| Year |
Citation |
Score |
| 2023 |
Salokivi T, Parkkola R, Rajendran Y, Bharadwaj T, Acharya A, Leal SM, Järvelä I, Arvio M, Schrauwen I. A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria. American Journal of Medical Genetics. Part A. PMID 37975178 DOI: 10.1002/ajmg.a.63478 |
0.306 |
|
| 2023 |
Malik MA, Saqib MAN, Mientjes E, Acharya A, Alam MR, Wallaard I, Schrauwen I, Bamshad MJ, Santos-Cortez RLP, Elgersma Y, Leal SM, Ansar M. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. European Journal of Human Genetics : Ejhg. PMID 37821758 DOI: 10.1038/s41431-023-01475-w |
0.301 |
|
| 2023 |
Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Ali H, Hasni MS, Schrauwen I, Ullah A, et al. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. European Journal of Human Genetics : Ejhg. PMID 37684519 DOI: 10.1038/s41431-023-01450-5 |
0.389 |
|
| 2023 |
Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. Clinical Genetics. PMID 37311648 DOI: 10.1111/cge.14390 |
0.355 |
|
| 2023 |
Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I. A Novel Variant in Underlying Cohen Syndrome. Biomed Research International. 2023: 9993801. PMID 37090188 DOI: 10.1155/2023/9993801 |
0.309 |
|
| 2023 |
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, ... ... Schrauwen I, et al. Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics. PMID 36807241 DOI: 10.1111/cge.14312 |
0.351 |
|
| 2023 |
Cornejo-Sanchez DM, Li G, Fabiha T, Wang R, Acharya A, Everard JL, Kadlubowska MK, Huang Y, Schrauwen I, Wang GT, DeWan AT, Leal SM. Rare-variant association analysis reveals known and new age-related hearing loss genes. European Journal of Human Genetics : Ejhg. PMID 36788145 DOI: 10.1038/s41431-023-01302-2 |
0.353 |
|
| 2022 |
Tavernier LJM, Vanpoucke T, Schrauwen I, Van Camp G, Fransen E. Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study. Journal of Clinical Medicine. 11. PMID 36498562 DOI: 10.3390/jcm11236978 |
0.361 |
|
| 2022 |
Adadey SM, Aboagye ET, Esoh K, Acharya A, Bharadwaj T, Lin NS, Amenga-Etego L, Awandare GA, Schrauwen I, Leal SM, Wonkam A. A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. Bmc Medical Genomics. 15: 237. PMID 36357908 DOI: 10.1186/s12920-022-01391-w |
0.36 |
|
| 2022 |
Schrauwen I, Ghaffar A, Bharadwaj T, Shah K, Rehman S, Acharya A, Liaqat K, Lin NS, Everard JL, Khan A, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Syntaxin 4 is essential for hearing in human and zebrafish. Human Molecular Genetics. PMID 36355422 DOI: 10.1093/hmg/ddac257 |
0.305 |
|
| 2022 |
Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J, Ling C, Guo X, Liu Y, Yu M, Leng Y, Meng L, Sun Y, Deng J, Leal SM, ... Schrauwen I, et al. Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of Neurology. PMID 36319768 DOI: 10.1007/s00415-022-11432-0 |
0.317 |
|
| 2022 |
Hussain S, Nawaz S, Khan H, Acharya A, Schrauwen I, Ahmad W, Leal SM. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Annals of Human Genetics. PMID 36039988 DOI: 10.1111/ahg.12462 |
0.342 |
|
| 2022 |
Yalcouyé A, Traoré O, Diarra S, Schrauwen I, Esoh K, Kadlubowska MK, Bharadwaj T, Adadey SM, Kéita M, Guinto CO, Leal SM, Landouré G, Wonkam A. A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. Molecular Genetics & Genomic Medicine. e1995. PMID 35698919 DOI: 10.1002/mgg3.1995 |
0.303 |
|
| 2022 |
Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. Genes. 13. PMID 35627139 DOI: 10.3390/genes13050754 |
0.335 |
|
| 2022 |
Liaqat K, Hussain S, Acharya A, Nasir A, Bharadwaj T, Ansar M, Basit S, Schrauwen I, Ahmad W, Leal SM. Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes. 13. PMID 35456468 DOI: 10.3390/genes13040662 |
0.354 |
|
| 2022 |
Wonkam A, Adadey SM, Schrauwen I, Aboagye ET, Wonkam-Tingang E, Esoh K, Popel K, Manyisa N, Jonas M, deKock C, Nembaware V, Cornejo Sanchez DM, Bharadwaj T, Nasir A, Everard JL, et al. Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications Biology. 5: 369. PMID 35440622 DOI: 10.1038/s42003-022-03326-8 |
0.376 |
|
| 2022 |
Bharadwaj T, Schrauwen I, Acharya A, Nouel-Saied LM, Väisänen ML, Kraatari M, Rahikkala E, Jarvela I, Kotimäki J, Leal SM. Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular Genetics & Genomic Medicine. e1866. PMID 35150090 DOI: 10.1002/mgg3.1866 |
0.328 |
|
| 2021 |
Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, Bharadwaj T, Nouel-Saied LM, Acharya A, Schrauwen I, Morell RJ, Leal SM, Friedman TB, Griffith AJ, Roux I. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European Journal of Human Genetics : Ejhg. PMID 34837038 DOI: 10.1038/s41431-021-00984-w |
0.403 |
|
| 2021 |
Manyisa N, Schrauwen I, de Souza Rios LA, Mowla S, Tekendo-Ngongang C, Popel K, Esoh K, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Wonkam-Tingang E, Kock C, Dandara C, Leal SM, et al. A Monoallelic Variant in Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. Genes. 12. PMID 34828371 DOI: 10.3390/genes12111765 |
0.366 |
|
| 2021 |
Højland AT, Tavernier LJM, Schrauwen I, Sommen M, Topsakal V, Schatteman I, Dhooge I, Huber A, Zanetti D, Kunst HPM, Hoischen A, Petersen MB, Van Camp G, Fransen E. A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis. Human Genetics. PMID 34410490 DOI: 10.1007/s00439-021-02334-8 |
0.329 |
|
| 2021 |
Acharya A, Schrauwen I, Leal SM. Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. Human Genetics. PMID 34291353 DOI: 10.1007/s00439-021-02309-9 |
0.362 |
|
| 2021 |
Adadey SM, Schrauwen I, Aboagye ET, Bharadwaj T, Esoh KK, Basit S, Acharya A, Nouel-Saied LM, Liaqat K, Wonkam-Tingang E, Mowla S, Awandare GA, Ahmad W, Leal SM, Wonkam A. Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment. Journal of Human Genetics. PMID 34226616 DOI: 10.1038/s10038-021-00954-6 |
0.414 |
|
| 2021 |
Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, et al. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European Journal of Human Genetics : Ejhg. PMID 34135477 DOI: 10.1038/s41431-021-00913-x |
0.356 |
|
| 2021 |
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Leal SM, Wonkam A. A novel variant in gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. Experimental Biology and Medicine (Maywood, N.J.). 1535370221999746. PMID 33715530 DOI: 10.1177/1535370221999746 |
0.397 |
|
| 2021 |
Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, ... ... Schrauwen I, et al. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human Genetics. PMID 33710394 DOI: 10.1007/s00439-021-02268-1 |
0.408 |
|
| 2020 |
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Adadey SM, Mowla S, Leal SM, Wonkam A. Bi-Allelic Novel Variants in Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. Genes. 11. PMID 33114113 DOI: 10.3390/genes11111249 |
0.409 |
|
| 2020 |
Xie Z, Sun C, Zhang S, Liu Y, Yu M, Zheng Y, Meng L, Acharya A, Cornejo-Sanchez DM, Wang G, Zhang W, Schrauwen I, Leal SM, Wang Z, Yuan Y. Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies. Annals of Clinical and Translational Neurology. PMID 32951359 DOI: 10.1002/Acn3.51201 |
0.381 |
|
| 2020 |
Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, et al. Congenital myasthenic syndrome caused by a frameshift insertion mutation in . Neurology. Genetics. 6: e468. PMID 32754643 DOI: 10.1212/Nxg.0000000000000468 |
0.413 |
|
| 2020 |
Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM. Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. Genes. 11. PMID 32585897 DOI: 10.3390/Genes11060687 |
0.494 |
|
| 2020 |
Piras IS, Bleul C, Schrauwen I, Talboom J, Llaci L, De Both MD, Naymik MA, Halliday G, Bettencourt C, Holton JL, Serrano GE, Sue LI, Beach TG, Stefanova N, Huentelman MJ. Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease. Acta Neuropathologica Communications. 8: 76. PMID 32493431 DOI: 10.1186/S40478-020-00950-5 |
0.343 |
|
| 2020 |
Szalai R, Melegh BI, Till A, Ripszam R, Csabi G, Acharya A, Schrauwen I, Leal SM, Komoly S, Kosztolanyi G, Hadzsiev K. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. Experimental and Molecular Pathology. 115: 104471. PMID 32446860 DOI: 10.1016/J.Yexmp.2020.104471 |
0.438 |
|
| 2020 |
Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Liang W, Friedman RA, Schrauwen I. Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations. Ear and Hearing. PMID 31985533 DOI: 10.1097/Aud.0000000000000819 |
0.331 |
|
| 2019 |
Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, ... ... Schrauwen I, et al. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Human Genetics. 138: 1409-1417. PMID 31748968 DOI: 10.1007/S00439-019-02077-7 |
0.441 |
|
| 2019 |
