| Year |
Citation |
Score |
| 2024 |
Abad C, Robayo MC, Muñiz-Moreno MDM, Bernardi MT, Otero MG, Kosanovic C, Griswold AJ, Pierson TM, Walz K, Young JI. Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning. Translational Psychiatry. 14: 33. PMID 38238293 DOI: 10.1038/s41398-023-02678-x |
0.332 |
|
| 2022 |
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, ... ... Walz K, et al. Mutations in encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Proceedings of the National Academy of Sciences of the United States of America. 119: e2204084119. PMID 35727972 DOI: 10.1073/pnas.2204084119 |
0.331 |
|
| 2021 |
Chen X, Abad C, Chen ZY, Young JI, Gurumurthy CB, Walz K, Liu XZ. Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Human Molecular Genetics. PMID 33791800 DOI: 10.1093/hmg/ddab077 |
0.305 |
|
| 2020 |
Kannan-Sundhari A, Abad C, Maloof ME, Ayad NG, Young JI, Liu XZ, Walz K. Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival. Frontiers in Cell and Developmental Biology. 8: 576654. PMID 33015071 DOI: 10.3389/Fcell.2020.576654 |
0.339 |
|
| 2020 |
Bademci G, Abad C, Cengiz FB, Seyhan S, Incesulu A, Guo S, Fitoz S, Atli EI, Gosstola NC, Demir S, Colbert BM, Seyhan GC, Sineni CJ, Duman D, Gurkan H, ... ... Walz K, et al. Long-range cis-regulatory elements controlling GDF6 expression are essential for cochlear development. The Journal of Clinical Investigation. PMID 32369452 DOI: 10.1172/Jci136951 |
0.384 |
|
| 2019 |
Varon A, Whitt Z, Kalika PM, Potocki L, Barbouth DS, Walz K. Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. American Journal of Medical Genetics. Part A. 179: 1366-1370. PMID 31066191 DOI: 10.1002/Ajmg.A.61187 |
0.344 |
|
| 2019 |
Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, et al. Dysfunction of , encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. Proceedings of the National Academy of Sciences of the United States of America. PMID 30610177 DOI: 10.1073/Pnas.1810951116 |
0.363 |
|
| 2018 |
Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S, Atli EI, Basmak H, Demir S, Nik AM, Footz T, Guo S, ... ... Walz K, et al. FOXF2 is required for cochlear development in humans and mice. Human Molecular Genetics. PMID 30561639 DOI: 10.1093/Hmg/Ddy431 |
0.434 |
|
| 2018 |
Kazmierczak K, Liang J, Yuan CC, Yadav S, Sitbon YH, Walz K, Ma W, Irving TC, Cheah JX, Gomes AV, Szczesna-Cordary D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. fj201801402R. PMID 30365366 DOI: 10.1096/Fj.201801402R |
0.301 |
|
| 2018 |
Diaz-Horta O, Abad C, Cengiz FB, Bademci G, Blackwelder P, Walz K, Tekin M. Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation. Journal of Molecular Medicine (Berlin, Germany). PMID 30280293 DOI: 10.1007/S00109-018-1694-X |
0.37 |
|
| 2018 |
Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, ... ... Walz K, et al. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. Human Genetics. PMID 29982980 DOI: 10.1007/S00439-018-1901-4 |
0.357 |
|
| 2018 |
Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK. A Rare De Novo Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. Biology. 7. PMID 29794985 DOI: 10.3390/Biology7020031 |
0.457 |
|
| 2017 |
Rao NR, Abad C, Perez IC, Srivastava AK, Young JI, Walz K. Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice. Biology. 6. PMID 28448442 DOI: 10.3390/Biology6020025 |
0.342 |
|
| 2016 |
Diaz-Horta O, Abad C, Sennaroglu L, Foster J, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, ... ... Walz K, et al. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice. Proceedings of the National Academy of Sciences of the United States of America. PMID 27162350 DOI: 10.1073/Pnas.1522512113 |
0.361 |
|
| 2015 |
Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Developmental Cell. 32: 31-42. PMID 25556659 DOI: 10.1016/J.Devcel.2014.11.031 |
0.341 |
|
| 2015 |
Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, et al. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Human Genetics. 134: 181-90. PMID 25413698 DOI: 10.1007/S00439-014-1509-2 |
0.415 |
|
| 2014 |
Walz K, Young JI. The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. Rare Diseases (Austin, Tex.). 2: e967151. PMID 26942102 DOI: 10.4161/2167549X.2014.967151 |
0.303 |
|
| 2014 |
Droguett A, Krall P, Burgos ME, Valderrama G, Carpio D, Ardiles L, Rodriguez-Diez R, Kerr B, Walz K, Ruiz-Ortega M, Egido J, Mezzano S. Tubular overexpression of gremlin induces renal damage susceptibility in mice. Plos One. 9: e101879. PMID 25036148 DOI: 10.1371/Journal.Pone.0101879 |
0.319 |
|
| 2014 |
Camarena V, Cao L, Abad C, Abrams A, Toledo Y, Araki K, Araki M, Walz K, Young JI. Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome. Embo Molecular Medicine. 6: 1003-15. PMID 25001218 DOI: 10.15252/Emmm.201404044 |
0.405 |
|
| 2014 |
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, ... Walz K, et al. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proceedings of the National Academy of Sciences of the United States of America. 111: 9864-8. PMID 24958875 DOI: 10.1073/Pnas.1401950111 |
