted 21 abstracts of research they did during residency to the Pediatric Academic Societies spring meeting in Boston, MA., April 28-May 1, 2012. Though not all resident research is published, much of it is, and often it is of high quality.

 

One hundred eleven examples of research done by residents and published during the past 1.6 years follow (resident names are in bold):

2020

  • Basak A, Munschauer M, Lareau CA, Montbleau KE, Ulirsch JC, Hartigan CR, Schenone M, Lian J, Wang Y, Huang Y, Wu X, Gehrke L, Rice CM, An X, Christou HA, Mohandas N, Carr SA, Chen JJ, Orkin SH, Lander ES, Sankaran VG. Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. Nat Genet. 2020 Feb;52(2):138-145.
  • Behne R, Teinert J, Wimmer M, D’Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 Jan 15;29(2):320-334.
  • Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 Jan;182(1):189-194.
  • Bucholz EM, Toomey SL, Butala NM, Chien AT, Yeh RW, Schuster MA. Suitability of elderly adult hospital readmission rates for profiling readmissions in younger adult and pediatric populations. Health Serv Res. 2020 Apr;55(2):277-287
  • Butala NM, Bucholz EM, Kolte D, Elmariah S. Association of Hospital Inpatient Percutaneous Coronary Intervention Volume With Clinical Outcomes After Transcatheter Aortic Valve Replacement and Transcatheter Mitral Valve Repair. JAMA Cardiol. 2020 Feb 12;5(4):464-8.
  • Chan RF, Shabalin AA, Montano C, Hannon E, Hultman CM, Fallin MD, Feinberg AP, Mill J, van den Oord EJCG, Aberg KA. Independent Methylome-Wide Association Studies of Schizophrenia Detect Consistent Case-Control Differences. Schizophr Bull. 2020 Feb 26;46(2):319-327.
  • Chiel L, Winthrop Z, S Winn A. The COVID-19 Pandemic and Pediatric Graduate Medical Education. Pediatrics. 2020 May 20:e20201057. Online ahead of print.
  • Chrzanowski SM, Darras BT, Rutkove SB. The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials. Neurotherapeutics. 2020 Jan;17(1):142-152.
  • Coburn SS, Callon WA, Eakin MN, Pruette CS, Brady TM, Mendley SR, Tuchman S, Fivush BA, Riekert KA. Evaluating provider communication in pediatric chronic kidney disease care using a global coding system. Patient Educ Couns. 2020 Jul;103(7):1358-1365.
  • D’Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 Apr;7(4):584-589.
  • Enane LA, Eby J, Arscott-Mills T, Argabright S, Caiphus C, Kgwaadira B, Steenhoff AP, Lowenthal ED. TB and TB-HIV care for adolescents and young adults. Int J Tuberc Lung Dis. 2020 Feb 1;24(2):240-249
  • Goedel WC, Shapiro A, Cerdá M, Tsai JW, Hadland SE, Marshall BDL. Association of Racial/Ethnic Segregation With Treatment Capacity for Opioid Use Disorder in Counties in the United States. JAMA Netw Open. 2020 Apr 1;3(4):e203711.
  • Gross CJ, Chiel LE, Gomez AR, Marcus CH, Michelson CD, Winn AS. Defining the Essential Components of a Teaching Service. Pediatrics. 2020 Jun 2:e20200651.
  • Gross C, O’Halloran C, Winn AS, Lux SE, Michelson CD, Sectish T, Sox CM. Application Factors Associated With Clinical Performance During Pediatric Internship. Acad Pediatr. 2020 Apr 5:S1876-2859(20)30130-3. Online ahead of print.
  • Haimes H, Corey K, Mostaghimi A, Schmidt B, Gellis SE, Liang MG. Pediatric facial pyoderma gangrenosum preceding the diagnosis of inflammatory bowel disease. Pediatr Dermatol. 2020 Apr 27. doi: 10.1111/pde.14186. Online ahead of print.
  • Hannaford A, Lim J, Moll AP, Khoza B, Shenoi SV. ‘PrEP should be for men only’: Young heterosexual men’s views on PrEP in rural South Africa. Glob Public Health. 2020 Mar 24:1-12.