McCullough CG, Szelinger S, Belnap N, Ramsey K, Schrauwen I, Claasen AM, Burke LW, Siniard AL, Huentelman MJ, Narayanan V, Craig DW. Utilizing RNA and Outlier Analysis to Identify an Intronic Splice-Altering Variant in AP4S1 in a Sibling Pair with Progressive Spastic Paraplegia. Human Mutation. PMID 31660686 DOI: 10.1002/Humu.23939 |
0.436 |
|
| 2019 |
Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. Journal of Human Genetics. PMID 31656313 DOI: 10.1038/S10038-019-0691-4 |
0.467 |
|
| 2019 |
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. Molecular Genetics & Genomic Medicine. e995. PMID 31595699 DOI: 10.1002/Mgg3.995 |
0.347 |
|
| 2019 |
Lindquist NR, Appelbaum EN, Acharya A, Vrabec JT, Leal SM, Schrauwen I. A Start Codon Variant in Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes. Case Reports in Genetics. 2019: 2836263. PMID 31428484 DOI: 10.1155/2019/2836263 |
0.417 |
|
| 2019 |
Talboom JS, Håberg AK, 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. 8. PMID 31210642 DOI: 10.7554/Elife.46179 |
0.336 |
|
| 2019 |
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. European Journal of Human Genetics : Ejhg. PMID 31053783 DOI: 10.1038/S41431-019-0417-2 |
0.424 |
|
| 2019 |
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. Human Mutation. PMID 31018026 DOI: 10.1002/Humu.23765 |
0.441 |
|
| 2019 |
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, et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human Genetics. PMID 30982135 DOI: 10.1007/S00439-019-02000-0 |
0.44 |
|
| 2019 |
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. Molecular Genetics and Genomics : Mgg. PMID 30968248 DOI: 10.1007/S00438-019-01558-8 |
0.484 |
|
| 2019 |
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. Behavior Genetics. PMID 30949922 DOI: 10.1007/S10519-019-09957-8 |
0.407 |
|
| 2019 |
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. European Journal of Human Genetics : Ejhg. PMID 30872814 DOI: 10.1038/S41431-019-0372-Y |
0.483 |
|
| 2019 |
Talboom JS, Håberg A, Both MDD, Naymik MA, Schrauwen I, Lewis CR, Bertinelli SF, Hammersland C, Fritz MA, Myers AJ, Hay M, Barnes CA, Glisky E, Ryan L, Huentelman MJ. Author response: Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors Elife. DOI: 10.7554/Elife.46179.018 |
0.323 |
|
| 2018 |
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, et al. Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. Journal of Human Genetics. PMID 30498240 DOI: 10.1038/S10038-018-0542-8 |
0.422 |
|
| 2018 |
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, et al. Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Human Mutation. PMID 30461122 DOI: 10.1002/Humu.23689 |
0.458 |
|
| 2018 |
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, et al. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30395363 DOI: 10.1002/Jbmr.3594 |
0.459 |
|
| 2018 |
Richard EM, Santos-Cortez RL, 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, ... ... Schrauwen I, et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human Mutation. PMID 30303587 DOI: 10.1002/humu.23666 |
0.406 |
|
| 2018 |
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, et al. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30287925 DOI: 10.1038/S41436-018-0300-5 |
0.33 |
|
| 2018 |
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, et al. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science. 59: 4552-4557. PMID 30208423 DOI: 10.1167/Iovs.18-23849 |
0.46 |
|
| 2018 |
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. Journal of Human Genetics. PMID 30177809 DOI: 10.1038/S10038-018-0502-3 |
0.408 |
|
| 2018 |
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, ... ... Schrauwen I, et al. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Human Genetics. PMID 30167849 DOI: 10.1007/S00439-018-1928-6 |
0.472 |
|
| 2018 |
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, ... ... Schrauwen I, et al. 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. American Journal of Medical Genetics. Part A. 176: 1549-1558. PMID 30160831 DOI: 10.1002/Ajmg.A.38712 |
0.391 |
|
| 2018 |
Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. Bmc Medical Genetics. 19: 122. PMID 30029624 DOI: 10.1186/S12881-018-0618-5 |
0.382 |
|
| 2018 |
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. Human Genetics. PMID 29971487 DOI: 10.1007/S00439-018-1899-7 |
0.463 |
|
| 2018 |
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. Seminars in Pediatric Neurology. 26: 28-32. PMID 29961512 DOI: 10.1016/J.Spen.2017.08.008 |
