Center for the Molecular Biology of Neurosensory Systems

2021

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures

Martinelli, A., Rice, M. L., Talcott, J. B., Diaz, R., Smith, S., Raza, M. H., Snowling, M. J., Hulme, C., Stein, J., Hayiou-Thomas, M. E., Hawi, Z., Kent, L., Pitt, S. J., Newbury, D. F. & Paracchini, S., Jun 15 2021, In: Human Molecular Genetics. 30, 12, p. 1160-1171 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., Pourcain, B. S., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Chaix, Y., Iannuzzi, S., Demonet, J. F., Morris, A. P., Hulslander, J., Willcutt, E. G. & DeFries, J. C. & 29 others, Olson, R. K., Smith, S. D., Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Kirsten, H., Müller, B., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B. & Schulte-Körne, G., Jul 2021, In: Molecular Psychiatry. 26, 7, p. 3004-3017 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

61 Scopus citations

2020

Pedigree-based gene mapping supports previous loci and reveals novel suggestive loci in specific language impairment

Andres, E. M., Earnest, K. K., Smith, S. D., Rice, M. L. & Raza, M. H., Dec 2020, In: Journal of Speech, Language, and Hearing Research. 63, 12, p. 4046-4061 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

2019

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K. & Smith, S. D. & 25 others, Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B. & Schulte-Körne, G., Dec 1 2019, In: Translational Psychiatry. 9, 1, 77.

Research output: Contribution to journal › Article › peer-review

Open Access

69 Scopus citations

Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African-American youth

Pediatric, Imaging, Neurocognition, and Genetics Consortium, Aug 1 2019, In: Journal of medical genetics. 56, 8, p. 557-566 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

25 Scopus citations

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Booth, K. T., Askew, J. W., Talebizadeh, Z., Huygen, P. L. M., Eudy, J., Kenyon, J., Hoover, D., Hildebrand, M. S., Smith, K. R., Bahlo, M., Kimberling, W. J., Smith, R. J. H., Azaiez, H. & Smith, S. D., Apr 1 2019, In: Genetics in Medicine. 21, 4, p. 948-954 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

35 Scopus citations

2018

Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders

Devanna, P., Chen, X. S., Ho, J., Gajewski, D., Smith, S. D., Gialluisi, A., Francks, C., Fisher, S. E., Newbury, D. F. & Vernes, S. C., May 1 2018, In: Molecular Psychiatry. 23, 5, p. 1375-1384 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

38 Scopus citations

2017

Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC

Adams, A. K., Smith, S. D., Truong, D. T., Willcutt, E. G., Olson, R. K., DeFries, J. C., Pennington, B. F. & Gruen, J. R., Nov 1 2017, In: Human genetics. 136, 11-12, p. 1395-1405 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus citations

2016

Investigating the effects of copy number variants on reading and language performance

Gialluisi, A., Visconti, A., Willcutt, E. G., Smith, S. D., Pennington, B. F., Falchi, M., DeFries, J. C., Olson, R. K., Francks, C. & Fisher, S. E., 2016, In: Journal of Neurodevelopmental Disorders. 8, 1, 17.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders

Truong, D. T., Shriberg, L. D., Smith, S. D., Chapman, K. L., Scheer-Cohen, A. R., DeMille, M. M. C., Adams, A. K., Nato, A. Q., Wijsman, E. M., Eicher, J. D. & Gruen, J. R., Dec 1 2016, In: Human genetics. 135, 12, p. 1329-1341 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles

Powers, N. R., Eicher, J. D., Miller, L. L., Kong, Y., Smith, S. D., Pennington, B. F., Willcutt, E. G., Olson, R. K., Ring, S. M. & Gruen, J. R., 2016, In: Journal of medical genetics. 53, 3, p. 163-171 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

24 Scopus citations

2015

The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains

Eicher, J. D., Stein, C. M., Deng, F., Ciesla, A. A., Powers, N. R., Boada, R., Smith, S. D., Pennington, B. F., Iyengar, S. K., Lewis, B. A. & Gruen, J. R., Apr 1 2015, In: Genes, Brain and Behavior. 14, 4, p. 377-385 9 p.

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

2014

Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ

Eicher, J. D., Powers, N. R., Miller, L. L., Mueller, K. L., Mascheretti, S., Marino, C., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D., Pennington, B. F., Tomblin, J. B., Ring, S. M. & Gruen, J. R., Jul 2014, In: Human genetics. 133, 7, p. 869-881 13 p.

