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LINDSAY BURRAGE

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    R01DK126786     (BURRAGE, LINDSAY C)Feb 15, 2021 - Jan 31, 2026
    NIH
    DISSECTING THE LINK BETWEEN UREAGENESIS AND HEPATIC GLYCOGEN METABOLISM
    Role: Principal Investigator
    U54OD030165     (BURRAGE, LINDSAY C;HEANEY, JASON D ;MILOSAVLJEVIC, ALEKSANDAR)Sep 15, 2020 - Aug 31, 2025
    NIH
    BCM Center for Precision Medicine Models
    Role: Co-Principal Investigator
    R03DK119636     (BURRAGE, LINDSAY C)Apr 1, 2019 - Mar 31, 2021
    NIH
    Dysregulation of Hepatic Energy Metabolism in Argininosuccinate Lyase Deficiency
    Role: Principal Investigator
    K08DK106453     (BURRAGE, LINDSAY C)Sep 15, 2015 - Jul 31, 2020
    NIH
    Disordered Energy Metabolism in Argininosuccinate Lyase Deficiency
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 Apr 03. PMID: 38593811.
      Citations:    
    2. Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Mart?nez-Monseny AF, Palau F, Liu P, Adams D, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Hum Genet. 2024 Mar 07. PMID: 38451290.
      Citations:    Fields:    
    3. Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ, Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09. PMID: 38260438; PMCID: PMC10802640.
      Citations:    
    4. Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kort?m F, Herget T, Bierhals T, Condell A, Zeev BB, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, M?ller RS, T?mer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2023 Dec 01. PMID: 38038360.
      Citations:    Fields:    
    5. Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K, Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH, Nonet ML. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005. PMID: 37934770; PMCID: PMC10656020.
      Citations:    Fields:    Translation:HumansAnimalsCells
    6. Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Undiagnosed Diseases Network, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan; 194(1):17-30. PMID: 37743782.
      Citations:    Fields:    Translation:Humans
    7. Glinton KE, Minard CG, Liu N, Sun Q, Elsea SH, Burrage LC, Nagamani SCS. Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn. Mol Genet Metab. 2023 11; 140(3):107699. PMID: 37717413.
      Citations:    Fields:    Translation:Humans
    8. Kho J, Polak U, Jiang MM, Odom JD, Hunter JV, Ali SM, Burrage LC, Nagamani SC, Pautler RG, Thompson HP, Urayama A, Jin Z, Lee B. Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression. JCI Insight. 2023 09 08; 8(17). PMID: 37490345; PMCID: PMC10544197.
      Citations:    Fields:    Translation:HumansAnimalsCells
    9. Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Members of the Urea Cycle Disorders Consortium, Burrage LC, Nagamani SCS. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 11; 140(3):107696. PMID: 37690181; PMCID: PMC10866211.
      Citations:    Fields:    Translation:Humans
    10. Stroup BM, Li X, Ho S, Zhouyao H, Chen Y, Ani S, Dawson B, Jin Z, Marom R, Jiang MM, Lorenzo I, Rosen D, Lanza D, Aceves N, Koh S, Seavitt JR, Heaney JD, Lee B, Burrage LC. Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance. Dis Model Mech. 2023 08 01; 16(8). PMID: 37486182; PMCID: PMC10445726.
      Citations:    Fields:    Translation:Animals
    11. Desbois M, Undiagnosed Diseases Network, Towner S, Wilson WG, Zarate YA, Christensen EL, Opperman KJ, Zheng N, Grill B, AlAbdi L, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC, Billie Au PY, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Giles AC, Helaby R, Kania A, Alkuraya FS. Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 04 19; 146(4):1373-1387. PMID: 36200388; PMCID: PMC10319777.
      Citations: 3     Fields:    Translation:HumansAnimals
    12. Pe?a LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD, ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 06; 25(6):100831. PMID: 37031408.
