InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6701 FANNIN
Houston, TX 77030
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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. Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372. PMID: 36751706.
      Citations:    Fields:    Translation:Humans
    2. Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J, Undiagnosed Diseases Network, Wang X, Miller MJ, Bi W, Liu P, Scaglia F. Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. Am J Med Genet A. 2023 03; 191(3):776-785. PMID: 36537114.
      Citations:    Fields:    Translation:Humans
    3. Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352. PMID: 36473599.
    4. Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schr?ter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, M?ller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, R?tig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2022 Oct 28. PMID: 36305855.
    5. Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 Sep; 188(9):2718-2723. PMID: 35796094; PMCID: PMC9378577.
      Citations:    Fields:    
    6. Almannai M, El-Hattab AW, Azamian MS, Ali M, Scaglia F. Mitochondrial DNA maintenance defects: potential therapeutic strategies. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):40-48. PMID: 35914366.
    7. Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Ferlini A, Gavrilova RH, Graham JM, Juusola J, Kant SG, Kayani S, Ketteler P, Koopmann TT, Kruisselbrink TM, Kuechler A, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, McLaughlin J, Murgia A, Narayanan V, Neuser S, Ognibene D, Platzer K, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Haack TB, Keren B, Kl?ckner C, Lambert L, Latypova X, Mignot C, Nava C, Nizon M, Park J, Poirsier C, Trentesaux AS. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62. PMID: 35698242; PMCID: PMC9195326.
      Citations:    Fields:    Translation:Humans
    8. Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40. PMID: 35231119.
      Citations:    Fields:    Translation:Humans
    9. Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, Cohen BH, Van Hove JLK, Scaglia F, Hoppel C, Rosales XQ, Barca E, Buchsbaum R, Thompson JL, DiMauro S, Hirano M, North American Mitochondrial Disease Consortium (NAMDC). Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022 06; 136(2):125-131. PMID: 35606253; PMCID: PMC9341219.
      Citations:    Fields:    Translation:Humans
    10. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110. PMID: 35637064; PMCID: PMC9893913.
      Citations:    Fields:    Translation:HumansAnimals
    11. Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, van Maanen R, McFarland R, Parikh S, Rahman S, Scaglia F, Sherman AV, Yeske P, Falk MJ. Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Adv Genet (Hoboken). 2022 Mar; 3(1). PMID: 35317023; PMCID: PMC8936395.
    12. Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268. PMID: 34510712.
      Citations:    Fields:    Translation:Humans
    13. Li X, Milosavljevic A, Elsea SH, Wang CC, Scaglia F, Syngelaki A, Nicolaides KH, Poon LC. Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation. Hypertension. 2021 11; 78(5):1398-1410. PMID: 34225470.
      Citations: 1     Fields:    Translation:Humans
    14. Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121. PMID: 34159722.
      Citations: 2     Fields:    Translation:Humans
    15. Scaglia F, Masquelin H, A?fa T, Basei MAS. Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of Uruguay. Data Brief. 2021 Aug; 37:107179. PMID: 34159238; PMCID: PMC8203724.
    16. Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F. Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852. PMID: 33900143.
      Citations:    Fields:    Translation:Humans
    17. Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153. PMID: 33485800; PMCID: PMC7903488.
      Citations: 2     Fields:    Translation:HumansCells
    18. Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F. Clinical trials in mitochondrial disorders, an update. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):1-13. PMID: 33129691; PMCID: PMC7537630.
      Citations: 12     Fields:    Translation:HumansCells
    19. Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787. PMID: 32909658.
      Citations: 1     Fields:    Translation:Humans
    20. Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431. PMID: 32804429; PMCID: PMC8543298.
      Citations: 2     Fields:    Translation:HumansCells
    21. Chong SC, Hon KL, Scaglia F, Chow CM, Fu YM, Chiu TW, Leung AKC. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. Case Rep Pediatr. 2020; 2020:4206348. PMID: 32351751; PMCID: PMC7183525.
    22. Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Shamsi AMSMA, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2020 Apr; 22(4):821. PMID: 31857706.
      Citations:    Fields:    
    23. Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64. PMID: 32173240; PMCID: PMC8399858.
      Citations: 12     Fields:    Translation:HumansCells
    24. Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet. 2020 Apr; 6(2):e402. PMID: 32337332; PMCID: PMC7164977.