  • Horlbeck MA, Liu SJ, Chang HY, Lim DA, Weissman JS. Fitness effects of CRISPR/Cas9-targeting of long noncoding RNA genes. Nat Biotechnol. 2020 May;38(5):573-576.
  • Judge SM, Deyhle MR, Neyroud D, Nosacka RL, D’Lugos AC, Cameron ME, Vohra RS, Smuder AJ, Roberts BM, Callaway CS, Underwood PW, Chrzanowski SM, Batra A, Murphy ME, Heaven JD, Walter GA, Trevino JG, Judge AR. MEF2c-Dependent Downregulation of Myocilin Mediates Cancer-Induced Muscle Wasting and Associates with Cachexia in Patients with Cancer. Cancer Res. 2020 May 1;80(9):1861-1874.
  • Juttukonda LJ, Katz S, Gillon J, Schmitz J, Banerjee R. Impact of a Rapid Blood Culture Diagnostic Test in a Children’s Hospital Depends on Gram-Positive versus Gram-Negative Organism and Day versus Night Shift. J Clin Microbiol. 2020 Mar 25;58(4):e01400-19.
  • Links AR, Callon W, Wasserman C, Walsh J, Tunkel DE, Beach MC, Boss EF. Parental role in decision-making for pediatric surgery: Perceptions of involvement in consultations for tonsillectomy. Patient Educ Couns. 2020 May;103(5):944-951.
  • Louer R, Bowen A, Mannix R.  A Teenager Presenting With Rash and Visual Disturbance. Pediatr Infect Dis J. 2020 Feb;39(2):173.
  • Maggipinto S, Chen A, Huynh D, Heutlinger O, Eberenz K, Mallick S, Marshall T, Desai R, Wolbrink TA, Boone PM. Free, online videos for distance learning in medical genetics. Eur J Med Genet. 2020 Jun 12:103983.
  • Marshall GD, Neal JT. Young Girl With Headache. Ann Emerg Med. 2020 Apr;75(4):e21-e22.
  • Moon C, Alizadeh F, Chaw GF, Mulongo MI, Schaefle K, Yao-Cohen M, Musominalli S, Paccione G. An educational intervention in rural Uganda: Risk-targeted home talks by village health workers. Patient Educ Couns. 2020 Jun;103(6):1209-1215.
  • Muindi FJ, Ramachandran L, Tsai JW. Human Narratives in Science: The Power of Storytelling. Trends Mol Med. 2020 Mar;26(3):249-251.
  • Pickard SS, Wong JB, Bucholz EM, Newburger JW, Tworetzky W, Lafranchi T, Benson CB, Wilkins-Haug LE, Porras D, Callahan R, Friedman KG. Fetal Aortic Valvuloplasty for Evolving Hypoplastic Left Heart Syndrome: A Decision Analysis. Circ Cardiovasc Qual Outcomes. 2020 Apr;13(4):e006127.
  • Rabinowitz DG, Sundheim KM. Trainee-Directed Educational Pursuits and Advocacy During the COVID-19 Pandemic. Pediatrics. 2020 Jun 17:e20201564. doi: 10.1542/peds.2020-1564. Online ahead of print.
  • Raissadati A, Haukka J, Pätilä T, Nieminen H, Jokinen E. Chronic Disease Burden After Congenital Heart Surgery: A 47-Year Population-Based Study With 99% Follow-Up. J Am Heart Assoc. 2020 May 5;9(9):e015354.
  • Raissadati A, Knihtilä H, Pätilä T, Nieminen H, Jokinen E. Long-term Social Outcomes After Congenital Heart Surgery. Pediatrics. 2020 Jun 5:e20193745.
  • Robson VK, Shieh HF, Wilson JM, Buchmiller TL. Non-operative management of extralobar pulmonary sequestration: a safe alternative to resection? Pediatr Surg Int. 2020 Mar;36(3):325-331.
  • Stephens JH, Alizadeh F, Bamwine JB, Baganizi M, Chaw GF, Yao Cohen M, Patel A, Schaefle KJ, Mangat JS, Mukiza J, Paccione GA. Managing hypertension in rural Uganda: Realities and strategies 10 years of experience at a district hospital chronic disease clinic. PLoS One. 2020 Jun 5;15(6):e0234049.