      Citations:    Fields:    Translation:Humans
    13. Akula SK, Marciano JH, Lim Y, Exposito-Alonso D, Hylton NK, Hwang GH, Neil JE, Dominado N, Bunton-Stasyshyn RK, Song JHT, Talukdar M, Schmid A, Teboul L, Mo A, Shin T, Finander B, Beck SG, Yeh RC, Otani A, Qian X, DeGennaro EM, Alkuraya FS, Maddirevula S, Cascino GD, Giannini C, Undiagnosed Diseases Network, Burrage LC, Rosenfield JA, Ketkar S, Clark GD, Bacino C, Lewis RA, Segal RA, Bazan JF, Smith KA, Golden JA, Cho G, Walsh CA. TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4):e2209964120. PMID: 36669111; PMCID: PMC9942790.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    14. Sen K, Burrage LC, Chapman KA, Ginevic I, Mazariegos GV, Graham BH, ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100337. PMID: 36534118.
      Citations: 1     Fields:    Translation:Humans
    15. Ketkar S, Burrage LC, Lee B. RNA Sequencing as a Diagnostic Tool. JAMA. 2022 Dec 16. PMID: 36525251.
      Citations: 1     Fields:    
    16. Dai H, Zhu W, Yuan B, Walley N, Schoch K, Jiang YH, Phillips JA, Jones MS, Liu P, Murdock DR, Burrage LC, Lee B, Rosenfeld JA, Xiao R, Undiagnosed Diseases Network. A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 12; 43(12):1816-1823. PMID: 36317458; PMCID: PMC9772143.
      Citations:    Fields:    
    17. Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC, Undiagnosed Diseases Network. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524. PMID: 35934918; PMCID: PMC9669137.
      Citations:    
    18. Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A. Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data. Sci Rep. 2022 04 21; 12(1):6556. PMID: 35449147; PMCID: PMC9023513.
      Citations:    Fields:    Translation:Humans
    19. Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Undiagnosed Diseases Network, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203. PMID: 35396900; PMCID: PMC9197987.
      Citations:    Fields:    Translation:Humans
    20. Ames EG, Powell C, Engen RM, Weaver DJ, Mansuri A, Rheault MN, Sanderson K, Lichter-Konecki U, Daga A, Burrage LC, Ahmad A, Wenderfer SE, Luckritz KE. Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism. J Pediatr. 2022 07; 246:116-122.e1. PMID: 35358588; PMCID: PMC9233075.
      Citations:    Fields:    Translation:Humans
    21. Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Schedl T, Pak SC. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 05; 136(1):65-73. PMID: 35361529; PMCID: PMC10200280.
      Citations:    Fields:    Translation:HumansAnimals
    22. Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874. PMID: 35194938.
      Citations:    Fields:    Translation:Humans
    23. Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA, Undiagnosed Diseases Network, Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 02 08; 119(6). PMID: 35121658; PMCID: PMC8832968.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    24. Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Undiagnosed Diseases Network, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A, Moldovan O. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Mol Autism. 2021 10 26; 12(1):69. PMID: 34702355; PMCID: PMC8547031.
      Citations:    Fields:    Translation:Humans
    25. Burrage LC, Heinle JS, Cerfolio RH, Guillerman RP, Patel KR, Santiago NC, Hoover WC, Mallory GB. Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations. Pediatr Pulmonol. 2022 01; 57(1):224-230. PMID: 34882997.
      Citations:    Fields:    Translation:HumansCells
    26. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bjorgo K, Blanc X, Bolkier Y, Burrage LC, Granadillo JL, Dickson P, Donald KA, Eliyahu A, Emrick L, Engleman K, Good JM, Kalser J, Kloeckner C, Lachmeijer G, O'Heir E, Ortiz-Gonzalez X, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V, Bilan F, Van Bogaert P, Christ BU, Dubourg C, Gonfiantini MV, Macchiaiolo M, Nicita F, Odent S, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Vincent M. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23(10):2016. PMID: 34522029.
      Citations:    Fields:    
    27. Marom R, Burrage LC, Venditti R, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B, Cl?ment A, Blanco-S?nchez B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724. PMID: 34450031; PMCID: PMC8456174.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    28. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bjorgo K, Blanc X, Bolkier Y, Burrage LC, Granadillo JL, Dickson P, Donald KA, Eliyahu A, Emrick L, Engleman K, Good JM, Kalser J, Kloeckner C, Lachmeijer G, O'Heir E, Ortiz-Gonzalez X, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V, Bilan F, Van Bogaert P, Christ BU, Dubourg C, Gonfiantini MV, Macchiaiolo M, Nicita F, Odent S, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Vincent M. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 10; 23(10):1922-1932. PMID: 34163037; PMCID: PMC8488020.
