Letter |
| Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M, JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease. Blood cells, molecules & diseases, 2011 Jan 15;46(1):103-4 | 2011 |
Journal Article |
| Boothe E, West B, Hendon LG, Kaplan JD, Kirmse B, Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution. Journal of perinatology : official journal of the California Perinatal Association, 2022 Feb;42(2):262-268 | 2022 |
| Boothe E, West B, Hendon LG, Kaplan JD, Kirmse B. Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution. J Perinatol. 2021 Jul 23. doi: 10.1038/s41372-021-01070-1. | 2021 |
| Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Bellen HJ, Tan QK. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 Jul 19:S0002-9297(21)00267-6. doi: 10.1016/j.ajhg.2021.06.019. | 2021 |
| Kour S, Rajan DS, Fortuna TR … Kirmse B … et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications | 2021 |
| Whalen S, Shaw M, Mignot C… Kirmse B … et al. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal Human Genetics (Nature Publishing Co.) | 2021 |
| Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Bellen HJ, Tan QK, TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American journal of human genetics, 2021 Sep 2;108(9):1669-1691 | 2021 |
| Bradbury RS, Lane M, Arguello I, Handali S, Cooley G, Pilotte N, Williams JM, Jameson S, Montgomery SP, Hellmann K, Tharp M, Haynie L, Galloway R, Brackin B, Kirmse B, Stempak L, Byers P, Williams S, Faruque F, Hobbs CV, Parasitic Disease Surveillance, Mississippi, USA. Emerging infectious diseases, 2021 Aug;27(8):2201-2204 | 2021 |
| Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB, Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature communications, 2021 May 7;12(1):2558 | 2021 |
| Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium, Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L, Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European journal of human genetics : EJHG, 2021 Sep;29(9):1405-1417 | 2021 |
| Hobbs CV, Martin LM, Kim SS, Kirmse B, et al Factors Associated with Positive SARS-CoV-2 Test Results in Outpatient Health Facilities and Emergency Departments Among Children and Adolescents Aged <18 Years - Mississippi, September-November 2020 MMWR Morb Mortal Wkly Rep 2020;69:1925-9. | 2020 |
| Bradbury RS, Arguello I, Lane M, Cooley G, Handali S, Dimitrova SD, Kirmse B, et. al Parasitic Infection Surveillance in Mississippi Delta Children American Journal Tropical Medical Hygene | 2020 |
| Feldstein LR, Rose EB, Horwitz SM, Collins JP, Newhams MM, Son MBF, et al. Multisystem Inflammatory Syndrome in U.S. Children and Adolescents New England Journal of Medicine | 2020 |
| Hobbs CV, Martin LM, Kim SS, Kirmse BM, Haynie L, McGraw S, Byers P, Taylor KG, Patel MM, Flannery B, CDC COVID-19 Response Team, Factors Associated with Positive SARS-CoV-2 Test Results in Outpatient Health Facilities and Emergency Departments Among Children and Adolescents Aged <18 Years - Mississippi, September-November 2020. MMWR. Morbidity and mortality weekly report, 2020 Dec 18;69(50):1925-1929 | 2020 |
| Feldstein LR, Rose EB, Horwitz SM, Collins JP, Newhams MM, Son MBF, Newburger JW, Kleinman LC, Heidemann SM, Martin AA, Singh AR, Li S, Tarquinio KM, Jaggi P, Oster ME, Zackai SP, Gillen J, Ratner AJ, Walsh RF, Fitzgerald JC, Keenaghan MA, Alharash H, Doymaz S, Clouser KN, Giuliano JS Jr, Gupta A, Parker RM, Maddux AB, Havalad V, Ramsingh S, Bukulmez H, Bradford TT, Smith LS, Tenforde MW, Carroll CL, Riggs BJ, Gertz SJ, Daube A, Lansell A, Coronado Munoz A, Hobbs CV, Marohn KL, Halasa NB, Patel MM, Randolph AG, Overcoming COVID-19 Investigators, CDC COVID-19 Response Team, Multisystem Inflammatory Syndrome in U.S. Children and Adolescents. The New England journal of medicine, 2020 Jul 23;383(4):334-346 | 2020 |
| Bradbury RS, Arguello I, Lane M, Cooley G, Handali S, Dimitrova SD, Nascimento FS, Jameson S, Hellmann K, Tharp M, Byers P, Montgomery SP, Haynie L, Kirmse B, Pilotte N, Williams SA, Hobbs CV, Parasitic Infection Surveillance in Mississippi Delta Children. The American journal of tropical medicine and hygiene, 2020 Sep;103(3):1150-1153 | 2020 |
| Inagaki K, Kirmse B, Bradbury RS, Moorthy RS, Arguello I, McGuffey CD, Tieu B, Hobbs CV, Case Report: Ocular Toxocariasis: A Report of Three Cases from the Mississippi Delta. The American journal of tropical medicine and hygiene, 2019 May;100(5):1223-1226 | 2019 |
| Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J, A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human molecular genetics, 2019 Feb 15;28(4):598-614 | 2019 |
| Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA, Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Molecular genetics and metabolism, 2018 Mar;123(3):337-346 | 2018 |