  • Srivastava S, D’Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 Apr;7(4):573-578.
  • Teinert J, Behne R, Wimmer M, Ebrahimi-Fakhari D. Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. J Inherit Metab Dis. 2020 Jan;43(1):51-62.
  • Tsai JW, Kesselheim JC. Addressing implicit bias in pediatric hematology-oncology. Pediatr Blood Cancer. 2020 May;67(5):e28204.
  • Tsai JW, Michelson CD. Attitudes Toward Implicit Bias and Implicit Bias Training Among Pediatric Residency Program Directors: A National Survey. J Pediatr. 2020 Jun;221:4-6.e1.
  • Wahlster L, Weichert-Leahey N, Trissal M, Grace RF, Sankaran VG. COVID-19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation. Pediatr Blood Cancer. 2020 Jun 3:e28382.
  • Wu CW, Mann N, Nakayama M, Connaughton DM, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Wang C, Klämbt V, Seltzsam S, Lai EW, Selvin A, Senguttuva P, Bodamer O, Stein DR, El Desoky S, Kari JA, Tasic V, Bauer SB, Shril S, Hildebrandt F. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 Jun 1. doi: 10.1038/s41436-020-0844-z. Online ahead of print.

2019

  • Alizadeh F, Mfitumuhoza G, Stephens J, Habimaana C, Myles K, Baganizi M, Paccione G. Identifying and Reengaging Patients Lost to Follow-Up in Rural Africa: The “Horizontal” Hospital-Based Approach in Uganda. Glob Health Sci Pract. 2019 Mar 29;7(1):103-115.
  • Andzelm MM, Vanness D, Greenberg ME, Linden DJ. A Late Phase of Long-Term Synaptic Depression in Cerebellar Purkinje Cells Requires Activation of MEF2. Cell Rep. 2019 Jan 29;26(5):1089-1097
  • Batra A, Vohra RS, Chrzanowski SM, Hammers DW, Lott DJ, Vandenborne K, Walter GA, Forbes SC. Effects of PDE5 inhibition on dystrophic muscle following an acute bout of downhill running and endurance training. J Appl Physiol (1985). 2019 Apr 4. doi: 10.1152/japplphysiol.00664.2018. Appl Physiol 2019 Jun 1;126(6):1737-1745.
  • Bayles I, Krajewska M, Pontius WD, Saiakhova A, Morrow JJ, Bartels C, Lu J, Faber ZJ, Fedorov Y, Hong ES, Karnuta JM, Rubin B, Adams DJ, George RE, Scacheri PC. Ex vivo screen identifies CDK12 as a metastatic vulnerability in osteosarcoma. J Clin Invest. 2019 Oct 1;129(10):4377-4392.
  • Beach MC, Callon W, Boss E. Patient-centered decision-making. Patient Educ Couns. 2019 Jan;102(1):1-2.
  • Bernhardt LJ, Lin S, Swegman C, Sellke R, Vu A, Solomon BS, Cuneo CN. The Refugee Health Partnership: A Longitudinal Experiential Medical Student Curriculum in Refugee/Asylee Health. Acad Med. 2019 Apr;94(4):544-549.
  • Berry JG, Goodman DM, Coller RJ, Agrawal R, Kuo DZ, Cohen E, Thomson J, DeCourcey D, DeJong N, Agan A, Gaur D, Coquillette M, Crofton C, Houtrow A, Hall M. Association of Home Respiratory Equipment and Supply Use with Health Care Resource Utilization in Children. J Pediatr. 2019 Apr;207:169-175.e2.
  • Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 Jan 25. doi: 10.1164/rccm.201807-1212CI. [Epub ahead of print]
  • Bucholz EM, Toomey SL, Schuster MA. Trends in Pediatric Hospitalizations and Readmissions: 2010-2016. Pediatrics. 2019 Feb;143(2). pii: e20181958. doi: 10.1542/peds.2018-1958.
  • Callander D, Park SH, Schneider JA, Khan MR, Kreski NT, Hambrick HR, Goedel WC, Duncan DT. City of love: group sex is associated with risks for HIV and other sexually transmissible infections among gay and bisexual men in Paris, France. Sex Health. 2019 Apr;16(2):192-194.