      Citations: 14     
    25. Witters P, Tahata S, Barone R, Salvarinova R, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E, ?unap K, Gr?nborg S. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 06; 22(6):1102-1107. PMID: 32103184; PMCID: PMC7275909.
      Citations: 18     Fields:    Translation:HumansCells
    26. Zhu X, Ng HI, Xuan L, Long Y, Mao Y, Shi Y, Sun L, Liang B, Scaglia F, Zhu Z, Choy KW. Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism. Data Brief. 2020 Apr; 29:105183. PMID: 32071968; PMCID: PMC7013363.
    27. Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761. PMID: 31970900.
      Citations: 4     Fields:    Translation:Humans
    28. Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, Goldstein A, Karaa A, Koenig MK, Muraresku CC, Meyer C, O'Grady M, Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J. Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. Neurology. 2020 02 18; 94(7):e687-e698. PMID: 31896620; PMCID: PMC7176297.
      Citations: 15     Fields:    Translation:Humans
    29. 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
    30. 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     
    31. Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR. Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973. PMID: 31568715; PMCID: PMC6900359.
      Citations: 5     Fields:    Translation:HumansCells
    32. Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A. 2019 10; 179(10):2138-2143. PMID: 31290619.
      Citations: 5     Fields:    Translation:HumansCells
    33. Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764. PMID: 31263215; PMCID: PMC6895419.
      Citations: 7     Fields:    Translation:HumansAnimals
    34. Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480. PMID: 31216405; PMCID: PMC6934160.
      Citations: 63     Fields:    Translation:Humans
    35. Presslee S, Slater GJ, Fischer R, Molloy K, Mackie M, Olsen JV, Scaglia F, Southon J, Feranec R, Bloch J, Hajduk A, Martin FM, Greenwood A, Chait BT, Penkman K, Collins M, MacPhee RDE, Pujos F, Forasiepi AM, Kramarz A, Taglioretti M, Lezcano M, Lanata JL, Salas Gismondi R, Reguero M, de Muizon C. Palaeoproteomics resolves sloth relationships. Nat Ecol Evol. 2019 07; 3(7):1121-1130. PMID: 31171860.
      Citations: 11     Fields:    Translation:Animals
    36. Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 30850373; PMCID: PMC6549558.
      Citations: 11     Fields:    Translation:HumansCells
    37. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Haven J, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH, Hammer TB, H?ron D, Louren?o CM, Powis Z. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. PMID: 30817854; PMCID: PMC6661012.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    38. Ng HI, Zhu X, Xuan L, Long Y, Mao Y, Shi Y, Sun L, Liang B, Scaglia F, Choy KW, Zhu Z. Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism. Mol Genet Metab. 2019 05; 127(1):45-50. PMID: 31027872.
      Citations: 6     Fields:    Translation:Humans
    39. Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 06; 179(6):1015-1019. PMID: 30864297.
      Citations: 14     Fields:    Translation:Humans
    40. Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807. PMID: 30848071.
      Citations: 8     Fields:    Translation:Humans
    41. Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study. Glob Pediatr Health. 2019; 6:2333794X19830696. PMID: 30815516; PMCID: PMC6381434.
      Citations: 6     
    42. Soler-Alfonso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F. L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency. Mol Genet Metab Rep. 2019 Jun; 19:100453. PMID: 30740308; PMCID: PMC6355510.
      Citations: 4     
    43. 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
    44. Karolak JA, Deutsch G, Gambin T, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Denis-Musquer M, Joubert M, Martinovic J, Carles D, Devisme L, Chalabreysse L, Don M, Orsaria M, Missirian C, Sanlaville D, Pons L, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Stankiewicz P, Vincent M, Cogn? B, Pichon O, Besnard T, Petit F, Bache I, T?mer Z, B?n?teau C, Molin A, Andr? G, Bieth E, Chassaing N, Pasquier L, Secq V, Mortreux J, K?ry S, B?zieau S, Liet JM, Joram N, Bihou?e T, Isidor B, Le Caignec C. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228. PMID: 30639323; PMCID: PMC6369446.
      Citations: 28     Fields:    Translation:HumansCells
    45. El-Hattab AW, Suleiman J, Almannai M, Scaglia F. Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases. Mol Genet Metab. 2018 12; 125(4):315-321. PMID: 30361041.
