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PILAR LENGLET MAGOULAS

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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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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    1. 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.
      View in: PubMed
    2. Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 Jul; 179(7):1376-1382. PMID: 31069960.
      View in: PubMed
    3. Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5(2):e565. PMID: 31192300.
      View in: PubMed
    4. 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 07 05; 103(1):154-162. PMID: 29961569.
      View in: PubMed
    5. Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662. PMID: 29784638.
      View in: PubMed
    6. Bamshad MJ, Magoulas PL, Dent KM. Genetic counselors on the frontline of precision health. Am J Med Genet C Semin Med Genet. 2018 03; 178(1):5-9. PMID: 29582554.
      View in: PubMed
    7. 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, Gril S, 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. 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.
      View in: PubMed
    8. 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.
      View in: PubMed
    9. Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, 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.
      View in: PubMed
    10. 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.
      View in: PubMed
    11. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 08; 136(8):1009-1011. PMID: 28660352.
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    12. Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations. Pediatr Neurol. 2017 Oct; 75:66-72. PMID: 28823629.
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    13. Xue Y, Magoulas PL, Wirthlin JO, Buchanan EP. Craniofacial Manifestations in Severe Nemaline Myopathy. J Craniofac Surg. 2017 May; 28(3):e258-e260. PMID: 28468212.
      View in: PubMed
    14. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386. PMID: 28251352.
      View in: PubMed
    15. Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 04; 98(2):373-81. PMID: 26833328.
      View in: PubMed
    16. Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707. PMID: 26544804.
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    17. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83. PMID: 25439098.
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    18. Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. PMID: 25180280.
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    19. Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb; 164A(2):500-4. PMID: 24311450.
      View in: PubMed
    20. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012 Sep 18; 7:68. PMID: 22989098.
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    21. Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-461. PMID: 22901280.
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    22. Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun; 43(6):943-51. PMID: 22305237.
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    23. Magoulas PL, El-Hattab AW. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis. 2012 Jan 04; 7:2. PMID: 22216833.
      View in: PubMed
    24. Umaña LA, Magoulas P, Bi W, Bacino CA. A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). Am J Med Genet A. 2011 Dec; 155A(12):3071-4. PMID: 22052692.
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    25. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008 Jul; 10(7):469-94. PMID: 18580689.
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    26. Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008 Jan; 10(1):13-8. PMID: 18197052.
      View in: PubMed
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