| Hobbs CV, Gabriel EE, Kamthunzi P, Tegha G, Tauzie J, Li Y, Ilmet T, Artimovich E, Neal J, Hall T, Parikh S, Kirmse B, Jean-Philippe P, Chen J, Prescott WR, Palumbo P, Duffy PE, Borkowsky W, For The P S Study Team, Prevalence of Asymptomatic Parasitemia and Gametocytemia in HIV-Infected Children on Differing Antiretroviral Therapy. The American journal of tropical medicine and hygiene, 2018 Jan;98(1):67-70 | 2018 |
| Jao J, Powis KM, Kirmse B, Yu C, Epie F, Nshom E, Abrams EJ, Sperling RS, Leroith D, Geffner ME, Kurland IJ, Côté HCF, Lower mitochondrial DNA and altered mitochondrial fuel metabolism in HIV-exposed uninfected infants in Cameroon. AIDS (London, England), 2017 Nov 28;31(18):2475-2481 | 2017 |
| Kirmse B, Cabrerra-Luque J, Ayyub O, Cusmano K, Chapman K, Summar M, Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism. Molecular genetics and metabolism reports, 2017 Dec;13:52-54 | 2017 |
| Kirmse B, Yao TJ, Hofherr S, Kacanek D, Williams PL, Hobbs CV, Hazra R, Borkowsky W, Van Dyke RB, Summar M, Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States. AIDS research and human retroviruses, 2016 Apr;32(4):339-48 | 2016 |
| McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF, Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). Genetics in medicine : official journal of the American College of Medical Genetics, 2016 Jan;18(1):34-40 | 2016 |
| Viall S, Jain S, Chapman K, Ah Mew N, Summar M, Kirmse B, Members of the Division of Genetics & Metabolism at Children's National Health System, Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Molecular genetics and metabolism, 2015 Dec;116(4):226-30 | 2015 |
| Mew NA, Viall S, Kirmse B, Chapman KA, Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate. Advances in neonatal care : official journal of the National Association of Neonatal Nurses, 2015 Aug;15(4):241-7; quiz E1-2 | 2015 |
| Jao J, Kirmse B, Yu C, Qiu Y, Powis K, Nshom E, Epie F, Tih PM, Sperling RS, Abrams EJ, Geffner ME, LeRoith D, Kurland IJ, Lower Preprandial Insulin and Altered Fuel Use in HIV/Antiretroviral-Exposed Infants in Cameroon. The Journal of clinical endocrinology and metabolism, 2015 Sep;100(9):3260-9 | 2015 |
| Kirmse B, Baumgart S, Rakhmanina N, Metabolic and mitochondrial effects of antiretroviral drug exposure in pregnancy and postpartum: implications for fetal and future health. Seminars in fetal & neonatal medicine, 2013 Feb;18(1):48-55 | 2013 |
| Kirmse B, Hobbs CV, Peter I, Laplante B, Caggana M, Kloke K, Raymond K, Summar M, Borkowsky W, Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants. The Pediatric infectious disease journal, 2013 Feb;32(2):146-50 | 2013 |
| Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P, Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. Journal of inherited metabolic disease, 2012 Nov;35(6):1119-28 | 2012 |
| Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA, Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Molecular genetics and metabolism, 2010 Feb;99(2):116-23 | 2010 |
| Profitlich L, Kirmse B, Wasserstein MP, Diaz G, Srivastava S, Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report. Cases journal, 2009 Jul 30;2:8603 | 2009 |
| Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S, High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Molecular genetics and metabolism, 2009 Dec;98(4):344-8 | 2009 |
| Hobbs CV, Voza T, Coppi A, Kirmse B, Marsh K, Borkowsky W, Sinnis P, HIV protease inhibitors inhibit the development of preerythrocytic-stage plasmodium parasites. The Journal of infectious diseases, 2009 Jan 1;199(1):134-41 | 2009 |
| Hobbs CV, Gabriel EE, Kamthunzi P, Tegha G, Tauzie J, Petzold E, Barlow-Mosha L, Chi BH, Li Y, Ilmet T, Kirmse B, Neal J, Parikh S, Deygoo N, Jean Philippe P, Mofenson L, Prescott W, Chen J, Musoke P, Palumbo P, Duffy PE, Borkowsky W, P1068s Study Team, Malaria in HIV-Infected Children Receiving HIV Protease-Inhibitor- Compared with Non-Nucleoside Reverse Transcriptase Inhibitor-Based Antiretroviral Therapy, IMPAACT P1068s, Substudy to P1060. PloS one, 2016;11(12):e0165140 | |
| Ferreira CR, Silber MH, Chang T, Murnick JG, Kirmse B, Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS. JIMD reports, 2016;28:69-74 | |
| De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B, Severe neonatal holocarboxylase synthetase deficiency in west african siblings. JIMD reports, 2015;20:1-4 | |
| Kruszka PS, Kirmse B, Zand DJ, Cusmano-Ozog K, Spector E, Van Hove JL, Chapman KA, Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Molecular genetics and metabolism reports, 2014;1:237-240 | |
| Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B, European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml, Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/, The incidence of urea cycle disorders. Molecular genetics and metabolism, 2013 Sep-Oct;110(1-2):179-80 | |
| Hobbs CV, Khaitan A, Kirmse BM, Borkowsky W, COVID-19 in Children: A Review and Parallels to Other Hyperinflammatory Syndromes. Frontiers in pediatrics, 2020;8:593455 | |
Editorial |
| Summar M, Kirmse B, Monaco J, Mind the gap. Molecular genetics and metabolism, 2014 Sep-Oct;113(1-2):1 | |