  • Campbell JI, Musiimenta A, Burns B, Natukunda S, Musinguzi N, Haberer JE, Eyal N. The importance of how research participants think they are perceived: results from an electronic monitoring study of antiretroviral therapy in Uganda. AIDS Care. 2019 Jun;31(6):761-766.
  • Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O’Seaghdha CM, Plant WD, Griffin MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, Hildebrandt F. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 Apr;95(4):914-928.
  • Coquillette M, Lee RS, Pagni SE, Cataltepe S, Stein DR. Renal outcomes of neonates with early presentation of posterior urethral valves: a 10-year single center experience. J Perinatol. 2020 Jan;40(1):112-117.
  • D’Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 Apr;182(4):780-784.
  • Dionne A, Bucholz EM, Gauvreau K, Gould P, Son MBF, Baker AL, de Ferranti SD, Fulton DR, Friedman KG, Newburger JW. Impact of Socioeconomic Status on Outcomes of Patients with Kawasaki Disease. J Pediatr. 2019 Sep;212:87-92.
  • Dubin S, Goedel WC, Park SH, Hambrick HR, Schneider JA, Duncan DT. Perceived Candidacy for Pre-exposure Prophylaxis (PrEP) Among Men Who Have Sex with Men in Paris, France. AIDS Behav. 2019 Jul;23(7):1771-1779.
  • Dunbar P, Hall M, Gay JC, Hoover C, Markham JL, Bettenhausen JL, Perrin JM, Kuhlthau KA, Crossman M, Garrity B, Berry JG. Hospital Readmission of Adolescents and Young Adults With Complex Chronic Disease. JAMA Netw Open. 2019 Jul 3;2(7):e197613.
  • Duncan DT, Zweig S, Hambrick HR, Palamar JJ. Sexual Orientation Disparities in Prescription Opioid Misuse Among U.S. Adults. Am J Prev Med. 2019 Jan;56(1):17-26.
  • Datkhaeva I, Has P, Fitzgerald K, Hughes BL. Outcomes of a negative rapid influenza diagnostic test in pregnant women. Am J Perinatol. 2019 Jan;36(1):90-96
  • Ebrahimi-Fakhari D, Hussong J, Flotats-Bastardas M, Zemlin M, von Gontard A, Meyer S. Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study. Neuropediatrics. 2019 Oct;50(5):294-299.
  • Ebrahimi-Fakhari D, Münchau A, Stamelou M. A special issue on childhood-onset movement disorders. Mov Disord. 2019 May;34(5):595-597.
  • Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 May;34(5):598-613. 
  • Edward HL, D’Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 Apr 22. doi: 10.1002/ajmg.a.61150. Jul;179(7):1299-1303.
  • Fu C, Luo S, Zhang Y, Fan X, D’Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB, Li Q, Chen S. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clin Chim Acta. 2019 Feb;489:103-108.
  • Geanacopoulos AT, Porter JJ, Monuteaux MC, Lipsett SC, Neuman MI. Trends in Chest Radiographs for Pneumonia in Emergency Departments. Pediatrics. 2020 Mar;145(3):e20192816.
  • Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med. 2019 Jul;21(7):1611-1620.
  • Haimes H, Morley KW, Song H, Okhovat JP, Schmidt B, Huang JT. Impact of skin biopsy on the management of acute graft-versus-host disease in a pediatric population. Pediatr Dermatol. 2019 Apr 23. doi: 10.1111/pde.13840. Jul;36(4):455-459.
  • Harry-Hernández S, Park SH, Mayer KH, Kreski N, Goedel WC, Hambrick HR, Brooks B, Guilamo-Ramos V, Duncan DT. Sex Tourism, Condomless Anal Intercourse, and HIV Risk Among Men Who Have Sex With Men. J Assoc Nurses AIDS Care. 2019 Jul-Aug;30(4):405-414.
  • Herrick-Reynolds K, Sewanan LR, Zheng DJ, Wang P, Encandela J, Shahu A, Reisman A. A novel near-peer reflective writing workshop. Clin Teach. 2019 Aug;16(4):339-344.
