| The incidence of urea cycle disorders ML Summar, S Koelker, D Freedenberg, C Le Mons, J Haberle, HS Lee, ... Molecular genetics and metabolism 110 (1-2), 179-180, 2013 | 316 | 2013 |
| Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte JD Weisfeld-Adams, MA Morrissey, BM Kirmse, BR Salveson, ... Molecular genetics and metabolism 99 (2), 116-123, 2010 | 130 | 2010 |
| Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia C Michot, L Hubert, NB Romero, A Gouda, A Mamoune, S Mathew, E Kirk, ... Journal of inherited metabolic disease 35, 1119-1128, 2012 | 109 | 2012 |
| Factors Associated with Positive SARS-CoV-2 Test Results in Outpatient Health Facilities and Emergency Departments Among Children and Adolescents Aged 18 Years—Mississippi … CV Hobbs MMWR. Morbidity and Mortality Weekly Report 69, 2020 | 97 | 2020 |
| High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria LE Profitlich, B Kirmse, MP Wasserstein, GA Diaz, S Srivastava Molecular genetics and metabolism 98 (4), 344-348, 2009 | 77 | 2009 |
| HIV Protease Inhibitors Inhibit the Development of Preerythrocytic-Stage Plasmodium Parasites CV Hobbs, T Voza, A Coppi, B Kirmse, K Marsh, W Borkowsky, P Sinnis The Journal of infectious diseases 199 (1), 134-141, 2009 | 70 | 2009 |
| 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 … MM McGovern, MP Wasserstein, B Kirmse, WL Duvall, T Schiano, ... Genetics in Medicine 18 (1), 34-40, 2016 | 59 | 2016 |
| 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 … CV Hobbs, LM Martin, SS Kim, BM Kirmse, L Haynie, S McGraw, P Byers, ... MMWR Morb Mortal Wkly Rep 69 (50), 1925-1929, 2020 | 38 | 2020 |
| Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement R Ahrens-Nicklas, L Schlotawa, A Ballabio, N Brunetti-Pierri, M De Castro, ... Molecular genetics and metabolism 123 (3), 337-346, 2018 | 38 | 2018 |
| Lower mitochondrial DNA and altered mitochondrial fuel metabolism in HIV-exposed uninfected infants in Cameroon J Jao, KM Powis, B Kirmse, C Yu, F Epie, E Nshom, EJ Abrams, ... Aids 31 (18), 2475-2481, 2017 | 35 | 2017 |
| A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation W Khayat, A Hackett, M Shaw, A Ilie, T Dudding-Byth, VM Kalscheuer, ... Human molecular genetics 28 (4), 598-614, 2019 | 31 | 2019 |
| Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 2558, 2021 | 29 | 2021 |
| Genome sequencing as a first-line diagnostic test for hospitalized infants KM Bowling, ML Thompson, CR Finnila, SM Hiatt, DR Latner, MD Amaral, ... Genetics in Medicine 24 (4), 851-861, 2022 | 27 | 2022 |
| Lower preprandial insulin and altered fuel use in HIV/antiretroviral-exposed infants in Cameroon J Jao, B Kirmse, C Yu, Y Qiu, K Powis, E Nshom, F Epie, PM Tih, ... The Journal of Clinical Endocrinology & Metabolism 100 (9), 3260-3269, 2015 | 27 | 2015 |
| European registry and network for intoxication type metabolic diseases (E-IMD) ML Summar, S Koelker, D Freedenberg, C Le Mons, J Haberle, HS Lee, ... Electronic address: http://www. e-imd. org/en/index. phtml. Members of the …, 2013 | 27 | 2013 |
| COVID-19 in children: a review and parallels to other hyperinflammatory syndromes CV Hobbs, A Khaitan, BM Kirmse, W Borkowsky Frontiers in Pediatrics 8, 593455, 2020 | 26 | 2020 |
| TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila LD Goodman, H Cope, Z Nil, TA Ravenscroft, WL Charng, S Lu, AC Tien, ... The American Journal of Human Genetics 108 (9), 1669-1691, 2021 | 23 | 2021 |
| Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants B Kirmse, CV Hobbs, I Peter, B LaPlante, M Caggana, K Kloke, ... The Pediatric infectious disease journal 32 (2), 146-150, 2013 | 22 | 2013 |
| Case report: ocular toxocariasis: a report of three cases from the Mississippi Delta K Inagaki, B Kirmse, RS Bradbury, RS Moorthy, I Arguello, CD McGuffey, ... The American Journal of Tropical Medicine and Hygiene 100 (5), 1223, 2019 | 17 | 2019 |
| Acylcarnitine profiles in HIV-exposed, uninfected neonates in the United States B Kirmse, TJ Yao, S Hofherr, D Kacanek, PL Williams, CV Hobbs, R Hazra, ... AIDS Research and Human Retroviruses 32 (4), 339-348, 2016 | 15 | 2016 |