      Citations: 41     Fields:    Translation:HumansAnimals
    46. Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Muzny DM, Hanchard N, Belmont JW, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P, Piard J, Van Maldergem L. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285. PMID: 30349862; PMCID: PMC6186933.
      Citations: 28     Fields:    
    47. Chong SC, Lo P, Chow CW, Yuen L, Chu WCW, Leung TY, Hui J, Scaglia F. Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong. Mol Genet Metab Rep. 2018 Dec; 17:3-8. PMID: 30181955; PMCID: PMC6120422.
      Citations: 7     
    48. Almannai M, El-Hattab AW, Scaglia F. Mitochondrial DNA replication: clinical syndromes. Essays Biochem. 2018 07 20; 62(3):297-308. PMID: 29950321.
      Citations: 11     Fields:    Translation:HumansCells
    49. Stowe RC, Sun Q, Elsea SH, Scaglia F. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189. PMID: 29681092.
      Citations: 6     Fields:    Translation:Humans
    50. Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ. The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28. PMID: 29529134.
      Citations: 3     Fields:    Translation:Humans
    51. Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Boddaert N, Cantagrel V, Lewis AM, Scaglia F, Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA, Rio M. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675. PMID: 29330883; PMCID: PMC5903952.
      Citations: 12     Fields:    Translation:Humans
    52. Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T, Gril S. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017 12 15; 26(24):4937-4950. PMID: 29040572; PMCID: PMC5886230.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    53. 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
    54. Hamdan FF, Myers CT, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Srour M, Bourque G, Berkovic SF, Sadleir LG, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Minassian BA, Cossette P, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Mau-Them FT, Bruel AL, Verloes A, ?unap K, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Jacques S, Boucher RM, Riou E, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Campeau PM, Kibar Z, Lafreni?re RG, Girard SL, Rossignol E, Michaud JL. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. PMID: 29100083; PMCID: PMC5673604.
      Citations: 110     Fields:    Translation:Humans
    55. Koenig R, Magoulas P, Scaglia F, Kilic E, Fauler B, Kalscheuer VM, Hennig F, Netzer C, Thiele H, Hecht J, Mielke T, Bacino CA, Bonnen PE, Ehmke N, Graul-Neumann L, Smorag L, Segebrecht L, Hennig AF, Adolphs N, Saha N, Altm?ller J, N?rnberg P, Yigit G, J?ger M, Kr?ger U, Krawitz PM, Horn D, Schuelke M, Mundlos S, Wollnik B, Fischer-Zirnsak B, Kornak U. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 02; 101(5):833-843. PMID: 29100093; PMCID: PMC5673623.
      Citations: 27     Fields:    Translation:HumansCells
    56. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. Response to Newman et al. Genet Med. 2017 12; 19(12). PMID: 29215644; PMCID: PMC7787267.
      Citations:    Fields:    
    57. El-Hattab AW, Zarante AM, Almannai M, Scaglia F. Therapies for mitochondrial diseases and current clinical trials. Mol Genet Metab. 2017 11; 122(3):1-9. PMID: 28943110; PMCID: PMC5773113.
      Citations: 64     Fields:    Translation:HumansAnimalsCells
    58. Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689. PMID: 28815871.
      Citations: 16     Fields:    Translation:Humans
    59. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12). PMID: 28749475; PMCID: PMC7804217.
      Citations: 69     Fields:    Translation:Humans
    60. 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
    61. Westbury M, Baleka S, Barlow A, Hartmann S, Paijmans JLA, Jones W, MacPhee RDE, Hofreiter M, Kramarz A, Forasiepi AM, Bond M, Gelfo JN, Reguero MA, L?pez-Mendoza P, Taglioretti M, Scaglia F, Rinderknecht A, Mena F, Billet G, de Muizon C, Aguilar JL. A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonica. Nat Commun. 2017 06 27; 8:15951. PMID: 28654082; PMCID: PMC5490259.
      Citations: 19     Fields:    Translation:Animals
    62. El-Hattab AW, Almannai M, Scaglia F. Arginine and citrulline for the treatment of MELAS syndrome. J Inborn Errors Metab Screen. 2017 Jan; 5. PMID: 28736735; PMCID: PMC5519148.
      Citations: 8     
    63. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR, Stray-Pedersen A, K?ry S, Mercier S. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26. PMID: 28327206; PMCID: PMC5361813.