  • Howard TP, Arnoff TE, Song MR, Giacomelli AO, Wang X, Hong AL, Dharia NV, Wang S, Vazquez F, Pham MT, Morgan AM, Wachter F, Bird GH, Kugener G, Oberlick EM, Rees MG, Tiv HL, Hwang JH, Walsh KH, Cook A, Krill-Burger JM, Tsherniak A, Gokhale PC, Park PJ, Stegmaier K, Walensky LD, Hahn WC, Roberts CWM. MDM2 and MDM4 Are Therapeutic Vulnerabilities in Malignant Rhabdoid Tumors. Cancer Res. 2019 May 1;79(9):2404-2414.
  • Ishizuka JJ, Manguso RT, Cheruiyot CK, Bi K, Panda A, Iracheta-Vellve A, Miller BC, Du PP, Yates KB, Dubrot J, Buchumenski I, Comstock DE, Brown FD, Ayer A, Kohnle IC, Pope HW, Zimmer MD, Sen DR, Lane-Reticker SK, Robitschek EJ, Griffin GK, Collins NB, Long AH, Doench JG, Kozono D, Levanon EY, Haining WN. Loss of ADAR1 in tumours overcomes resistance to immune checkpoint blockade. Nature. 2019 Jan;565(7737):43-48.
  • Jahnukainen T, Lauronen J, Raissadati A, Pihkala JI, Ylinen E, Puntila JT, Salminen JT, Pätilä T, Mattila IP, Jalanko HJ. Development of Human Leukocyte Antigen (HLA) Antibodies Against Vascular Homograft Donor in Pediatric Heart Transplant Recipients. Ann Transplant. 2019 Aug 6;24:454-460.
  • Kalluri NS, Burnham LA, Lopera AM, Stickney DM, Combs GL, Levesque BM, Philipp BL, Parker MG. A Quality Improvement Project to Increase Mother’s Milk Use in an Inner-City NICU. Pediatr Qual Saf. 2019 Aug 30;4(5):e204.
  • Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics. 2019 Aug;50(4):257-261
  • Keränen MAI, Raissadati A, Nykänen AI, Dashkevich A, Tuuminen R, Krebs R, Johnson RS, Syrjälä SO, Lemström KB. Hypoxia-inducible factor controls immunoregulatory properties of myeloid cells in mouse cardiac allografts – an experimental study. Transpl Int. 2019 Jan;32(1):95-106.
  • Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P,Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct;138(10):1105-1115.
  • Koski TK, Suominen PK, Raissadati A, Knihtilä HM, Ojala TH, Salminen JT. The effect of sildenafil on pleural and peritoneal effusions after the TCPC operation. Acta Anaesthesiol Scand. 2019 Nov;63(10):1384-1389.
  • Lee JT, Lechner MG, Vaidya A, Weinmann M. Bridging the Gap. N Engl J Med. 2019 Jan 31;380(5):e6.
  • Lee-McMullen B, Chrzanowski SM, Vohra R, Forbes SC, Vandenborne K, Edison AS, Walter GA. Age-dependent changes in metabolite profile and lipid saturation in dystrophic mice. NMR Biomed. 2019 May;32(5):e4075.
  • Lee PY, Schulert GS, Canna SW, Huang Y, Sundel J, Li Y, Hoyt KJ, Blaustein RB, Wactor A, Do T, Halyabar O, Chang MH, Dedeoglu F, Case SM, Meidan E, Lo MS, Sundel RP, Richardson ET, Newburger JW, Hershfield MS, Son MB, Henderson LA, Nigrovic PA. Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis. Ann Rheum Dis. 2020 Feb;79(2):225-231.
  • Links AR, Callon W, Wasserman C, Walsh J, Beach MC, Boss EF. Surgeon use of medical jargon with parents in the outpatient setting. Patient Educ Couns. 2019 Feb 3. pii: S0738-3991(18)30781-X.
  • Li AH, Hanchard NA, Azamian M, D’Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 Apr;27(4):563-573.
  • Long AH, Fiore JG, Gillani R, Douglass LM, Fujii AM, Hoffman JD. Hypotonia and Lethargy in a Two-Day-Old Male Infant. Pediatrics. 2019 Jul;144(1):e20180788.
