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LORRAINE POTOCKI

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6701 FANNIN
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    K08HD001149     (POTOCKI, LORRAINE)Aug 1, 1996 - Jul 31, 2002
    NIH
    MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Kurtz KJ, Tallis E, Marcogliese AN, Pulivarthi RH, Potocki L, Stevens AM. Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome. Pediatr Hematol Oncol. 2022 Nov; 39(8):747-754. PMID: 35275800.
      Citations: 2     Fields:    Translation:Humans
    2. 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: 5     Fields:    Translation:Humans
    3. Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 01; 6(4):eaax0021. PMID: 32010779; PMCID: PMC6976298.
      Citations: 56     Fields:    Translation:HumansAnimalsCells
    4. Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM, Hern?ndez PP. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662. PMID: 29784638; PMCID: PMC6085991.
      Citations:    Fields:    Translation:Humans
    5. 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
    6. 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
    7. McCool C, Spinks-Franklin A, Noroski LM, Potocki L. Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. Am J Med Genet A. 2017 Mar; 173(3):716-720. PMID: 28127865.
      Citations: 6     Fields:    Translation:HumansCells
    8. Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Baylor-Hopkins Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845. PMID: 27640307; PMCID: PMC5065660.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    9. Yuan B, Neira J, Gu S, Harel T, Liu P, Elsea SH, Potocki L, Lupski JR, Brice?o I, G?mez A. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74. PMID: 27386852; PMCID: PMC5021589.
      Citations: 2     Fields:    Translation:HumansCells
    10. Agarwal S, Potocki L, Collier TR, Woodbury SL, Adesina AM, Jones J, Lotze TE. Utility of whole exome sequencing in evaluation of juvenile motor neuron disease. Muscle Nerve. 2016 Apr; 53(4):648-52. PMID: 26788680.
      Citations: 4     Fields:    Translation:Humans
    11. Yuan B, Harel T, Gu S, Liu P, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Magoulas PL, Potocki L, Lupski JR, Burglen L, Chantot-Bastaraud S, Malan V, Munnich A. 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; PMCID: PMC4667131.
      Citations: 19     Fields:    Translation:HumansCells
    12. 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.
      Citations: 9     Fields:    Translation:HumansCells
    13. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
      Citations: 22     Fields:    Translation:HumansCells
    14. Carter RD, Raia M, Ewing-Cobbs L, Gambello M, Hashmi SS, Peterson SK, Robbins-Furman P, Potocki L. Stress and well-being among parents of children with Potocki-Lupski syndrome. J Genet Couns. 2013 Oct; 22(5):633-42. PMID: 23709095.
      Citations: 4     Fields:    Translation:Humans
    15. Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4. PMID: 22237436; PMCID: PMC3666919.
      Citations: 14     Fields:    Translation:Humans
    16. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. PMID: 21248748; PMCID: PMC3060324.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    17. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70. PMID: 20188345; PMCID: PMC2833368.
      Citations: 43     Fields:    Translation:HumansCells
    18. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8. PMID: 19289393; PMCID: PMC2776649.
      Citations: 96     Fields:    Translation:HumansCells
    19. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. PMID: 18812404; PMCID: PMC2680125.
      Citations: 18     Fields:    Translation:HumansAnimals
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