      Citations: 2     Fields:    Translation:Humans
    29. Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V, Rauch A, Joset P, Steindl K. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109. PMID: 34041744; PMCID: PMC9189716.
      Citations: 6     Fields:    Translation:Humans
    30. Coban-Akdemir Z, Yuan B, Gibbs RA, Burrage LC, Lupski JR, Chinn IK, Vogel TP, Orange JS, Contreras JL, Ladino MA, Ar?nguiz K, Mendez GP, Poli MC. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr. 2021; 9:673957. PMID: 34095032; PMCID: PMC8172984.
      Citations: 3     
    31. Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324. PMID: 33949769; PMCID: PMC8562426.
      Citations:    Fields:    Translation:Humans
    32. Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE, Lee BH, Rosmaninho-Salgado J, Almeida PM, S? J. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045. PMID: 33847457.
      Citations: 2     Fields:    Translation:Humans
    33. Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 06; 133(2):148-156. PMID: 33846069; PMCID: PMC8195846.
      Citations: 1     Fields:    Translation:HumansCTClinical Trials
    34. Jin Z, Kho J, Dawson B, Jiang MM, Chen Y, Ali S, Burrage LC, Grover M, Palmer DJ, Turner DL, Ng P, Nagamani SC, Lee B. Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation. J Clin Invest. 2021 03 01; 131(5). PMID: 33373331; PMCID: PMC7919726.
      Citations: 4     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    35. Kumar RD, Burrage LC, Bartos J, Ali S, Schmitt E, Nagamani SCS, LeMons C. A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing. Mol Genet Metab Rep. 2021 Mar; 26:100706. PMID: 33489762; PMCID: PMC7809430.
      Citations: 2     
    36. Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Undiagnosed Diseases Network, Lee B, M?ller MF, Y?pez VA. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1). PMID: 33001864; PMCID: PMC7773386.
      Citations: 14     Fields:    Translation:HumansCellsCTClinical Trials
    37. Stroup BM, Marom R, Li X, Hsu CW, Chang CY, Truong LD, Dawson B, Grafe I, Chen Y, Jiang MM, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, Christiansen AE, Seavitt JR, Dickinson ME, Kheradmand F, Heaney JD, Lee B, Burrage LC. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Hum Mol Genet. 2020 08 03; 29(13):2171-2184. PMID: 32504080; PMCID: PMC7399531.
      Citations: 4     Fields:    Translation:HumansAnimals
    38. Cope H, Spillmann R, Rosenfeld JA, Brokamp E, Signer R, Schoch K, Kelley EG, Sullivan JA, Macnamara E, Lincoln S, Golden-Grant K, Undiagnosed Diseases Network, Orengo JP, Clark G, Burrage LC, Posey JE, Punetha J, Robertson A, Cogan J, Phillips JA, Martinez-Agosto J, Shashi V. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med. 2020 10; 8(10):e1397. PMID: 32730690; PMCID: PMC7549585.
      Citations: 4     Fields:    Translation:Humans
    39. Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Luxman Maglorius Renkilaraj MR, Seeleuthner Y, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Vogel TP, Network UD, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Amourette J, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A, B?ziat V, Migaud M, Rosain J, Avettand-Fenoel V, Ouach?e-Chardin M, Lebras MN, Gauvain C, Catherinot ?. Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(7). PMID: 32516385; PMCID: PMC7336304.
      Citations: 2     Fields:    
    40. Tavernier SJ, Chen YH, Ma CS, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Vogel TP, Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Amourette J, Ikinciogullari A, Beyaert R, Milner JD, Grimbacher B, Butte MJ, Freeman AF, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, B?ziat V, Materna M, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Avettand-Fenoel V, Ouach?e-Chardin M, Lebras MN, Gauvain C, Tcherakian C, Abel L, Couderc LJ, Catherinot ?, Casanova JL, Puel A. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6). PMID: 32207811; PMCID: PMC7971136.
      Citations: 21     Fields:    Translation:HumansCells
    41. Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725. PMID: 32330417; PMCID: PMC7212481.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    42. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT, K?ry S. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074; PMCID: PMC7118694.
      Citations: 15     Fields:    Translation:Humans
    43. Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6. PMID: 32169171; PMCID: PMC7289150.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    44. Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M, Members of the Urea Cycle Disorders Consortium (UCDC), Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. JCI Insight. 2020 02 27; 5(4). PMID: 31990680; PMCID: PMC7101134.