0.465 |
|
| 2018 |
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. Human Genetics. PMID 29955957 DOI: 10.1007/S00439-018-1898-8 |
0.386 |
|
| 2017 |
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. American Journal of Medical Genetics. Part A. PMID 28767196 DOI: 10.1002/Ajmg.A.38385 |
0.365 |
|
| 2017 |
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, ... ... Schrauwen I, et al. Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000research. 6: 553. PMID 28663785 DOI: 10.12688/F1000Research.10588.1 |
0.446 |
|
| 2017 |
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. PMID 28380666 DOI: 10.1002/Hipo.22731 |
0.326 |
|
| 2017 |
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, ... ... Schrauwen I, et al. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. American Journal of Medical Genetics. Part A. PMID 28139025 DOI: 10.1002/Ajmg.A.38069 |
0.393 |
|
| 2016 |
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, ... ... Schrauwen I, et al. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. Cold Spring Harbor Molecular Case Studies. 2: a000851. PMID 27626064 DOI: 10.1101/mcs.a000851 |
0.338 |
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| 2016 |
Nishio SY, Schrauwen I, Moteki H, Azaiez H. Advances in Molecular Genetics and the Molecular Biology of Deafness. Biomed Research International. 2016: 5629093. PMID 27525271 DOI: 10.1155/2016/5629093 |
0.417 |
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| 2016 |
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, ... ... Schrauwen I, et al. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. PMID 27164704 DOI: 10.1212/Wnl.0000000000002740 |
0.305 |
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| 2016 |
You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, 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. American Journal of Human Genetics. PMID 27132593 DOI: 10.1016/J.Ajhg.2016.03.014 |
0.399 |
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| 2016 |
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, et al. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined With a Mutation Classification System. Human Mutation. PMID 27068579 DOI: 10.1002/Humu.22999 |
0.474 |
|
| 2015 |
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. F1000research. 4: 912. PMID 26535115 DOI: 10.12688/F1000Research.7106.1 |
0.388 |
|
| 2015 |
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. Hearing Research. PMID 26341477 DOI: 10.1016/J.Heares.2015.08.013 |
0.332 |
|
| 2015 |
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. 10: e0131797. PMID 26176221 DOI: 10.1371/Journal.Pone.0131797 |
0.449 |
|
| 2015 |
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, et al. A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. Investigative Ophthalmology & Visual Science. 56: 3896-904. PMID 26091538 DOI: 10.1167/Iovs.14-16261 |
0.389 |
|
| 2015 |
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. European Journal of Human Genetics : Ejhg. 23: 110-5. PMID 24939585 DOI: 10.1038/Ejhg.2014.56 |
0.432 |
|
| 2014 |
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. 9: e113036. PMID 25503791 DOI: 10.1371/Journal.Pone.0113036 |
0.343 |
|
| 2014 |
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. 9: e112755. PMID 25393235 DOI: 10.1371/Journal.Pone.0112755 |
0.386 |
|
| 2014 |
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. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 35: 1058-64. PMID 24643032 DOI: 10.1097/Mao.0000000000000334 |
0.448 |
|
| 2014 |
Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G. Broadening the phenotype of LRP2 mutations: A new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome Clinical Genetics. 86: 282-286. PMID 23992033 DOI: 10.1111/Cge.12265 |
0.456 |
|
| 2014 |
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. Most significantly associated SNPs from genome wide association analysis of Maltese dogs with necrotizing meningoencephalitis. Plos One. DOI: 10.1371/Journal.Pone.0112755.T001 |
0.31 |
|
| 2013 |
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. Neurobiology of Aging. 34: 2077.e11-8. PMID 23582655 DOI: 10.1016/J.Neurobiolaging.2013.02.016 |
0.431 |
|
| 2013 |
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. Journal of Human Genetics. 58: 98-101. PMID 23235334 DOI: 10.1038/Jhg.2012.141 |
