Daryl A. Scott, Ph.D. - Publications

Affiliations: 
2000 University of Iowa, Iowa City, IA 
Area:
Genetics, Audiology, Molecular Biology

42 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, ... ... Scott DA, et al. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Human Genetics. PMID 27681385 DOI: 10.1007/s00439-016-1731-1  0.64
2016 Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, ... ... Scott DA, et al. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. American Journal of Human Genetics. PMID 27087320 DOI: 10.1016/j.ajhg.2016.03.002  0.64
2015 Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. The Application of Clinical Genetics. 8: 189-200. PMID 26345236 DOI: 10.2147/TACG.S65698  0.64
2015 Bagherie-Lachidan M, Reginensi A, Zaveri HP, Scott DA, Helmbacher F, McNeill H. Stromal Fat4 acts non-autonomously with Dachsous1/2 to restrict the nephron progenitor pool. Development (Cambridge, England). PMID 26116661 DOI: 10.1242/dev.122648  0.64
2015 Jordan VK, Rosenfeld JA, Lalani SR, Scott DA. Duplication of HEY2 in cardiac and neurologic development. American Journal of Medical Genetics. Part A. PMID 25832314 DOI: 10.1002/ajmg.a.37086  0.64
2015 Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, ... Scott DA, et al. FBN1 contributing to familial congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A. 167: 831-6. PMID 25736269 DOI: 10.1002/ajmg.a.36960  0.64
2014 Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 347-55. PMID 24651602 DOI: 10.1038/gim.2014.2  0.64
2014 Kim BJ, Scott DA. Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells. Plos One. 9: e87518. PMID 24466353 DOI: 10.1371/journal.pone.0087518  0.64
2014 Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. Plos One. 9: e85600. PMID 24454898 DOI: 10.1371/journal.pone.0085600  0.64
2013 Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, et al. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Human Molecular Genetics. 22: 4339-48. PMID 23773997 DOI: 10.1093/hmg/ddt283  0.64
2013 Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Research. 23: 1395-409. PMID 23657883 DOI: 10.1101/gr.152454.112  0.64
2012 Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Human Genetics. 131: 1895-910. PMID 22890305 DOI: 10.1007/s00439-012-1216-9  0.64
2012 Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, ... Scott DA, et al. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Human Molecular Genetics. 21: 4115-25. PMID 22723016 DOI: 10.1093/hmg/dds241  0.64
2012 Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. American Journal of Medical Genetics. Part A. 158: 1785-7. PMID 22639458 DOI: 10.1002/ajmg.a.35391  0.64
2011 Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, ... ... Scott DA, et al. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. Journal of Medical Genetics. 48: 299-307. PMID 21525063 DOI: 10.1136/jmg.2011.089680  0.64
2011 Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, et al. Phenotypic manifestations of copy number variation in chromosome 16p13.11. European Journal of Human Genetics : Ejhg. 19: 280-6. PMID 21150890 DOI: 10.1038/ejhg.2010.184  0.64
2010 Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 1042-51. PMID 20333642 DOI: 10.1002/ajmg.b.31071  0.64
2010 Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA. Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. American Journal of Medical Genetics. Part A. 152: 453-8. PMID 20101693 DOI: 10.1002/ajmg.a.33227  0.64
2010 Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics. 47: 332-41. PMID 19914906 DOI: 10.1136/jmg.2009.073015  0.64
2009 Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. American Journal of Medical Genetics. Part A. 149: 1661-77. PMID 19606479 DOI: 10.1002/ajmg.a.32896  0.64
2008 Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, et al. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. American Journal of Medical Genetics. Part A. 146: 453-8. PMID 18203189 DOI: 10.1002/ajmg.a.31750  0.64
2007 Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. American Journal of Medical Genetics. Part A. 143: 1679-86. PMID 17607705 DOI: 10.1002/ajmg.a.31740  0.64
2007 Scott DA. Genetics of congenital diaphragmatic hernia. Seminars in Pediatric Surgery. 16: 88-93. PMID 17462560 DOI: 10.1053/j.sempedsurg.2007.01.003  0.64
2007 Holder AM, Graham BH, Lee B, Scott DA. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. American Journal of Medical Genetics. Part A. 143: 2576-80. PMID 17394214 DOI: 10.1002/ajmg.a.31688  0.64
2007 Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Human Molecular Genetics. 16: 424-30. PMID 17210672 DOI: 10.1093/hmg/ddl475  0.64
2007 Li C, Scott DA, Hatch E, Tian X, Mansour SL. Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development. Development (Cambridge, England). 134: 167-76. PMID 17164422 DOI: 10.1242/dev.02701  0.64
2002 Green GE, Scott DA, McDonald JM, Teagle HF, Tomblin BJ, Spencer LJ, Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJ. Performance of cochlear implant recipients with GJB2-related deafness. American Journal of Medical Genetics. 109: 167-70. PMID 11977173 DOI: 10.1002/ajmg.10330  0.64
2000 Scott DA, Sheffield VC. DFNB11. Advances in Oto-Rhino-Laryngology. 56: 168-70. PMID 10868230  0.64
2000 Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Human Molecular Genetics. 9: 1709-15. PMID 10861298  0.64
2000 Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A, Elbedour K, Srikumari Srisailapathy CR, Keats BJ, Sheffield VC, Smith RJ. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene. 246: 265-74. PMID 10767548 DOI: 10.1016/S0378-1119(00)00090-1  0.64
2000 Scott DA, Karniski LP. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange American Journal of Physiology - Cell Physiology. 278. PMID 10644529  0.64
1999 Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Jama. 281: 2211-6. PMID 10376574 DOI: 10.1001/jama.281.23.2211  0.64
1999 Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genetics. 21: 440-3. PMID 10192399 DOI: 10.1038/7783  0.64
1998 Scott DA, Greinwald JH, Marietta JR, Drury S, Swiderski RE, Viñas A, DeAngelis MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA, Srikumari Srisailapathy CR, Verhoeven K, et al. Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. Gene. 215: 461-9. PMID 9758550 DOI: 10.1016/S0378-1119(98)00316-3  0.64
1998 Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Human Mutation. 11: 387-94. PMID 9600457 DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8  0.64
1998 Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ. Connexin mutations and hearing loss. Nature. 391: 32. PMID 9422505 DOI: 10.1038/34079  0.64
1997 Greinwald JH, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, et al. Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Genome Research. 7: 879-86. PMID 9314493  0.64
1997 Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, Van Hauwe P, Zbar RI, Ashley J, Lovett M, Van Camp G, Smith RJ. New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. American Journal of Medical Genetics. 71: 467-71. PMID 9286457 DOI: 10.1002/(SICI)1096-8628(19970905)71:4<467::AID-AJMG18>3.0.CO;2-E  0.64
1997 Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Human Molecular Genetics. 6: 1491-7. PMID 9285786 DOI: 10.1093/hmg/6.9.1491  0.64
1996 Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Human Molecular Genetics. 5: 1689-92. PMID 8894709  0.64
1996 Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. American Journal of Human Genetics. 59: 385-91. PMID 8755925  0.64
1995 Scott DA, Carmi R, Elbedour K, Duyk GM, Stone EM, Sheffield VC. Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. American Journal of Human Genetics. 57: 965-8. PMID 7573061  0.64
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