      Citations: 2     Fields:    Translation:HumansAnimals
    45. Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443. PMID: 31757659; PMCID: PMC6898966.
      Citations: 9     Fields:    Translation:Humans
    46. Sliepka JM, McGriff SC, Rossetti LZ, Bizargity P, Streff H, Lee YS, Dai H, Polubothu S, Lee G, Ren V, Hunter JV, Curry DJ, Scaglia F, Adesina AM, Ali I, Kinsler V, Burrage LC, Marafi D. GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. Neurol Genet. 2019 Dec; 5(6):e366. PMID: 31872050; PMCID: PMC6878837.
      Citations: 1     
    47. Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Seminara J, Garbade SF, Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metaboli, Garcia-Cazorla A, K?lker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128. PMID: 31018246; PMCID: PMC6692656.
      Citations: 16     Fields:    Translation:HumansPHPublic Health
    48. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J, Burrage LC, Seaver LH, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, Van Maldergem L. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 03 25; 11(1):16. PMID: 30909959; PMCID: PMC6434874.
      Citations:    Fields:    
    49. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, Van Maldergem L. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12. PMID: 30819258; PMCID: PMC6393995.
      Citations: 10     Fields:    Translation:Humans
    50. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B, Huber C, Cormier-Daire V, Bertola D, Yamamoto GL, Baratela WAR. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438. PMID: 30773277; PMCID: PMC6408318.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    51. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC,, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986. PMID: 30670878; PMCID: PMC6650380.
      Citations: 16     Fields:    Translation:Humans
    52. Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Genet Med. 2019 01; 21(1):262-265. PMID: 30097611.
      Citations: 3     Fields:    
    53. Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656. PMID: 30568308; PMCID: PMC6586530.
      Citations: 1     Fields:    Translation:HumansCells
    54. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037. PMID: 30503518; PMCID: PMC6288200.
      Citations: 6     Fields:    Translation:HumansCells
    55. Pillai NR, Marafi D, Monteiro SA, Parnes M, Chandy BM, Patel A, Bacino CA, Breman AM, Burrage LC. Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. Eur J Med Genet. 2019 Jun; 62(6):103531. PMID: 30142436.
      Citations:    Fields:    Translation:HumansCells
    56. Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287. PMID: 30075114; PMCID: PMC6080833.
      Citations: 6     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    57. Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM, Undiagnosed Diseases Network, Dhar SU. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet. 2018 Aug; 4(4):e248. PMID: 30046660; PMCID: PMC6055357.
      Citations: 4     
    58. Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D, De Le?-Crutchlow DD. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242. PMID: 29907798; PMCID: PMC7597849.
      Citations: 16     Fields:    Translation:Humans
    59. Jin Z, Burrage LC, Jiang MM, Lee YC, Bertin T, Chen Y, Tran A, Gibbs RA, Jhangiani S, Sutton VR, Rauch F, Lee B, Jain M. Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. JBMR Plus. 2018 Jul; 2(4):235-239. PMID: 30283904; PMCID: PMC6124173.
      Citations: 2     
    60. Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2019 01; 44:58-64. PMID: 29307858; PMCID: PMC10201920.
      Citations: 5     Fields:    Translation:Humans
    61. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083; PMCID: PMC6359927.
      Citations: 130     Fields:    Translation:Humans
    62. Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct; 173(10):2789-2794. PMID: 28815944; PMCID: PMC5603416.
      Citations: 1     Fields:    Translation:Humans
    63. Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371. PMID: 28649782; PMCID: PMC5599325.
      Citations: 14     Fields:    Translation:HumansCells
    64. Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH. Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66. PMID: 28693988; PMCID: PMC5612879.
      Citations: 10     Fields:    Translation:HumansPHPublic Health
    65. Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB. Lung Transplantation for FLNA-Associated Progressive Lung Disease. J Pediatr. 2017 07; 186:118-123.e6. PMID: 28457522; PMCID: PMC5534178.
      Citations: 8     Fields:    Translation:HumansCells
    66. Santiago-Sim T, Burrage LC, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Nagakura H, Immken LL, Littlejohn RO, Roeder E, EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Heaney JD, Walkiewicz MA, Ebstein F, Lehmann A, Cogn? B, K?ry S, Besnard T, Isidor B, B?zieau S, Hazart I, Kloetzel PM. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688. PMID: 28343629; PMCID: PMC5384096.