0.365 |
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| 2013 |
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. American Journal of Medical Genetics. Part A. 161: 145-52. PMID 23208854 DOI: 10.1002/Ajmg.A.35737 |
0.381 |
|
| 2012 |
Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Seco CZ, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, et al. A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. American Journal of Human Genetics. 91: 636-45. PMID 22981119 DOI: 10.1016/J.Ajhg.2012.08.018 |
0.329 |
|
| 2012 |
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. 510: 102-6. PMID 22975208 DOI: 10.1016/J.Gene.2012.09.006 |
0.464 |
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| 2012 |
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. American Journal of Medical Genetics. Part A. 158: 1066-70. PMID 22489040 DOI: 10.1002/Ajmg.A.35276 |
0.399 |
|
| 2011 |
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. Annals of Human Genetics. 75: 598-604. PMID 21777208 DOI: 10.1111/J.1469-1809.2011.00665.X |
0.4 |
|
| 2011 |
Hildebrand MS, MorÃn M, Meyer NC, Mayo F, Modamio-Hoybjor S, MencÃa A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, ... Schrauwen I, et al. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Human Mutation. 32: 825-34. PMID 21520338 DOI: 10.1002/Humu.21512 |
0.399 |
|
| 2011 |
Weegerink NJ, Schrauwen I, Huygen PL, Pennings RJ, Cremers CW, Van Camp G, Kunst HP. Phenotype of the first otosclerosis family linked to OTSC10. The Laryngoscope. 121: 838-45. PMID 21433022 DOI: 10.1002/Lary.21463 |
0.375 |
|
| 2011 |
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. Investigative Ophthalmology & Visual Science. 52: 4774-9. PMID 21421862 DOI: 10.1167/Iovs.10-7128 |
0.455 |
|
| 2010 |
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. Annals of Human Genetics. 74: 399-405. PMID 20642811 DOI: 10.1111/J.1469-1809.2010.00595.X |
0.437 |
|
| 2010 |
Schrauwen I, Van Camp G. The etiology of otosclerosis: a combination of genes and environment. The Laryngoscope. 120: 1195-202. PMID 20513039 DOI: 10.1002/Lary.20934 |
0.446 |
|
| 2010 |
Schrauwen I, Venken K, Vanderstraeten K, Thys M, Hendrickx JJ, Fransen E, Van Laer L, Govaerts PJ, Verstreken M, Schatteman I, Stinissen P, Hellings N, Van Camp G. Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. Genes and Immunity. 11: 246-53. PMID 20182450 DOI: 10.1038/Gene.2010.3 |
0.349 |
|
| 2010 |
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. Human Genetics. 127: 155-62. PMID 19847460 DOI: 10.1007/S00439-009-0754-2 |
0.398 |
|
| 2009 |
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. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 30: 1079-83. PMID 19503013 DOI: 10.1097/Mao.0B013E3181Ab3058 |
0.368 |
|
| 2009 |
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, et al. A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. American Journal of Human Genetics. 84: 328-38. PMID 19230858 DOI: 10.1016/J.Ajhg.2009.01.023 |
0.45 |
|
| 2009 |
Thys M, Schrauwen I, Vanderstraeten K, Dieltjens N, Fransen E, Ealy M, Cremers CWRJ, Van De Heyning P, Vincent R, Offeciers E, Smith RH, Van Camp G. Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients Annals of Human Genetics. 73: 171-175. PMID 19207109 DOI: 10.1111/J.1469-1809.2009.00505.X |
0.4 |
|
| 2008 |
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. Human Genetics. 123: 267-72. PMID 18224337 DOI: 10.1007/S00439-008-0470-3 |
0.413 |
|
| 2008 |
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, et al. Association of bone morphogenetic proteins with otosclerosis. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 23: 507-16. PMID 18021008 DOI: 10.1359/Jbmr.071112 |
0.422 |
|
| 2007 |
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, et al. The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Human Molecular Genetics. 16: 2021-30. PMID 17588962 DOI: 10.1093/Hmg/Ddm150 |
0.367 |
|
| 2007 |
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. American Journal of Medical Genetics. Part A. 143: 1653-60. PMID 17568407 DOI: 10.1002/Ajmg.A.31806 |
0.498 |
|
| 2007 |
Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. European Journal of Human Genetics : Ejhg. 15: 362-8. PMID 17213839 DOI: 10.1038/Sj.Ejhg.5201761 |
0.429 |
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