      Citations: 90     Fields:    Translation:Humans
    64. El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555. PMID: 28215579.
      Citations: 82     Fields:    Translation:HumansAnimals
    65. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. PMID: 28132692; PMCID: PMC5294886.
      Citations: 20     Fields:    Translation:HumansCells
    66. Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W, DDD Study, CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104. PMID: 27939640; PMCID: PMC5223032.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    67. El-Hattab AW, Scaglia F. Mitochondrial Cardiomyopathies. Front Cardiovasc Med. 2016; 3:25. PMID: 27504452; PMCID: PMC4958622.
      Citations: 57     
    68. Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8. PMID: 27320698.
      Citations: 8     Fields:    Translation:Humans
    69. Koenig MK, Emrick L, Karaa A, Korson M, Scaglia F, Parikh S, Goldstein A. Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. JAMA Neurol. 2016 May 01; 73(5):591-4. PMID: 26954033.
      Citations: 29     Fields:    Translation:Humans
    70. Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184. PMID: 27312126.
      Citations: 18     Fields:    Translation:Humans
    71. El-Hattab AW, Scaglia F. Mitochondrial cytopathies. Cell Calcium. 2016 09; 60(3):199-206. PMID: 26996063.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    72. Chao YH, Robak LA, Xia F, Koenig MK, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MF. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56. PMID: 26931468; PMCID: PMC5007591.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    73. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016 Apr; 117(4):407-12. PMID: 26851065; PMCID: PMC4818739.
      Citations: 21     Fields:    Translation:Humans
    74. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57. PMID: 26805781; PMCID: PMC4746334.
      Citations: 35     Fields:    Translation:HumansCells
    75. Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab. 2016 Jan; 117(1):1-4. PMID: 26653176.
      Citations: 22     Fields:    Translation:Humans
    76. El-Hattab AW, Scaglia F. Disorders of carnitine biosynthesis and transport. Mol Genet Metab. 2015 Nov; 116(3):107-12. PMID: 26385306.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    77. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):4-12. PMID: 26095523.
      Citations: 144     Fields:    Translation:HumansCells
    78. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". Am J Med Genet A. 2015 Oct; 167A(10):2496. PMID: 26355286.
      Citations: 3     Fields:    
    79. Pena JA, Lotze T, Yang Y, Umana L, Walkiewicz M, Hunter JV, Scaglia F. Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. J Child Neurol. 2016 Feb; 31(2):215-9. PMID: 26060307.
      Citations: 4     Fields:    Translation:Humans
    80. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep; 167A(9):2162-7. PMID: 25943046.
      Citations: 15     Fields:    Translation:Humans
    81. Sarkar A, Emrick LT, Smith EM, Austin EG, Yang Y, Hunter JV, Scaglia F, Lalani SR. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. Am J Med Genet A. 2015 Apr; 167A(4):914-8. PMID: 25735261.
      Citations: 8     Fields:    Translation:Humans
    82. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701. PMID: 25503498; PMCID: PMC5000852.
      Citations: 133     Fields:    Translation:Humans
    83. Chanprasert S, Scaglia F. Adult liver disorders caused by inborn errors of metabolism: review and update. Mol Genet Metab. 2015 Jan; 114(1):1-10. PMID: 25467056.
      Citations: 5     Fields:    Translation:Humans
    84. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJ. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014 Sep; 18:63-9. PMID: 25086207; PMCID: PMC4252755.
      Citations: 16     Fields:    Translation:HumansCells
    85. 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
    86. El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar; 48:85-91. PMID: 24412347.
      Citations: 14     Fields:    Translation:HumansCells
    87. Moss T, Lewis RA, Austin EG, Kelfer H, Wang J, Wong LJ, Scaglia F, Granadillo JL. Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW. Mol Genet Metab Rep. 2014; 1:61-65. PMID: 25302159; PMCID: PMC4185924.
      Citations: 3     
    88. Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May; 37(3):461-73. PMID: 24305960.
      Citations: 15     Fields:    Translation:Humans
    89. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A, Ara?jo HC. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. PMID: 24268530.
      Citations: 26     Fields:    Translation:Humans
    90. El-Hattab AW, Emrick LT, Williamson KC, Craigen WJ, Scaglia F. The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene. 2013 Dec; 1:8-14. PMID: 25411654; PMCID: PMC4205025.