  • Majidi SP, Reddy NC, Moore MJ, Chen H, Yamada T, Andzelm MM, Cherry TJ, Hu LS, Greenberg ME, Bonni A. Chromatin Environment and Cellular Context Specify Compensatory Activity of Paralogous MEF2 Transcription Factors. Cell Rep. 2019 Nov 12;29(7):2001-2015.
  • Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 Feb;30(2):201-215.
  • Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 Dec 5;105(6):1286-1293. 
  • Mgbako O, Park SH, Mayer KH, Schneider JA, Goedel WC, Hambrick HR, Duncan DT. Transactional Sex and Preferences for Pre-Exposure Prophylaxis (PrEP) Administration Modalities Among Men Who Have Sex With Men (MSM). J Sex Res. 2019 May-Jun;56(4-5):650-658.
  • Miller KA, Hillier D, Russ C, Luercio M, Winn AS. Applying Self-Determination Theory to Redesign an Inpatient Care Team. Acad Pediatr. 2019 Apr;19(3):351-353.
  • Mortazavi BJ, Bucholz EM, Desai NR, Huang C, Curtis JP, Masoudi FA, Shaw RE, Negahban SN, Krumholz HM. Comparison of Machine Learning Methods With National Cardiovascular Data Registry Models for Prediction of Risk of Bleeding After Percutaneous Coronary Intervention. JAMA Netw Open. 2019 Jul 3;2(7):e196835. 
  • Miller KA, Hillier D, Russ C, Luercio M, Winn AS. Applying Self-Determination Theory to Redesign an Inpatient Care Team. Acad Pediatr. 2019 Apr;19(3):351-353.
  • Nagin P, Salandy A, Diaz A. Unpacking the Influence of Abuse and Depression on Grades among Urban Ethnic Minority Adolescents and Young Adults. Ann Glob Health. 2019 Apr 9;85(1):55.
  • Niccum M, Khan MN, Middleton JP, Vergales BD, Syed S. Cholestasis affects enteral tolerance and prospective weight gain in the NICU. Clin Nutr ESPEN. 2019 Apr;30:119-125.
  • O’Halloran CP, Andren KG, Mecklosky J, Larsen S, Brediger S, Vitali S, Zalieckas JM, Fynn-Thompson F, Thiagarajan RR, Alexander PMA. Mortality and Factors Associated With Hemorrhage During Pediatric Extracorporeal Membrane Oxygenation. Pediatr Crit Care Med. 2020 Jan;21(1):75-81.
  • O’Halloran CP, Thiagarajan RR, Yarlagadda VV, Barbaro RP, Nasr VG, Rycus P, Anders M, Alexander PMA. Outcomes of Infants Supported With Extracorporeal Membrane Oxygenation Using Centrifugal Versus Roller Pumps: An Analysis From the Extracorporeal Life Support Organization Registry. Pediatr Crit Care Med. 2019 Dec;20(12):1177-1184. 
  • Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 Aug 1;105(2):302-316.
  • Perdomo J, Tolliver D, Hsu H, He Y, Nash KA, Donatelli S, Mateo C, Akagbosu C, Alizadeh F, Power-Hays A, Rainer T, Zheng DJ, Kistin CJ, Vinci RJ, Michelson CD. Health Equity Rounds: An Interdisciplinary Case Conference to Address Implicit Bias and Structural Racism for Faculty and Trainees. MedEdPORTAL. 2019 Nov 22;15:10858.
  • Poole NM, Shapiro DJ, Fleming-Dutra KE, Hicks LA, Hersh AL, Kronman MP. Antibiotic Prescribing for Children in United States Emergency Departments: 2009-2014. Pediatrics. 2019 Feb;143(2). pii: e20181056.
  • Qualls AE, Donkervoort S, Herkert JC, D’Gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve. 2019 Mar;59(3):357-362.
  • Robson VK, Stopp C, Wypij D, Dunbar-Masterson C, Bellinger DC, DeMaso DR, Rappaport LA, Newburger JW. Longitudinal Associations between Neurodevelopment and Psychosocial Health Status in Patients with Repaired D-Transposition of the Great Arteries. J Pediatr. 2019 Jan;204:38-45.e1.
  • Rowland MJ, Ezra M, Winkler A, Garry P, Lamb C, Kelly M, Okell TW, Westbrook J, Wise RG, Douaud G, Pattinson KT. Version 2. Calcium channel blockade with nimodipine reverses MRI evidence of cerebral oedema following acute hypoxia.  J Cereb Blood Flow Metab. 2019 Feb;39(2):285-301. 