      Citations: 27     Fields:    Translation:HumansAnimals
    67. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, McElreavey K, Achermann JC, Lagos CF. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 12 01; 25(23):5286. PMID: 28031288; PMCID: PMC5886042.
      Citations: 8     Fields:    
    68. Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar; 173(3):733-739. PMID: 27888646; PMCID: PMC5315610.
      Citations: 2     Fields:    Translation:Humans
    69. Eldomery MK, Akdemir ZC, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR, V?gtle FN. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106. PMID: 27799064; PMCID: PMC5088683.
      Citations: 19     Fields:    Translation:HumansCells
    70. Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LAD, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2016 09; 39(5):757. PMID: 27225280; PMCID: PMC6830037.
      Citations: 1     Fields:    
    71. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, McElreavey K, Achermann JC, Lagos CF. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 08 15; 25(16):3446-3453. PMID: 27378692; PMCID: PMC5179941.
      Citations: 28     Fields:    Translation:Humans
    72. Atwal PS, Medina CR, Burrage LC, Sutton VR. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet. 2016 Jul; 61(7):669-72. PMID: 26984560; PMCID: PMC4961564.
      Citations: 2     Fields:    Translation:HumansCells
    73. Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13. PMID: 26637980; PMCID: PMC4678788.
      Citations: 32     Fields:    Translation:HumansCells
    74. Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2. PMID: 26602010; PMCID: PMC4729603.
      Citations: 11     Fields:    Translation:Humans
    75. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Members of Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27. PMID: 26358771; PMCID: PMC5007608.
      Citations: 15     Fields:    Translation:HumansAnimals
    76. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45. PMID: 26385305; PMCID: PMC4790081.
      Citations: 26     Fields:    Translation:HumansPHPublic Health
    77. Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. Mol Genet Metab Rep. 2015 Sep 01; 4:89-91. PMID: 26366375; PMCID: PMC4563870.
      Citations: 2     
    78. Boyer SW, Barclay LJ, Burrage LC. Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. Nutr Clin Pract. 2015 Aug; 30(4):502-10. PMID: 26079521; PMCID: PMC4515158.
      Citations: 16     Fields:    Translation:Humans
    79. Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9. PMID: 25957469; PMCID: PMC4570285.
      Citations: 24     Fields:    Translation:Humans
    80. Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov; 38(6):1029-39. PMID: 25875217; PMCID: PMC4626538.
      Citations: 77     Fields:    Translation:HumansPHPublic Health
    81. Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14. PMID: 25846959; PMCID: PMC4449285.
      Citations: 3     Fields:    Translation:HumansCells
    82. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83. PMID: 25439098; PMCID: PMC4225583.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    83. Burrage LC, Jain M, Gandolfo L, Lee BH, Members of the Urea Cycle Disorders Consortium, Nagamani SC. Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):131-5. PMID: 25042691; PMCID: PMC4177960.
      Citations: 22     Fields:    Translation:Humans
    84. Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab. 2014 Nov; 113(3):207-12. PMID: 25037980; PMCID: PMC4253070.
      Citations: 28     Fields:    Translation:HumansCells
    85. Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Sep 15; 23(R1):R1-8. PMID: 24651065; PMCID: PMC4170715.
      Citations: 46     Fields:    Translation:HumansAnimals
    86. Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep. 2014; 1:176-183. PMID: 25419514; PMCID: PMC4235665.
      Citations: 10     
    87. Bandyopadhyay A, Burrage LC, Gonzalez BE. Pulmonary nodules in an immunocompetent child with cat scratch disease. Pediatr Infect Dis J. 2013 Dec; 32(12):1390-2. PMID: 24030347.
      Citations:    Fields:    Translation:HumansCells
    88. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, van den Ende J, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Golabi M, Blair E, Male A, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM, F?lix TM, Wisniewska M, Kayserili H, Repetto GM, Giuliano F, Wieczorek D. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58. PMID: 24291220; PMCID: PMC3895324.
      Citations: 51     Fields:    Translation:Humans
    89. Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH, Rom?n Corona-Rivera J. Yunis-Var?n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 02; 92(5):781-91. PMID: 23623387; PMCID: PMC3644641.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    90. Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80. PMID: 23448908; PMCID: PMC3673284.