      Citations: 9     
    91. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, Clinical Director's Work Group. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion. 2013 Nov; 13(6):681-7. PMID: 24063850.
      Citations: 15     Fields:    Translation:Humans
    92. Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83. PMID: 23947751; PMCID: PMC3751849.
      Citations: 8     Fields:    Translation:Humans
    93. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. PMID: 23891656.
      Citations: 16     Fields:    Translation:Humans
    94. Chanprasert S, Wang J, Weng SW, Enns GM, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ, Bou? DR. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61. PMID: 23932787.
      Citations: 9     Fields:    Translation:Humans
    95. Diop-Bove N, Jain M, Scaglia F, Goldman ID. A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption. Gene. 2013 Sep 25; 527(2):673-4. PMID: 23816405; PMCID: PMC3836604.
      Citations: 9     Fields:    Translation:Humans
    96. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87. PMID: 23695279; PMCID: PMC3865406.
      Citations: 58     Fields:    Translation:Humans
    97. Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93. PMID: 23463613.
      Citations: 39     Fields:    Translation:HumansCells
    98. El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr; 10(2):186-98. PMID: 23385875; PMCID: PMC3625391.
      Citations: 107     Fields:    Translation:HumansCells
    99. El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab. 2012 Nov; 107(3):247-52. PMID: 22819233.
      Citations: 40     Fields:    Translation:HumansCells
    100. Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76. PMID: 22722545; PMCID: PMC3713627.
      Citations: 25     Fields:    Translation:HumansCells
    101. Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1891-6. PMID: 22711443.
      Citations: 16     Fields:    Translation:HumansCells
    102. Tavyev Asher YJ, Scaglia F. Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet. 2012 May; 55(5):299-306. PMID: 22548976.
      Citations: 15     Fields:    Translation:HumansAnimals
    103. Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12. PMID: 22405928.
      Citations: 8     Fields:    Translation:Humans
    104. El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14. PMID: 22325939; PMCID: PMC4093801.
      Citations: 52     Fields:    Translation:Humans
    105. Scaglia F. Nuclear gene defects in mitochondrial disorders. Methods Mol Biol. 2012; 837:17-34. PMID: 22215538.
      Citations: 3     Fields:    Translation:HumansCells
    106. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79. PMID: 21948486; PMCID: PMC3655525.
      Citations: 21     Fields:    Translation:HumansCells
    107. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W, Hern?ndez-Almaguer D. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
      Citations: 196     Fields:    Translation:HumansCells
    108. Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011 Jul; 155A(7):1597-604. PMID: 21671375; PMCID: PMC4995031.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    109. Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD. Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet A. 2011 Jul; 155A(7):1574-80. PMID: 21638761; PMCID: PMC3121908.
      Citations: 8     Fields:    Translation:Humans
    110. Kamdar KY, Krull KR, El-Zein RA, Brouwers P, Potter BS, Harris LL, Holm S, Dreyer Z, Scaglia F, Etzel CJ, Bondy M, Okcu MF. Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy. Pediatr Blood Cancer. 2011 Sep; 57(3):454-60. PMID: 21618410; PMCID: PMC3134130.
      Citations: 24     Fields:    Translation:Humans
    111. Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab. 2011 Aug; 103(4):383-7. PMID: 21636302.
      Citations: 39     Fields:    Translation:Humans
    112. Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun; 93(6):1248-54. PMID: 21490144; PMCID: PMC3095500.
      Citations: 4     Fields:    Translation:Humans
    113. Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 08; 88(4):402-21. PMID: 21473982; PMCID: PMC3071916.
      Citations: 19     Fields:    Translation:Humans
    114. Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Mol Genet Metab. 2011 Jul; 103(3):262-7. PMID: 21478040.
      Citations: 7     Fields:    Translation:Humans
    115. Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Adesina AM, Wong LJ, Scaglia F. Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 2011 Jun; 103(2):153-60. PMID: 21414825.
      Citations: 7     Fields:    Translation:Humans
    116. Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70. PMID: 21406331.
      Citations: 13     Fields:    Translation:Humans
    117. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6. PMID: 21150890; PMCID: PMC3061988.
      Citations: 39     Fields:    Translation:HumansCells
    118. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. PMID: 20848651; PMCID: PMC3158569.
