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ISABELLE SCHRAUWEN

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. Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Friedman RA, Schrauwen I. A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. Mol Genet Genomic Med. 2019 Oct 08; e995. PMID: 31595699.
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    2. Lindquist NR, Appelbaum EN, Acharya A, Vrabec JT, Leal SM, Schrauwen I. A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes. Case Rep Genet. 2019; 2019:2836263. PMID: 31428484.
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    3. Talboom JS, Håberg A, De Both MD, Naymik MA, Schrauwen I, Lewis CR, Bertinelli SF, Hammersland C, Fritz MA, Myers AJ, Hay M, Barnes CA, Glisky E, Ryan L, Huentelman MJ. Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors. Elife. 2019 Jun 18; 8. PMID: 31210642.
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    4. Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. Eur J Hum Genet. 2019 Sep; 27(9):1456-1465. PMID: 31053783.
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    5. Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Heterozygosity mapping for human dominant trait variants. Hum Mutat. 2019 Jul; 40(7):996-1004. PMID: 31018026.
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    6. Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun; 138(6):593-600. PMID: 30982135.
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    7. Valgaeren H, Sommen M, Beyens M, Vandeweyer G, Schrauwen I, Schepers A, Schatteman I, Topsakal V, Dhooge I, Kunst H, Zanetti D, Huber AM, Hoischen A, Fransen E, Van Camp G. Insufficient evidence for a role of SERPINF1 in otosclerosis. Mol Genet Genomics. 2019 Aug; 294(4):1001-1006. PMID: 30968248.
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    8. Peter B, Dinu V, Liu L, Huentelman M, Naymik M, Lancaster H, Vose C, Schrauwen I. Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects. Behav Genet. 2019 07; 49(4):399-414. PMID: 30949922.
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    9. Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019 Jun; 27(6):869-878. PMID: 30872814.
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    10. Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019 Feb; 40(2):162-176. PMID: 30461122.
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    11. Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM. Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. J Hum Genet. 2019 Feb; 64(2):153-160. PMID: 30498240.
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    12. Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019 Jan; 40(1):53-72. PMID: 30303587.
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    13. Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb; 34(2):375-386. PMID: 30395363.
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    14. Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genet Med. 2019 05; 21(5):1199-1208. PMID: 30287925.
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    15. Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018 09 04; 59(11):4552-4557. PMID: 30208423.
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    16. Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. J Hum Genet. 2018 Nov; 63(11):1099-1107. PMID: 30177809.
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    17. Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018 Sep; 137(9):735-752. PMID: 30167849.
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    18. Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet. 2018 07 20; 19(1):122. PMID: 30029624.
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    19. Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet. 2018 Jul; 137(6-7):471-478. PMID: 29971487.
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    20. Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype. Am J Med Genet A. 2018 07; 176(7):1549-1558. PMID: 30160831.
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    21. Schrauwen I, Kari E, Mattox J, Llaci L, Smeeton J, Naymik M, Raible DW, Knowles JA, Crump JG, Huentelman MJ, Friedman RA. De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Hum Genet. 2018 Jul; 137(6-7):459-470. PMID: 29955957.
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    22. Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I. Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 2017 11; 9(11):1373-1386. PMID: 28967789.
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    23. Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. Semin Pediatr Neurol. 2018 07; 26:28-32. PMID: 29961512.
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    24. Peter B, Lancaster H, Vose C, Fares A, Schrauwen I, Huentelman M. Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays. Am J Med Genet A. 2017 Oct; 173(10):2659-2669. PMID: 28767196.
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    25. Kari E, Schrauwen I, Llaci L, Fisher LM, Go JL, Naymik M, Knowles JA, Huentelman MJ, Friedman RA. Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves. Neurol Genet. 2017 Jun; 3(3):e153. PMID: 28534045.
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    26. Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, Craig DW, Campeau PM, Narayanan V, Schrauwen I. Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000Res. 2017; 6:553. PMID: 28663785.
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    27. Piras IS, Krate J, Schrauwen I, Corneveaux JJ, Serrano GE, Sue L, Beach TG, Huentelman MJ. Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway. Hippocampus. 2017 07; 27(7):784-793. PMID: 28380666.