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

Genome-wide screening for DNA variants associated with reading and language traits

The SLI Consortium, 2014, In: Genes, Brain and Behavior. 13, 7, p. 686-701 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

94 Scopus citations

2013

Dyslexia and Related Communication Disorders

Friend, A., Pennington, B. F., Smith, S. D. & Gilger, J. W., Jan 1 2013, Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier, p. 1-22 22 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

2012

The aromatase gene CYP19A1: Several genetic and functional lines of evidence supporting a role in reading, speech and language

Anthoni, H., Sucheston, L. E., Lewis, B. A., Tapia-Páez, I., Fan, X., Zucchelli, M., Taipale, M., Stein, C. M., Hokkanen, M. E., Castrén, E., Pennington, B. F., Smith, S. D., Olson, R. K., Bruce Tomblin, J., Schulte-Körne, G., Nöthen, M., Schumacher, J., Müller-Myhsok, B., Hoffmann, P. & Gilger, J. W. & 15 others, Hynd, G. W., Nopola-Hemmi, J., Leppanen, P. H. T., Lyytinen, H., Schoumans, J., Nordenskjöld, M., Spencer, J., Stanic, D., Boon, W. C., Simpson, E., Mäkelä, S., Gustafsson, J. Å., Peyrard-Janvid, M., Iyengar, S. & Kere, J., Jul 2012, In: Behavior Genetics. 42, 4, p. 509-527 19 p.

Research output: Contribution to journal › Article › peer-review

57 Scopus citations

2011

A family based association study of DRD4, DAT1, and 5HTT and continuous traits of attention-deficit hyperactivity disorder

Bidwell, L. C., Willcutt, E. G., McQueen, M. B., Defries, J. C., Olson, R. K., Smith, S. D. & Pennington, B. F., Jan 2011, In: Behavior Genetics. 41, 1, p. 165-174 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

42 Scopus citations

Approach to epigenetic analysis in language disorders

Smith, S. D., Dec 2011, In: Journal of Neurodevelopmental Disorders. 3, 4, p. 356-364 9 p.

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

2010

Etiologies and molecular mechanisms of communication disorders

Smith, S. D., Grigorenko, E., Willcutt, E., Pennington, B. F., Olson, R. K. & Defries, J. C., Sep 2010, In: Journal of Developmental and Behavioral Pediatrics. 31, 7, p. 555-563 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Identification of candidate genes for dyslexia susceptibility on chromosome 18

Scerri, T. S., Paracchini, S., Morris, A., MacPhie, I. L., Talcott, J., Stein, J., Smith, S. D., Pennington, B. F., Olson, R. K., deFries, J. C. & Monaco, A. P., 2010, In: PloS one. 5, 10, e13712.

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

Understanding the complex etiologies of developmental disorders: Behavioral and molecular genetic approaches

Willcutt, E. G., Pennington, B. F., Duncan, L., Smith, S. D., Keenan, J. M., Wadsworth, S., Defries, J. C. & Olson, R. K., Sep 2010, In: Journal of Developmental and Behavioral Pediatrics. 31, 7, p. 533-544 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

99 Scopus citations

2009

Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment

Rice, M. L., Smith, S. D. & Gayán, J., 2009, In: Journal of Neurodevelopmental Disorders. 1, 4, p. 264-282 19 p.

Research output: Contribution to journal › Article › peer-review

100 Scopus citations

Detecting incipient inner-ear damage from impulse noise with otoacoustic emissions

Marshall, L., Lapsley Miller, J. A., Heller, L. M., Wolgemuth, K. S., Hughes, L. M., Smith, S. D. & Kopke, R. D., 2009, In: Journal of the Acoustical Society of America. 125, 2, p. 995-1013 19 p.

Research output: Contribution to journal › Article › peer-review

65 Scopus citations

Gene × Environment Interactions in Reading Disability and Attention-Deficit/Hyperactivity Disorder

Pennington, B. F., McGrath, L. M., Rosenberg, J., Barnard, H., Smith, S. D., Willcutt, E. G., Friend, A., DeFries, J. C. & Olson, R. K., Jan 2009, In: Developmental psychology. 45, 1, p. 77-89 13 p.