      Citations: 2     Fields:    Translation:HumansCells
    91. Burrage LC, Eble TN, Hixson PM, Roney EK, Cheung SW, Franco LM. A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. Am J Med Genet A. 2013 Apr; 161A(4):841-4. PMID: 23444363; PMCID: PMC6868782.
      Citations: 8     Fields:    Translation:HumansCells
    92. Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2557-63. PMID: 22903639.
      Citations: 1     Fields:    Translation:HumansCells
    93. Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8. PMID: 22846370.
      Citations: 27     Fields:    Translation:Humans
    94. Yazbek SN, Buchner DA, Geisinger JM, Burrage LC, Spiezio SH, Zentner GE, Hsieh CW, Scacheri PC, Croniger CM, Nadeau JH. Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis. Genome Res. 2011 Jul; 21(7):1065-73. PMID: 21507882; PMCID: PMC3129249.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    95. Buchner DA, Yazbek SN, Solinas P, Burrage LC, Morgan MG, Hoppel CL, Nadeau JH. Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance. Obesity (Silver Spring). 2011 May; 19(5):917-24. PMID: 20885388; PMCID: PMC3749733.
      Citations: 21     Fields:    Translation:AnimalsCells
    96. Shao H, Sinasac DS, Burrage LC, Hodges CA, Supelak PJ, Palmert MR, Moreno C, Cowley AW, Jacob HJ, Nadeau JH. Analyzing complex traits with congenic strains. Mamm Genome. 2010 Jun; 21(5-6):276-86. PMID: 20524000; PMCID: PMC3805105.
      Citations: 38     Fields:    Translation:Animals
    97. Burrage LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A, Kulbokas EJ, Daly MJ, Lander ES, Broman KW, Nadeau JH. Genetic resistance to diet-induced obesity in chromosome substitution strains of mice. Mamm Genome. 2010 Apr; 21(3-4):115-29. PMID: 20127486; PMCID: PMC3831885.
      Citations: 19     Fields:    Translation:AnimalsCells
    98. Millward CA, Burrage LC, Shao H, Sinasac DS, Kawasoe JH, Hill-Baskin AE, Ernest SR, Gornicka A, Hsieh CW, Pisano S, Nadeau JH, Croniger CM. Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17. Mamm Genome. 2009 Feb; 20(2):71-82. PMID: 19137372; PMCID: PMC3831881.
      Citations: 29     Fields:    Translation:AnimalsCells
    99. Shao H, Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W, Courtland HW, Jepsen KJ, Kirby A, Kulbokas EJ, Daly MJ, Broman KW, Lander ES, Nadeau JH. Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis. Proc Natl Acad Sci U S A. 2008 Dec 16; 105(50):19910-4. PMID: 19066216; PMCID: PMC2604967.
      Citations: 144     Fields:    Translation:Animals
    100. Buchner DA, Burrage LC, Hill AE, Yazbek SN, O'Brien WE, Croniger CM, Nadeau JH. Resistance to diet-induced obesity in mice with a single substituted chromosome. Physiol Genomics. 2008 Sep 17; 35(1):116-22. PMID: 18628339; PMCID: PMC2536825.
      Citations: 22     Fields:    Translation:AnimalsCells
    101. Nathan BM, Hodges CA, Supelak PJ, Burrage LC, Nadeau JH, Palmert MR. A quantitative trait locus on chromosome 6 regulates the onset of puberty in mice. Endocrinology. 2006 Nov; 147(11):5132-8. PMID: 16873534.
      Citations: 16     Fields:    Translation:Animals
    102. Singer JB, Hill AE, Burrage LC, Olszens KR, Song J, Justice M, O'Brien WE, Conti DV, Witte JS, Lander ES, Nadeau JH. Genetic dissection of complex traits with chromosome substitution strains of mice. Science. 2004 Apr 16; 304(5669):445-8. PMID: 15031436.
      Citations: 147     Fields:    Translation:AnimalsCells
    103. Nadeau JH, Burrage LC, Restivo J, Pao YH, Churchill G, Hoit BD. Pleiotropy, homeostasis, and functional networks based on assays of cardiovascular traits in genetically randomized populations. Genome Res. 2003 Sep; 13(9):2082-91. PMID: 12952877; PMCID: PMC403692.
      Citations: 28     Fields:    Translation:Animals
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