My Bibliography

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Xiao C, Koziura M, Cope H, Spillman R, Tan K, Hisama FM, Tifft CJ, Toro C. Adults with lysosomal storage diseases in the undiagnosed diseases network. Mol Genet Genomic Med. 2022 Sep;10(9):e2013. doi: 10.1002/mgg3.2013. Epub 2022 Jul 18. PubMed PMID: 35848209; PubMed Central PMCID: PMC9482386.

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Montano C, Cassini T, Ziegler SG, Boehm M, Nicoli ER, Mindell JA, Soldatos AG, Manoli I, Wolfe L, Macnamara EF, Malicdan MCV, Adams DR, Tifft CJ, Toro C, Gahl WA. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. J Inherit Metab Dis. 2022 Sep;45(5):907-918. doi: 10.1002/jimd.12506. Epub 2022 May 16. Review. PubMed PMID: 35490291.

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Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, Bönnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 Jul 6;30(7):2416-2428. doi: 10.1016/j.ymthe.2022.05.014. Epub 2022 May 17. Review. PubMed PMID: 35585789; PubMed Central PMCID: PMC9263284.

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Vial F, McGurrin P, Attaripour S, d'Azzo A, Tifft CJ, Toro C, Hallett M. Myoclonus generators in sialidosis. Clin Neurophysiol Pract. 2022;7:169-173. doi: 10.1016/j.cnp.2022.05.004. eCollection 2022. PubMed PMID: 35800887; PubMed Central PMCID: PMC9253402.

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Grosso BJ, Kramer AA, Tyagi S, Bennett DF, Tifft CJ, D'Souza P, Wangler MF, Macnamara EF, Meza U, Bannister RA. Complex effects on Ca(V)2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder. Sci Rep. 2022 Jun 2;12(1):9186. doi: 10.1038/s41598-022-12789-y. PubMed PMID: 35655070; PubMed Central PMCID: PMC9163077.

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Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH Jr, Martin DR, Gray-Edwards HL, Sena-Esteves M. AAV gene therapy for Tay-Sachs disease. Nat Med. 2022 Feb;28(2):251-259. doi: 10.1038/s41591-021-01664-4. Epub 2022 Feb 10. PubMed PMID: 35145305; PubMed Central PMCID: PMC10786171.

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Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM. GM1 Gangliosidosis-A Mini-Review. Front Genet. 2021;12:734878. doi: 10.3389/fgene.2021.734878. eCollection 2021. Review. PubMed PMID: 34539759; PubMed Central PMCID: PMC8446533.

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Daich Varela M, Zein WM, Toro C, Groden C, Johnston J, Huryn LA, d'Azzo A, Tifft CJ, FitzGibbon EJ. A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. Br J Ophthalmol. 2021 Jun;105(6):838-843. doi: 10.1136/bjophthalmol-2020-316826. Epub 2020 Aug 4. PubMed PMID: 32753397; PubMed Central PMCID: PMC8142419.

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Percival BC, Latour YL, Tifft CJ, Grootveld M. Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased (1)H NMR-Linked Metabolomics Strategy. Cells. 2021 Mar 5;10(3). doi: 10.3390/cells10030572. PubMed PMID: 33807817; PubMed Central PMCID: PMC7998791.

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Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. PubMed PMID: 33093671; PubMed Central PMCID: PMC7867619.

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Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E, Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv. 2021 Jan;7(4). doi: 10.1126/sciadv.abe2116. Print 2021 Jan. PubMed PMID: 33523931; PubMed Central PMCID: PMC7817106.

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Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G, Ferreira CR, Zein WM, Tifft CJ, Adams DR. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7. Review. PubMed PMID: 33159716; PubMed Central PMCID: PMC7767569.

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Macnamara EF, D'Souza P, Tifft CJ. The undiagnosed diseases program: Approach to diagnosis. Transl Sci Rare Dis. 2020 Apr 13;4(3-4):179-188. doi: 10.3233/TRD-190045. PubMed PMID: 32477883; PubMed Central PMCID: PMC7250153.