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    28. Picher MM, Gehrt A, Meese S, Ivanovic A, Predoehl F, Jung S, Schrauwen I, Dragonetti AG, Colombo R, Van Camp G, Strenzke N, Moser T. Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. Proc Natl Acad Sci U S A. 2017 02 28; 114(9):E1717-E1726. PMID: 28183797.
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    29. Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a000851. PMID: 27626064.
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    30. Nishio SY, Schrauwen I, Moteki H, Azaiez H. Advances in Molecular Genetics and the Molecular Biology of Deafness. Biomed Res Int. 2016; 2016:5629093. PMID: 27525271.
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    31. Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. Hum Mutat. 2016 08; 37(8):812-9. PMID: 27068579.
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    32. Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. 2016 06 07; 86(23):2171-8. PMID: 27164704.
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    33. You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MBP, Valle D, Armanios M, Hoover-Fong J. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016 05 05; 98(5):909-918. PMID: 27132593.
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    34. Narayanan M, Ramsey K, Grebe T, Schrauwen I, Szelinger S, Huentelman M, Craig D, Narayanan V. Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. F1000Res. 2015; 4:912. PMID: 26535115.
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    35. Schrauwen I, Hasin-Brumshtein Y, Corneveaux JJ, Ohmen J, White C, Allen AN, Lusis AJ, Van Camp G, Huentelman MJ, Friedman RA. A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear. Hear Res. 2016 Mar; 333:266-274. PMID: 26341477.
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    36. Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. PLoS One. 2015; 10(7):e0131797. PMID: 26176221.
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    37. Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):3896-904. PMID: 26091538.
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    38. Szelinger S, Malenica I, Corneveaux JJ, Siniard AL, Kurdoglu AA, Ramsey KM, Schrauwen I, Trent JM, Narayanan V, Huentelman MJ, Craig DW. Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. PLoS One. 2014; 9(12):e113036. PMID: 25503791.
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    39. Schrauwen I, Barber RM, Schatzberg SJ, Siniard AL, Corneveaux JJ, Porter BF, Vernau KM, Keesler RI, Matiasek K, Flegel T, Miller AD, Southard T, Mariani CL, Johnson GC, Huentelman MJ. Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds. PLoS One. 2014; 9(11):e112755. PMID: 25393235.
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    40. Sommen M, Van Camp G, Liktor B, Csomor P, Fransen E, Sziklai I, Schrauwen I, Karosi T. Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype. Otol Neurotol. 2014 Jul; 35(6):1058-64. PMID: 24643032.
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    41. Fransen E, Bonneux S, Corneveaux JJ, Schrauwen I, Di Berardino F, White CH, Ohmen JD, Van de Heyning P, Ambrosetti U, Huentelman MJ, Van Camp G, Friedman RA. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. Eur J Hum Genet. 2015 Jan; 23(1):110-5. PMID: 24939585.
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    42. Ealy M, Meyer NC, Corchado JC, Schrauwen I, Bress A, Pfister M, Van Camp G, Smith RJ. Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling. Otol Neurotol. 2014 Mar; 35(3):395-400. PMID: 24492129.
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    43. Giraldo M, Lopera F, Siniard AL, Corneveaux JJ, Schrauwen I, Carvajal J, Muñoz C, Ramirez-Restrepo M, Gaiteri C, Myers AJ, Caselli RJ, Kosik KS, Reiman EM, Huentelman MJ. Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease. Neurobiol Aging. 2013 Aug; 34(8):2077.e11-8. PMID: 23582655.
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    44. Ali Mosrati M, Schrauwen I, Ben Saiid M, Aifa-Hmani M, Fransen E, Mneja M, Ghorbel A, Van Camp G, Masmoudi S. Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21. J Hum Genet. 2013 Feb; 58(2):98-101. PMID: 23235334.
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    45. Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, Claes K, Bitner-Glindzicz M, Coucke P, Van Camp G, Huentelman MJ. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. Am J Med Genet A. 2013 Jan; 161A(1):145-52. PMID: 23208854.