      Citations: 122     Fields:    Translation:HumansCells
    119. El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86. PMID: 20860070.
      Citations: 21     Fields:    Translation:HumansCells
    120. Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug; 31(8):E1632-51. PMID: 20574985.
      Citations: 30     Fields:    Translation:HumansPHPublic Health
    121. Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):282-5. PMID: 20728387.
      Citations: 8     Fields:    Translation:HumansCells
    122. Wong LJ, Scaglia F, Graham BH, Craigen WJ. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab. 2010 Jun; 100(2):111-7. PMID: 20359921.
      Citations: 13     Fields:    Translation:HumansCells
    123. Scaglia F. New insights in nutritional management and amino acid supplementation in urea cycle disorders. Mol Genet Metab. 2010; 100 Suppl 1:S72-6. PMID: 20299258; PMCID: PMC4831209.
      Citations: 10     Fields:    Translation:Humans
    124. Scaglia F. The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev. 2010; 16(2):136-43. PMID: 20818728.
      Citations: 39     Fields:    Translation:Humans
    125. El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010 Jan; 12(1):19-24. PMID: 20027113.
      Citations: 40     Fields:    Translation:HumansPHPublic Health
    126. Cordeiro M, Scaglia F, Lopes Da Silva S, Garcia P, Grazina M, Moura C, Diogol L. The brain-heart connection in mitochondrial respiratory chain diseases. Neuroradiol J. 2009 Dec 14; 22(5):558-63. PMID: 24209401.
      Citations: 3     Fields:    
    127. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77. PMID: 19606479; PMCID: PMC2765374.
      Citations: 58     Fields:    Translation:HumansCells
    128. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33. PMID: 19584063.
      Citations: 43     Fields:    Translation:HumansCells
    129. Venkateswaran L, Scaglia F, McLin V, Hertel P, Shchelochkov OA, Karpen S, Mahoney D, Yee DL. Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. Pediatr Blood Cancer. 2009 Jul; 53(1):100-2. PMID: 19343772; PMCID: PMC4869977.
      Citations: 5     Fields:    Translation:Humans
    130. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602. PMID: 19557438; PMCID: PMC3669685.
      Citations: 34     Fields:    Translation:HumansCells
    131. Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F. The Xp contiguous deletion syndrome and autism. Am J Med Genet A. 2009 Jun; 149A(6):1138-48. PMID: 19441126.
      Citations: 11     Fields:    Translation:HumansCells
    132. Dhar SU, Robbins-Furman P, Levy ML, Patel A, Scaglia F. Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty. Am J Med Genet A. 2009 May; 149A(5):993-6. PMID: 19334087; PMCID: PMC3587162.
      Citations: 2     Fields:    Translation:HumansCells
    133. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71. PMID: 19029900; PMCID: PMC2680128.
      Citations: 247     Fields:    Translation:HumansCells
    134. Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Citrin deficiency, a perplexing global disorder. Mol Genet Metab. 2009 Jan; 96(1):44-9. PMID: 19036621.
      Citations: 35     Fields:    Translation:HumansCells
    135. Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab. 2009 Jan; 96(1):38-43. PMID: 19027335.
      Citations: 11     Fields:    Translation:Humans
    136. Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Wong LJ, Scaglia F, Mousson de Camaret B. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008 Oct; 14(10):1480-5. PMID: 18825706.
      Citations: 25     Fields:    Translation:Humans
    137. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug; 94(4):391-396. PMID: 18524657.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    138. Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem. 2008 Jul; 54(7):1141-8. PMID: 18487280.
      Citations: 28     Fields:    Translation:HumansCells
    139. Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol. 2008 Mar; 144(3):351-6. PMID: 18347291.
      Citations: 8     Fields:    Translation:Humans
    140. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1. PMID: 18205204.
      Citations: 43     Fields:    Translation:Humans
    141. Scaglia F, Wong LJ. Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve. 2008 Feb; 37(2):150-71. PMID: 17999409.
      Citations: 25     Fields:    Translation:Humans
    142. Brunetti-Pierri N, Bhattacharjee MB, Wang ZJ, Wenger DA, Potocki L, Hunter J, Scaglia F. Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol. 2008 Jan; 23(1):73-8. PMID: 18184943.