0.331 |
|
| 2014 |
Cao L, Molina J, Abad C, Carmona-Mora P, Cárdenas Oyarzo A, Young JI, Walz K. Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory. Human Molecular Genetics. 23: 1771-82. PMID 24218365 DOI: 10.1093/Hmg/Ddt568 |
0.364 |
|
| 2013 |
Kistler AD, Singh G, Altintas MM, Yu H, Fernandez IC, Gu C, Wilson C, Srivastava SK, Dietrich A, Walz K, Kerjaschki D, Ruiz P, Dryer S, Sever S, Dinda AK, et al. Transient receptor potential channel 6 (TRPC6) protects podocytes during complement-mediated glomerular disease. The Journal of Biological Chemistry. 288: 36598-609. PMID 24194522 DOI: 10.1074/Jbc.M113.488122 |
0.343 |
|
| 2012 |
Carmona-Mora P, Canales CP, Cao L, Perez IC, Srivastava AK, Young JI, Walz K. RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. Plos One. 7: e45155. PMID 23028815 DOI: 10.1371/Journal.Pone.0045155 |
0.396 |
|
| 2012 |
Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. Plos Genetics. 8: e1002713. PMID 22654670 DOI: 10.1371/Journal.Pgen.1002713 |
0.392 |
|
| 2012 |
Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. American Journal of Medical Genetics. Part A. 158: 1579-88. PMID 22639462 DOI: 10.1002/Ajmg.A.35399 |
0.394 |
|
| 2012 |
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. European Journal of Human Genetics : Ejhg. 20: 148-54. PMID 21897445 DOI: 10.1038/Ejhg.2011.167 |
0.444 |
|
| 2012 |
Kerr B, Soto C J, Saez M, Abrams A, Walz K, Young JI. Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. European Journal of Human Genetics : Ejhg. 20: 69-76. PMID 21829232 DOI: 10.1038/Ejhg.2011.145 |
0.463 |
|
| 2011 |
Canales CP, Walz K. Copy number variation and susceptibility to complex traits. Embo Molecular Medicine. 3: 1-4. PMID 21204264 DOI: 10.1002/Emmm.201000111 |
0.318 |
|
| 2010 |
Carmona-Mora P, Walz K. Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. Current Genomics. 11: 607-17. PMID 21629438 DOI: 10.2174/138920210793360952 |
0.454 |
|
| 2010 |
Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. Plos Biology. 8: e1000543. PMID 21124890 DOI: 10.1371/Journal.Pbio.1000543 |
0.446 |
|
| 2010 |
Krall P, Canales CP, Kairath P, Carmona-Mora P, Molina J, Carpio JD, Ruiz P, Mezzano SA, Li J, Wei C, Reiser J, Young JI, Walz K. Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease. Plos One. 5: e12859. PMID 20877463 DOI: 10.1371/Journal.Pone.0012859 |
0.392 |
|
| 2010 |
Carmona-Mora P, Encina CA, Canales CP, Cao L, Molina J, Kairath P, Young JI, Walz K. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome. Bmc Molecular Biology. 11: 63. PMID 20738874 DOI: 10.1186/1471-2199-11-63 |
0.403 |
|
| 2010 |
Kerr B, Silva PA, Walz K, Young JI. Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome. Plos One. 5: e11534. PMID 20634955 DOI: 10.1371/Journal.Pone.0011534 |
0.422 |
|
| 2009 |
Carmona-Mora P, Molina J, Encina CA, Walz K. Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes. Current Genomics. 10: 259-68. PMID 19949547 DOI: 10.2174/138920209788488508 |
0.45 |
|
| 2008 |
Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Human Molecular Genetics. 17: 2486-95. PMID 18469339 DOI: 10.1093/Hmg/Ddn148 |
0.438 |
|
| 2006 |
Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). The Journal of Clinical Investigation. 116: 3035-41. PMID 17024248 DOI: 10.1172/Jci28953 |
0.472 |
|
| 2006 |
Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, Noebels JL. Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. Journal of Child Neurology. 21: 93-8. PMID 16566870 DOI: 10.1177/08830738060210021201 |
0.335 |
|
| 2004 |
Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Human Genetics. 115: 515-24. PMID 15565467 DOI: 10.1007/S00439-004-1187-6 |
0.414 |
|
| 2004 |
Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Human Molecular Genetics. 13: 2613-24. PMID 15459175 DOI: 10.1093/Hmg/Ddh288 |
0.482 |
|
| 2004 |
Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Human Molecular Genetics. 13: 367-78. PMID 14709593 DOI: 10.1093/hmg/ddh044 |
0.373 |
|
| 2004 |
Walz K, Fonseca P, Lupski JR. Animal models for human contiguous gene syndromes and other genomic disorders Genetics and Molecular Biology. 27: 305-320. DOI: 10.1590/S1415-47572004000300001 |
0.442 |
|
| 2003 |
Yan J, Walz K, Nakamura H, Carattini-Rivera S, Zhao Q, Vogel H, Wei N, Justice MJ, Bradley A, Lupski JR. COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast. Molecular and Cellular Biology. 23: 6798-808. PMID 12972600 DOI: 10.1128/Mcb.23.19.6798-6808.2003 |
0.416 |
|
| 2003 |
Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Molecular and Cellular Biology. 23: 3646-55. PMID 12724422 DOI: 10.1128/Mcb.23.10.3646-3655.2003 |
0.435 |
|
| 2002 |
Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Research. 12: 713-28. PMID 11997338 DOI: 10.1101/Gr.73702 |
0.451 |
|
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