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Year Number of Results
2017 1
2018 4
2019 6
2020 3
2022 1
2024 0

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12 results

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Page 1
Hot water epilepsy and SYN1 variants.
Peron A, Baratang NV, Canevini MP, Campeau PM, Vignoli A. Peron A, et al. Among authors: baratang nv. Epilepsia. 2018 Nov;59(11):2162-2163. doi: 10.1111/epi.14572. Epilepsia. 2018. PMID: 30390306 No abstract available.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM. Johnstone DL, et al. Among authors: baratang nv. J Inherit Metab Dis. 2020 Nov;43(6):1321-1332. doi: 10.1002/jimd.12278. Epub 2020 Aug 3. J Inherit Metab Dis. 2020. PMID: 32588908 Free PMC article. Review.
Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes.
Raggi C, M'Callum MA, Pham QT, Gaub P, Selleri S, Baratang NV, Mangahas CL, Cagnone G, Reversade B, Joyal JS, Paganelli M. Raggi C, et al. Among authors: baratang nv. Stem Cell Reports. 2022 Mar 8;17(3):584-598. doi: 10.1016/j.stemcr.2022.01.003. Epub 2022 Feb 3. Stem Cell Reports. 2022. PMID: 35120625 Free PMC article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: baratang nv. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. Nguyen TTM, et al. Among authors: baratang nv. Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26. Am J Hum Genet. 2020. PMID: 32220290 Free PMC article.
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM. Costantini A, et al. Among authors: baratang nv. Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30. Bone. 2019. PMID: 30599297
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Murakami Y, et al. Among authors: baratang n. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256876 Free PMC article.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM. Nguyen TTM, et al. Among authors: baratang nv. Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27. Am J Hum Genet. 2018. PMID: 30269814 Free PMC article.
12 results