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LAURIE ROBAK

TitleInstructor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6701 FANNIN
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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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    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. McGivern B, Morrow M, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P, McGivern B, Morrow MM, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P. MGA-related syndrome: A proposed novel disorder. HGG Adv. 2024 Nov 26; 6(1):100387. PMID: 39600096.
      Citations:    Fields:    
    2. Chew EG, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, Heng YJ, Ng EY, Tan LC, Chng WL, Tan TJ, Peh EK, Ho YS, Chen XY, Lim EY, Chang CH, Leong JJ, Peh TX, Chan LL, Chao Y, Au WL, Prakash KM, Lim JL, Tay YW, Mok V, Chan AY, Lin JJ, Jeon BS, Song K, Tham CC, Pang CP, Ahn J, Park KH, Wiggs JL, Aung T, Tan AH, Ahmad Annuar A, Makarious MB, Blauwendraat C, Nalls MA, Robak LA, Alcalay RN, Gan-Or Z, Reynolds R, Lim SY, Xia Y, Khor CC, Tan EK, Wang Z, Foo JN. Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk. Nat Aging. 2024 Nov 21. PMID: 39572736.
      Citations:    Fields:    
    3. Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Cuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochm?ller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, H?usler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Brain malformations and seizures by impaired chaperonin function of TRiC. Science. 2024 Nov; 386(6721):516-525. PMID: 39480921.
      Citations:    Fields:    Translation:HumansAnimalsCells
    4. Park JW, Choi TI, Kim TY, Lee YR, Don DW, George-Abraham JK, Robak LA, Trandafir CC, Liu P, Rosenfeld JA, Kim TH, Petit F, Kim YM, Cheon CK, Lee Y, Kim CH, Park JW, Choi TI, Kim TY, Lee YR, Don DW, George-Abraham JK, Robak LA, Trandafir CC, Liu P, Rosenfeld JA, Kim TH, Kim YM, Cheon CK, Lee Y, Kim CH. RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. J Genet Genomics. 2024 Dec; 51(12):1389-1403. PMID: 39368701; PMCID: PMC11624490.
      Citations:    Fields:    
    5. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M, Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102. PMID: 38431799; PMCID: PMC11161315.
      Citations:    Fields:    Translation:Humans
    6. Ye H, Robak LA, Yu M, Cykowski M, Shulman JM. Genetics and Pathogenesis of Parkinson's Syndrome. Annu Rev Pathol. 2023 01 24; 18:95-121. PMID: 36100231; PMCID: PMC10290758.
      Citations:    
    7. Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288. PMID: 35871307; PMCID: PMC9380164.
      Citations:    Fields:    
    8. Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM. Genome Sequencing in the Parkinson Disease Clinic. Neurol Genet. 2022 Aug; 8(4):e200002. PMID: 35747619; PMCID: PMC9210549.
      Citations:    
    9. Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324. PMID: 33949769; PMCID: PMC8562426.
      Citations:    Fields:    Translation:Humans
    10. Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, Hinojosa E, Stillwell A, Young E, Zhang C, Song X, Du H, Gambin T, Jhangiani SN, Coban Akdemir Z, Muzny DM, Tejomurtula A, Ross OA, Shaw C, Jankovic J, Bi W, Posey JE, Lupski JR, Shulman JM. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020 Oct; 6(5):e498. PMID: 32802956; PMCID: PMC7413630.
      Citations: 4     
    11. Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X. The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Hum Mutat. 2020 10; 41(10):1738-1744. PMID: 32643838.
      Citations: 1     Fields:    Translation:HumansCells
    12. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT, K?ry S. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074; PMCID: PMC7118694.
      Citations: 15     Fields:    Translation:Humans
    13. Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 30850373; PMCID: PMC6549558.