  • Rowland MJ, Urman RD, Xu X, Ehrenfeld JM, Preiss DA, Vacanti JC. The Impact of Airway Technique on Anesthesia Control Time. J Med Syst. 2019 Feb 11;43(3):72.
  • Scott KW, Callahan DG, Chen JJ, Lynn MH, Cote DJ, Morenz A, Fisher J, Antoine VL, Lemoine ER, Bakshi SK, Stuart J, Hundert EM, Chang BS, Gooding H. Fostering Student-Faculty Partnerships for Continuous Curricular Improvement in Undergraduate Medical Education. Acad Med. 2019 Jul;94(7):996-1001.
  • Silva HM, Báfica A, Rodrigues-Luiz GF, Chi J, Santos PDA, Reis BS, Hoytema van Konijnenburg DP, Crane A, Arifa RDN, Martin P, Mendes DAGB, Mansur DS, Torres VJ, Cadwell K, Cohen P, Mucida D, Lafaille JJ. Vasculature-associated fat macrophages readily adapt to inflammatory and metabolic challenges. J Exp Med. 2019 Apr 1;216(4):786-806.
  • Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 Oct;96(4):883-889. 
  • Spellun AH, Moreland CJ, Kushalnagar P. Young Deaf Adults’ Knowledge of Human Papillomavirus and Human Papillomavirus Vaccine’s Effectiveness in Preventing Cervical, Anal, Penile, and Oral Cancer. J Pediatr Adolesc Gynecol. 2019 Jun;32(3):293-299. 
  • Teinert J, Behne R, D’Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 Oct;40:101575.
  • Valtis YK, Rosenberg JD, Wachter K, Kisenge R, Mashili F, Chande Mallya R, Walker TD, Kabakambira JD, Egide A, Ntacyabukura B, Weintraub R. Better evidence: prospective cohort study assessing the utility of an evidence-based clinical resource at the University of Rwanda. BMJ Open. 2019 Aug 8;9(8):e026947.
  • Wang L, Tan TK, Durbin AD, Zimmerman MW, Abraham BJ, Tan SH, Ngoc PCT, Weichert-Leahey N, Akahane K, Lawton LN, Rokita JL, Maris JM, Young RA, Look AT, Sanda T. ASCL1 is a MYCN- and LMO1-dependent member of the adrenergic neuroblastoma core regulatory circuitry. Nat Commun. 2019 Dec 9;10(1):5622.
  • Weir IR, Marshall GD, Schneider JI, Sherer JA, Lord EM, Gyawali B, Paasche-Orlow MK, Benjamin EJ, Trinquart L.  Interpretation of time-to-event outcomes in randomized trials: an online randomized experiment. Ann Oncol. 2019 Jan 1;30(1):96-102.
  • Wilder JL, Nadar D, Gujral N, Ortiz B, Stevens R, Holder-Niles F, Lee J, Gaffin JM. Pediatrician Attitudes toward Digital Voice Assistant Technology Use in Clinical Practice. Appl Clin Inform. 2019 Mar;10(2):286-294.
  • Winn AS, Gross CJ, Silverman LB, Kesselheim JC. Divide and conquer: Evaluation of a redesign of a pediatric teaching service. Pediatr Blood Cancer. 2019 Mar 29:e27738.
  • Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 Dec;39(12):1611-1619.
  • Zielonka B, Kim YY, Supple GE, Partington SL, Ruckdeschel ES, Marchlinski FE, Frankel DS. Improvement in ventricular function with rhythm control of atrial arrhythmias may delay the need for atrioventricular valve surgery in adults with congenital heart disease. Congenit Heart Dis. 2019 Nov;14(6):931-938. 
  • Zielonka B, Snarr BS, Liu MY, Zhang X, Mascio CE, Fuller S, Gaynor JW, Spray TL, Rychik J. Resource Utilization for Prenatally Diagnosed Single-Ventricle Cardiac Defects: A Philadelphia Fetus-to-Fontan Cohort Study. J Am Heart Assoc. 2019 Jun 4;8(11):e011284.

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