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PILAR LENGLET MAGOULAS

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressClinical Care Center, Suite 1560
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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    1. 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. 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 4; 98(2):373-81. PMID: 26833328; PMCID: PMC4746365 [Available on 08/04/16].
    2. 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 5; 97(5):691-707. PMID: 26544804.
      View in: PubMed
    3. Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015; 10:75. PMID: 26070612.
      View in: PubMed
    4. 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 6; 95(5):579-83. PMID: 25439098; PMCID: PMC4225583.
    5. 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; PMCID: PMC4179092.
    6. 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.
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    7. Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? Clin Genet. 2014 Feb; 85(2):138-46. PMID: 23379592; PMCID: PMC4480871.
    8. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012; 7:68. PMID: 22989098; PMCID: PMC3495906.
    9. Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu YQ, Wang M, McGuire AL, 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):457-61. PMID: 22901280; PMCID: PMC3926310.
    10. 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.
      View in: PubMed
    11. Magoulas PL, El-Hattab AW. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis. 2012; 7:2. PMID: 22216833; PMCID: PMC3275445.
    12. UmaƱa 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.
      View in: PubMed
    13. 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; PMCID: PMC2671242.
    14. 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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