      Citations: 11     Fields:    Translation:HumansCells
    14. Ehresmann S, Beauregard-Lacroix E, Rousseau J, Garcia T, Avni S, McWalter K, Blackburn PR, Sanders SJ, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Bedoukian E, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Wentzensen IM, CAUSES Study, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Biesecker LG, Lowenstein D, Posey JE, Deciphering Developmental Disorders study, Yang XJ, Rosenfeld JA, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Campeau PM, Cogn? B, Besnard T, Petrovski S, Uguen K, Gordon CT, Nordenskj?ld M, Holla ?L, Filippini F, Guimier A, Picard A, Busk ?L, Toutain A, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Amiel J, Lyonnet S, Isidor B, Denomm?-Pichon AS, F?rec C, Gilbert-Dussardier B, Audebert-Bellanger S, B?zieau S, K?ry S. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541. PMID: 30827496; PMCID: PMC6407527.
      Citations: 12     Fields:    Translation:HumansCells
    15. Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ. The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28. PMID: 29529134; PMCID: PMC11505533.
      Citations: 3     Fields:    Translation:Humans
    16. 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
    17. Robak LA, van Rooij J, Kraaij R, Jankovic J, Shulman JM, Jansen IE, Uitterlinden AG, International Parkinson?s Disease Genomics Consortium (IPDGC), Heutink P. Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain. 2017 12 01; 140(12):3191-3203. PMID: 29140481; PMCID: PMC5841393.
      Citations: 131     Fields:    Translation:Humans
    18. van Woerden GM, Proietti Onori M, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Sellars EA, Berg J, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Sutton VR, Thies J, Peart-Vissers LELM, Grabrucker AM, Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Redon R, Yang Y, State MW, Kleefstra T, Deciphering Developmental Disorders Study, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Elgersma Y, K?ry S, Besnard T, Latypova X, Denomm?-Pichon AS, Lesca G, Carr? W, Busk ?L, Holla ?L, Cherot E, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Boisseau P, Vincent M, Dubourg C, Isidor B, Pasquier L, Cogn? B, GEM HUGO, Petrovski S, B?zieau S, Odent S, Mercier S. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. PMID: 29100089; PMCID: PMC5673671.
      Citations: 53     Fields:    Translation:HumansAnimalsCells
    19. Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ, International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hardy JA, Wood NW, Houlden H, Shulman JM, Morris HR, Nalls MA, Singleton AB, Scholz SW, Elbaz A, Lesage S, Corvol JC, Hernandez DG, Brice A, Gasser T, Kr?ger R, Heutink P, Sharma M, Sim?n-S?nchez J. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol Aging. 2017 09; 57:247.e9-247.e13. PMID: 28602509; PMCID: PMC5534378.
      Citations: 42     Fields:    Translation:Humans
    20. Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W, DDD Study, CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104. PMID: 27939640; PMCID: PMC5223032.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    21. Chao YH, Robak LA, Xia F, Koenig MK, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MF. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56. PMID: 26931468; PMCID: PMC5007591.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    22. Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75. PMID: 26595808; PMCID: PMC4946647.
      Citations: 33     Fields:    Translation:Humans
    23. Robak LA, Venkatesh K, Lee H, Raiker SJ, Duan Y, Lee-Osbourne J, Hofer T, Mage RG, Rader C, Giger RJ. Molecular basis of the interactions of the Nogo-66 receptor and its homolog NgR2 with myelin-associated glycoprotein: development of NgROMNI-Fc, a novel antagonist of CNS myelin inhibition. J Neurosci. 2009 May 06; 29(18):5768-83. PMID: 19420245; PMCID: PMC2779053.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    24. Lee H, Raiker SJ, Venkatesh K, Geary R, Robak LA, Zhang Y, Yeh HH, Shrager P, Giger RJ. Synaptic function for the Nogo-66 receptor NgR1: regulation of dendritic spine morphology and activity-dependent synaptic strength. J Neurosci. 2008 Mar 12; 28(11):2753-65. PMID: 18337405; PMCID: PMC6670664.
      Citations: 93     Fields:    Translation:HumansAnimalsCells
    25. Giger RJ, Venkatesh K, Chivatakarn O, Raiker SJ, Robak L, Hofer T, Lee H, Rader C. Mechanisms of CNS myelin inhibition: evidence for distinct and neuronal cell type specific receptor systems. Restor Neurol Neurosci. 2008; 26(2-3):97-115. PMID: 18820405; PMCID: PMC7259427.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
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