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Zhu H, Meissner LE, Byrnes C, Tuymetova G, Tifft CJ, Proia RL. The Complement Regulator Susd4 Influences Nervous-System Function and Neuronal Morphology in Mice. iScience. 2020 Mar 27;23(3):100957. doi: 10.1016/j.isci.2020.100957. Epub 2020 Feb 28. PubMed PMID: 32179479; PubMed Central PMCID: PMC7075988.

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Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. Bone. 2020 Feb;131:115142. doi: 10.1016/j.bone.2019.115142. Epub 2019 Nov 6. PubMed PMID: 31704340; PubMed Central PMCID: PMC6937522.

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Latour YL, Yoon R, Thomas SE, Grant C, Li C, Sena-Esteves M, Allende ML, Proia RL, Tifft CJ. Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. Mol Genet Metab Rep. 2019 Dec;21:100513. doi: 10.1016/j.ymgmr.2019.100513. eCollection 2019 Dec. PubMed PMID: 31534909; PubMed Central PMCID: PMC6744524.

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Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genet Med. 2019 Aug;21(8):1772-1780. doi: 10.1038/s41436-019-0434-0. Epub 2019 Jan 31. PubMed PMID: 30700791; PubMed Central PMCID: PMC6669106.

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Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30. PubMed PMID: 31155284; PubMed Central PMCID: PMC6562152.

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Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G, Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ. Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. Hum Mutat. 2019 May;40(5):532-538. doi: 10.1002/humu.23722. Epub 2019 Mar 12. PubMed PMID: 30740830; PubMed Central PMCID: PMC6693334.

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Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV. Glycomics in rare diseases: from diagnosis tomechanism. Transl Res. 2019 Apr;206:5-17. doi: 10.1016/j.trsl.2018.10.005. Epub 2018 Oct 23. PubMed PMID: 30423312.

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Dunn TM, Tifft CJ, Proia RL. A perilous path: the inborn errors of sphingolipid metabolism. J Lipid Res. 2019 Mar;60(3):475-483. doi: 10.1194/jlr.S091827. Epub 2019 Jan 25. Review. PubMed PMID: 30683667; PubMed Central PMCID: PMC6399501.

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Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Mol Genet Metab. 2019 Feb;126(2):188-195. doi: 10.1016/j.ymgme.2018.12.001. Epub 2018 Dec 3. PubMed PMID: 30528883.

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Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM Jr, Buckley DJ, Lewis R, Toro C, Bai R, Turner L, Mathews KD, Gahl W, Pierson TM. Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. Ann Clin Transl Neurol. 2019 Jan;6(1):154-160. doi: 10.1002/acn3.661. eCollection 2019 Jan. PubMed PMID: 30656193; PubMed Central PMCID: PMC6331954.

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Davids M, Markello T, Wolfe LA, Chepa-Lotrea X, Tifft CJ, Gahl WA, Malicdan MCV. Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Hum Mutat. 2019 Jan;40(1):42-47. doi: 10.1002/humu.23675. Epub 2018 Nov 18. PubMed PMID: 30362252; PubMed Central PMCID: PMC6296882.

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Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11. PubMed PMID: 30548380; PubMed Central PMCID: PMC11157598.

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Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10. PubMed PMID: 30304647; PubMed Central PMCID: PMC6481166.

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Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. PubMed PMID: 30290151; PubMed Central PMCID: PMC6174323.

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Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Review. PubMed PMID: 30275469.

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Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28. PubMed PMID: 29961569; PubMed Central PMCID: PMC6035372.

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Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, LeDoux MS. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. PubMed PMID: 29447355; PubMed Central PMCID: PMC6093340.

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Allende ML, Cook EK, Larman BC, Nugent A, Brady JM, Golebiowski D, Sena-Esteves M, Tifft CJ, Proia RL. Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. J Lipid Res. 2018 Mar;59(3):550-563. doi: 10.1194/jlr.M081323. Epub 2018 Jan 22. PubMed PMID: 29358305; PubMed Central PMCID: PMC5832932.

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Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14. PubMed PMID: 28675565; PubMed Central PMCID: PMC5599332.