      Citations: 7     Fields:    Translation:HumansCells
    143. Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7. PMID: 18027081; PMCID: PMC4131536.
      Citations: 34     Fields:    Translation:Humans
    144. Calcaterra V, Klersy C, Muratori T, Telli S, Caramagna C, Scaglia F, Cisternino M, Larizza D. Prevalence of metabolic syndrome (MS) in children and adolescents with varying degrees of obesity. Clin Endocrinol (Oxf). 2008 Jun; 68(6):868-72. PMID: 17980007.
      Citations: 48     Fields:    Translation:Humans
    145. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38. PMID: 17850629.
      Citations: 16     Fields:    Translation:HumansCells
    146. Calcaterra V, Lanzarini L, Guerci B, Mancini L, Giovenale D, Scaglia F, Albanesi M, Larizza D. Pregnancy in a woman with Turner syndrome and celiac disease. J Endocrinol Invest. 2007 Jul-Aug; 30(7):598-600. PMID: 17848843.
      Citations: 1     Fields:    Translation:Humans
    147. Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar; 119(3):e773-7. PMID: 17332192.
      Citations: 27     Fields:    Translation:Humans
    148. Sano M, Izumi Y, Helenius K, Asakura M, Rossi DJ, Xie M, Taffet G, Hu L, Pautler RG, Wilson CR, Boudina S, Abel ED, Taegtmeyer H, Scaglia F, Graham BH, Kralli A, Shimizu N, Tanaka H, Schneider MD, M?kel? TP. M?nage-?-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1. Cell Metab. 2007 Feb; 5(2):129-42. PMID: 17276355.
      Citations: 25     Fields:    Translation:AnimalsCells
    149. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
      Citations: 121     Fields:    Translation:HumansCells
    150. Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52. PMID: 17079881.
      Citations: 2     Fields:    Translation:Humans
    151. Scaglia F, Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):113-20. PMID: 16602094; PMCID: PMC4052756.
      Citations: 29     Fields:    Translation:HumansAnimals
    152. Scaglia F, Northrop JL. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. CNS Drugs. 2006; 20(6):443-64. PMID: 16734497.
      Citations: 22     Fields:    Translation:Humans
    153. Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F. Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr. 2005 Dec; 147(6):847-50. PMID: 16356445.
      Citations: 11     Fields:    Translation:Humans
    154. Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006 Jan; 78(1):89-102. PMID: 16385452; PMCID: PMC1380226.
      Citations: 27     Fields:    Translation:HumansCells
    155. Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Nussbaum RL, Barcel?-Coblijn GC. Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol. 2005 Nov; 25(22):10190-201. PMID: 16260631; PMCID: PMC1280279.
      Citations: 121     Fields:    Translation:AnimalsCells
    156. Scaglia F, Wong LJ, Vladutiu GD, Hunter JV. Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol. 2005 Aug; 26(7):1675-80. PMID: 16091512; PMCID: PMC7975170.
      Citations: 18     Fields:    Translation:Humans
    157. Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J, Leimk?hler S. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Hum Genet. 2005 Oct; 117(6):565-70. PMID: 16021469.
      Citations: 6     Fields:    Translation:Humans
    158. Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Wagner C, Scaglia F, St?ckler-Ipsiroglu S. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol. 2005 Apr; 57(4):557-60. PMID: 15786446.
      Citations: 7     Fields:    Translation:Humans
    159. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35. PMID: 15805160; PMCID: PMC1736036.
      Citations: 15     Fields:    Translation:HumansCells
    160. Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 22; 64(6):1088-90. PMID: 15781839.
      Citations: 41     Fields:    Translation:Humans
    161. Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 2005 Feb; 62(2):317-20. PMID: 15710863.
      Citations: 44     Fields:    Translation:HumansCells
    162. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31. PMID: 15466086.
      Citations: 115     Fields:    Translation:HumansCells
    163. Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 10; 134(10 Suppl):2775S-2782S; discussion 2796S-2797S. PMID: 15465784.
      Citations: 21     Fields:    Translation:HumansAnimals
    164. Sano M, Wang SC, Shirai M, Scaglia F, Xie M, Sakai S, Tanaka T, Kulkarni PA, Barger PM, Youker KA, Taffet GE, Hamamori Y, Michael LH, Craigen WJ, Schneider MD. Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. EMBO J. 2004 Sep 01; 23(17):3559-69. PMID: 15297879; PMCID: PMC516624.