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    46. Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G. A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet. 2012 10 05; 91(4):636-45. PMID: 22981119.
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    47. Mosrati MA, Schrauwen I, Kamoun H, Charfeddine I, Fransen E, Ghorbel A, Van Camp G, Masmoudi S. Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation. Gene. 2012 Dec 01; 510(2):102-6. PMID: 22975208.
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    48. Schrauwen I, Khalfallah A, Ealy M, Fransen E, Claes C, Huber A, Murillo LR, Masmoudi S, Smith RJ, Van Camp G. COL1A1 association and otosclerosis: a meta-analysis. Am J Med Genet A. 2012 May; 158A(5):1066-70. PMID: 22489040.
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    49. Ealy M, Schrauwen I, Van Camp G. Commentary on "Otosclerosis: thirty-year follow-up after surgery". Ann Otol Rhinol Laryngol. 2011 Sep; 120(9):615-6. PMID: 22032076.
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    50. Khalfallah A, Schrauwen I, Mnejja M, HadjKacem H, Dhouib L, Mosrati MA, Hakim B, Lahmar I, Charfeddine I, Driss N, Ayadi H, Ghorbel A, Van Camp G, Masmoudi S. Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population. Ann Hum Genet. 2011 Sep; 75(5):598-604. PMID: 21777208.
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    51. Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. Am J Med Genet A. 2011 Aug; 155A(8):2021-3. PMID: 21739586.
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    52. Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest Ophthalmol Vis Sci. 2011 Jul 01; 52(7):4774-9. PMID: 21421862.
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    53. Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul; 32(7):825-34. PMID: 21520338.
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    54. Weegerink NJ, Schrauwen I, Huygen PL, Pennings RJ, Cremers CW, Van Camp G, Kunst HP. Phenotype of the first otosclerosis family linked to OTSC10. Laryngoscope. 2011 Apr; 121(4):838-45. PMID: 21433022.
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    55. Khalfallah A, Schrauwen I, Mnaja M, Fransen E, Lahmar I, Ealy M, Dhouib L, Ayadi H, Charfedine I, Driss N, Ghorbel A, Smith RJ, Masmoudi S, Van Camp G. Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia. Ann Hum Genet. 2010 Sep 01; 74(5):399-405. PMID: 20642811.
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    56. Schrauwen I, Van Camp G. The etiology of otosclerosis: a combination of genes and environment. Laryngoscope. 2010 Jun; 120(6):1195-202. PMID: 20513039.
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    57. Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Ealy M, Cremers CW, Dhooge I, Van de Heyning P, Offeciers E, Smith RJ, Van Camp G. No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol. 2009 Dec; 30(8):1079-83. PMID: 19503013.
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    58. Schrauwen I, Ealy M, Fransen E, Vanderstraeten K, Thys M, Meyer NC, Cosgarea M, Huber A, Mazzoli M, Pfister M, Smith RJ, Van Camp G. Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. Hum Genet. 2010 Feb; 127(2):155-62. PMID: 19847460.
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    59. Schrauwen I, Ealy M, Huentelman MJ, Thys M, Homer N, Vanderstraeten K, Fransen E, Corneveaux JJ, Craig DW, Claustres M, Cremers CW, Dhooge I, Van de Heyning P, Vincent R, Offeciers E, Smith RJ, Van Camp G. A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet. 2009 Mar; 84(3):328-38. PMID: 19230858.
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    60. Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe JR, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res. 2008 Apr; 23(4):507-16. PMID: 18021008.
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    61. Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, Dieltjens N, Mnif E, Hachicha S, Besbes G, Ben Arab S, Van Camp G. A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet. 2008 Apr; 123(3):267-72. PMID: 18224337.
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    62. Ali IB, Thys M, Beltaief N, Schrauwen I, Dieltjens N, Vanderstraeten K, Besbes G, Mnif E, Hachicha S, Arab SB, Camp GV. Clinical and genetic analysis of two Tunisian otosclerosis families. Am J Med Genet A. 2007 Jul 15; 143A(14):1653-60. PMID: 17568407.
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    63. Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet. 2007 Sep 01; 16(17):2021-30. PMID: 17588962.
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