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Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF. Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. Front Med (Lausanne). 2017;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017. PubMed PMID: 28603714; PubMed Central PMCID: PMC5445140.

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Gray-Edwards HL, Regier DS, Shirley JL, Randle AN, Salibi N, Thomas SE, Latour YL, Johnston J, Golas G, Maguire AS, Taylor AR, Sorjonen DC, McCurdy VJ, Christopherson PW, Bradbury AM, Beyers RJ, Johnson AK, Brunson BL, Cox NR, Baker HJ, Denney TS, Sena-Esteves M, Tifft CJ, Martin DR. Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model. Mol Ther. 2017 Apr 5;25(4):892-903. doi: 10.1016/j.ymthe.2017.01.009. Epub 2017 Feb 22. PubMed PMID: 28236574; PubMed Central PMCID: PMC5383552.

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Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ, Wise AL. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006. PubMed PMID: 28157539; PubMed Central PMCID: PMC5294757.

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Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. PubMed PMID: 27389779; PubMed Central PMCID: PMC5222737.

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Lee EM, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, Flynn E, Valkanas E, Toro C, Tifft CJ, Boerkoel CF, Gahl WA, Sincan M. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. Genet Med. 2016 Dec;18(12):1303-1307. doi: 10.1038/gim.2016.47. Epub 2016 Jun 2. PubMed PMID: 27253732; PubMed Central PMCID: PMC5133159.

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Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12. PubMed PMID: 26562225; PubMed Central PMCID: PMC4916229.

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Regier DS, Proia RL, D'Azzo A, Tifft CJ. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1(Suppl 1):663-73. Review. PubMed PMID: 27491214; PubMed Central PMCID: PMC8186028.

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Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. Mol Genet Metab. 2016 Apr;117(4):393-400. doi: 10.1016/j.ymgme.2016.01.007. Epub 2016 Jan 22. PubMed PMID: 26846157; PubMed Central PMCID: PMC5560125.

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Regier DS, Kwon HJ, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH, Tifft CJ. MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. Am J Med Genet A. 2016 Mar;170(3):634-44. doi: 10.1002/ajmg.a.37468. Epub 2015 Dec 8. PubMed PMID: 26646981.

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Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. BMC Genomics. 2015 Nov 25;16:998. doi: 10.1186/s12864-015-2107-y. PubMed PMID: 26602380; PubMed Central PMCID: PMC4659195.

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Karkashon S, Raghupathy R, Bhatia H, Dutta A, Hess S, Higgs J, Tifft CJ, Little JA. Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells. Blood Cells Mol Dis. 2015 Aug;55(2):161-7. doi: 10.1016/j.bcmd.2015.05.006. Epub 2015 May 27. PubMed PMID: 26142333.

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Regier DS, Leon E, Counts DR, Tifft CJ, Zand DJ. Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15. Am J Med Genet A. 2015 Aug;167A(8):1944-8. doi: 10.1002/ajmg.a.37090. Epub 2015 Apr 21. PubMed PMID: 25900722.

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Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. PubMed PMID: 26119818; PubMed Central PMCID: PMC4572501.

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Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Hum Mol Genet. 2015 Jun 1;24(11):3050-7. doi: 10.1093/hmg/ddv057. Epub 2015 Feb 12. PubMed PMID: 25678555; PubMed Central PMCID: PMC4424951.

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Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. MED23-associated intellectual disability in a non-consanguineous family. Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2. PubMed PMID: 25845469; PubMed Central PMCID: PMC5671761.

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Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH. Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4. PubMed PMID: 25736553; PubMed Central PMCID: PMC4405612.

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Tifft CJ, Adams DR. The National Institutes of Health undiagnosed diseases program. Curr Opin Pediatr. 2014 Dec;26(6):626-33. doi: 10.1097/MOP.0000000000000155. Review. PubMed PMID: 25313974; PubMed Central PMCID: PMC4302336.

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Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Am J Med Genet A. 2014 Nov;164A(11):2892-900. doi: 10.1002/ajmg.a.36709. Epub 2014 Sep 22. PubMed PMID: 25251875; PubMed Central PMCID: PMC4205164.

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