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Daryl A. Scott, Ph.D. - Publications

Affiliations: 
2000 University of Iowa, Iowa City, IA 
Area:
Genetics, Audiology, Molecular Biology
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40 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
2023 Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR, Svihovec S, Brown K, ... ... Scott DA, et al. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. American Journal of Medical Genetics. Part A. PMID 37872713 DOI: 10.1002/ajmg.a.63445  0.314
2023 Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, ... ... Scott DA, et al. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. European Journal of Human Genetics : Ejhg. PMID 37673932 DOI: 10.1038/s41431-023-01451-4  0.301
2021 Kim BJ, Zaveri HP, Kundert PN, Jordan VK, Scott TM, Carmichael J, Scott DA. RERE deficiency contributes to the development of orofacial clefts in humans and mice. Human Molecular Genetics. PMID 33772547 DOI: 10.1093/hmg/ddab084  0.306
2021 Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, et al. Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Frontiers in Cell and Developmental Biology. 9: 631428. PMID 33748114 DOI: 10.3389/fcell.2021.631428  0.301
2021 Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, ... ... Scott DA, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics. PMID 33596411 DOI: 10.1016/j.ajhg.2021.01.015  0.3
2019 Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. American Journal of Medical Genetics. Part A. PMID 31883306 DOI: 10.1002/ajmg.a.61466  0.304
2019 Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, et al. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Molecular Autism. 10: 35. PMID 31649809 DOI: 10.1186/S13229-019-0286-0  0.307
2018 McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. Schaaf-Yang syndrome overview: Report of 78 individuals. American Journal of Medical Genetics. Part A. PMID 30302899 DOI: 10.1002/Ajmg.A.40650  0.315
2018 Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, ... ... Scott DA, et al. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. PMID 29330883 DOI: 10.1002/Humu.23400  0.302
2017 Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. Plos One. 12: e0175962. PMID 28414775 DOI: 10.1371/journal.pone.0175962  0.379
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  0.33
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  0.342
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  0.351
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  0.313
2011 Richards EG, Zaveri HP, Wolf VL, Kang SH, Scott DA. Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22. American Journal of Medical Genetics. Part A. 155: 1729-34. PMID 21671376 DOI: 10.1002/ajmg.a.34041  0.307
2009 Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. European Journal of Human Genetics : Ejhg. 17: 1141-7. PMID 19277063 DOI: 10.1038/Ejhg.2009.27  0.337
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  0.343
2007 Klaassens M, Galjaard RJ, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. American Journal of Medical Genetics. Part A. 2204-12. PMID 17702015 DOI: 10.1002/ajmg.a.31892  0.309
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  0.345
2006 Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A. Congenital diaphragmatic hernia associated with duplication of 11q23-qter. American Journal of Medical Genetics. Part A. 140: 1580-6. PMID 16770801 DOI: 10.1002/Ajmg.A.31321  0.353
2006 Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. Journal of Medical Genetics. 42: 328-35. PMID 15805160 DOI: 10.1136/Jmg.2004.028258  0.34
2005 Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Congenital diaphragmatic hernia in WAGR syndrome. American Journal of Medical Genetics. Part A. 134: 430-3. PMID 15779010 DOI: 10.1002/ajmg.a.30654  0.33
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  0.506
2000 Scott DA, Sheffield VC. DFNB11. Advances in Oto-Rhino-Laryngology. 56: 168-70. PMID 10868230  0.548
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 DOI: 10.1093/Hmg/9.11.1709  0.581
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  0.627
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 DOI: 10.1152/Ajpcell.2000.278.1.C207  0.325
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  0.573
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  0.516
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  0.657
1998 Greinwald JH, Wayne S, Chen AH, Scott DA, Zbar RI, Kraft ML, Prasad S, Ramesh A, Coucke P, Srisailapathy CR, Lovett M, Van Camp G, Smith RJ. Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31. American Journal of Medical Genetics. 78: 107-13. PMID 9674898 DOI: 10.1002/(Sici)1096-8628(19980630)78:2<107::Aid-Ajmg2>3.0.Co;2-L  0.543
1998 Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, et al. Two frequent missense mutations in Pendred syndrome. Human Molecular Genetics. 7: 1099-104. PMID 9618166 DOI: 10.1093/Hmg/7.7.1099  0.463
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  0.634
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  0.638
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 DOI: 10.1101/Gr.7.9.879  0.611
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  0.638
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  0.61
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 DOI: 10.1093/Hmg/5.10.1689  0.622
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  0.604
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  0.506
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