      Citations: 63     Fields:    Translation:HumansAnimalsCells
    165. Yatsenko SA, Sahoo T, Rosenkranz M, Mendoza-Londono R, Naeem R, Scaglia F. Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]. Am J Med Genet A. 2004 Jul 01; 128A(1):72-7. PMID: 15211662.
      Citations: 3     Fields:    Translation:HumansCells
    166. Scaglia F, Carter S, O'Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr; 81 Suppl 1:S79-85. PMID: 15050979.
      Citations: 44     Fields:    Translation:Humans
    167. Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A. 2004 Feb 01; 124A(4):392-6. PMID: 14735588.
      Citations: 15     Fields:    Translation:HumansCells
    168. Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9. PMID: 14757860; PMCID: PMC1735672.
      Citations: 14     Fields:    Translation:HumansCells
    169. Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A. 2003 Dec 01; 123A(2):172-8. PMID: 14598342.
      Citations: 29     Fields:    Translation:HumansCells
    170. Scaglia F, Marini J, Rosenberger J, Henry J, Garlick P, Lee B, Reeds P. Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers. Am J Clin Nutr. 2003 Oct; 78(4):749-55. PMID: 14522733.
      Citations: 1     Fields:    Translation:Humans
    171. Scaglia F, Scheuerle AE, Towbin JA, Armstrong DL, Sweetman L, Wong LJ. Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. BMC Pediatr. 2002 Dec 30; 2:12. PMID: 12507404; PMCID: PMC140035.
      Citations: 2     Fields:    Translation:Humans
    172. Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Am J Med Genet. 2002 May 15; 109(4):328-31. PMID: 11992489.
      Citations: 2     Fields:    Translation:Humans
    173. Lam R, Armenta A, Kilic M, Karpen SJ, Scaglia F, Seu P, Goss JA. Tyrosinemia. Liver Transpl. 2002 May; 8(5):500-1. PMID: 12004353.
      Citations: 2     Fields:    Translation:Humans
    174. Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics. 2002 Jan; 109(1):150-2. PMID: 11773558.
      Citations: 10     Fields:    Translation:Humans
    175. Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol. 2001 Dec; 50(6):747-54. PMID: 11761472.
      Citations: 9     Fields:    Translation:HumansCells
    176. Longo N, Scaglia F, Wang Y. Insulin increases the turnover rate of Na+-K+-ATPase in human fibroblasts. Am J Physiol Cell Physiol. 2001 Apr; 280(4):C912-9. PMID: 11245608.
      Citations: 5     Fields:    Translation:HumansCells
    177. Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8. PMID: 11292221.
      Citations: 7     Fields:    Translation:Humans
    178. Scaglia F, Bodamer OA, Berend SA, Adam LR, Shaffer LG. Deletion (9) (p13.1 p21.1). Am J Med Genet. 2000 Mar 13; 91(2):113-5. PMID: 10748408.
      Citations:    Fields:    Translation:HumansCells
    179. Estrov Y, Scaglia F, Bodamer OA. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6. PMID: 10682302.
      Citations: 10     Fields:    Translation:Humans
    180. Bodamer OA, Scaglia F. Sublingual therapy for cobalamin deficiency. Lancet. 1999 Oct 30; 354(9189):1562. PMID: 10551533.
      Citations:    Fields:    Translation:Humans
    181. Scaglia F, Vogler LB, Hymes LC, Maki A. Minimal change nephrotic syndrome: a possible complication of ehrlichiosis. Pediatr Nephrol. 1999 Sep; 13(7):600-1. PMID: 10460510.
      Citations: 3     Fields:    Translation:Humans
    182. Scaglia F, Wang Y, Longo N. Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys. 1999 Apr 01; 364(1):99-106. PMID: 10087170.
      Citations: 9     Fields:    Translation:HumansCells
    183. Scaglia F, Longo N. Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol. 1999 Apr; 23(2):152-61. PMID: 10331466.
      Citations: 16     Fields:    Translation:HumansCells
    184. Scaglia F, Wang Y, Singh RH, Dembure PP, Pasquali M, Fernhoff PM, Longo N. Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. Genet Med. 1998 Nov-Dec; 1(1):34-9. PMID: 11261427.
      Citations: 25     Fields:    Translation:Humans
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