Research output: Contribution to journal › Article › peer-review

99 Scopus citations

2007

Gene × Environment interactions in speech sound disorder predict language and preliteracy outcomes

McGrath, L. M., Pennington, B. F., Wtllcutt, E. G., Boada, R., Shriberg, L. D. & Smith, S. D., Sep 2007, In: Development and psychopathology. 19, 4, p. 1047-1072 26 p.

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

Genes, language development, and language disorders

Smith, S. D., 2007, In: Mental Retardation and Developmental Disabilities Research Reviews. 13, 1, p. 96-105 10 p.

Research output: Contribution to journal › Review article › peer-review

44 Scopus citations

Neuropsychology and Genetics of Speech, Language, and Literacy Disorders

Peterson, R. L., McGrath, L. M., Smith, S. D. & Pennington, B. F., Jun 2007, In: Pediatric clinics of North America. 54, 3, p. 543-561 19 p.

Research output: Contribution to journal › Review article › peer-review

37 Scopus citations

2006

Breakthroughs in the search for dyslexia candidate genes

McGrath, L. M., Smith, S. D. & Pennington, B. F., Jul 2006, In: Trends in Molecular Medicine. 12, 7, p. 333-341 9 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

63 Scopus citations

Possible involvement of alpha-2A adrenergic receptors in attention deficit hyperactivity disorder: Radioligand binding and polymorphism studies

Deupree, J. D., Smith, S. D., Kratochvil, C. J., Bohac, D., Ellis, C. R., Polaha, J. & Bylund, D. B., Dec 5 2006, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 141, 8, p. 877-884 8 p.

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

2005

Bivariate linkage scan for reading disability and attention-deficit/ hyperactivity disorder localizes pleiotropic loci

Gayán, J., Willcutt, E. G., Fisher, S. E., Francks, C., Cardon, L. R., Olson, R. K., Pennington, B. F., Smith, S. D., Monaco, A. P. & DeFries, J. C., Oct 2005, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 46, 10, p. 1045-1056 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

87 Scopus citations

DCDC2 is associated with reading disability and modulates neuronal development in the brain

Meng, H., Smith, S. D., Hager, K., Held, M., Liu, J., Olson, R. K., Pennington, B. F., DeFriess, J. C., Gelernter, J., O'Reilly-Pol, T., Somlo, S., Skudlarski, P., Shaywitz, S. E., Shaywitz, B. A., Marchione, K., Wang, Y., Paramasivam, M., LoTurco, J. J., Page, G. P. & Gruen, J. R., Nov 22 2005, In: Proceedings of the National Academy of Sciences of the United States of America. 102, 47, p. 17053-17058 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

341 Scopus citations

Linkage of speech sound disorder to reading disability loci

Smith, S. D., Pennington, B. F., Boada, R. & Shriberg, L. D., Oct 2005, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 46, 10, p. 1057-1066 10 p.

Research output: Contribution to journal › Article › peer-review

90 Scopus citations

Planning studies of etiology

Smith, S. D. & Morris, C. A., Jan 2005, In: Applied Psycholinguistics. 26, 1, p. 97-110 14 p.

Research output: Contribution to journal › Review article › peer-review

7 Scopus citations

2004

A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States

Francks, C., Paracchini, S., Smith, S. D., Richardson, A. J., Scerri, T. S., Cardon, L. R., Marlow, A. J., MacPhie, I. L., Walter, J., Pennington, B. F., Fisher, S. E., Olson, R. K., DeFries, J. C., Stein, J. F. & Monaco, A. P., Dec 2004, In: American Journal of Human Genetics. 75, 6, p. 1046-1058 13 p.

Research output: Contribution to journal › Article › peer-review

218 Scopus citations

Joint Analysis of the DRD5 Marker Concludes Association with Attention-Deficit/Hyperactivity Disorder Confined to the Predominantly Inattentive and Combined Subtypes

Lowe, N., Kirley, A., Hawi, Z., Sham, P., Wickham, H., Kratochvil, C. J., Smith, S. D., Lee, S. Y., Levy, F., Kent, L., Middle, F., Rohde, L. A., Roman, T., Tahir, E., Yazgan, Y., Asherson, P., Mil, J., Thapar, A., Payton, A. & Todd, R. D. & 12 others, Stephens, T., Ebstein, R. P., Manor, I., Barr, C. L., Wigg, K. G., Sinke, R. J., Buitelaar, J. K., Smalley, S. L., Nelson, S. F., Biederman, J., Faraone, S. V. & Gill, M., Feb 2004, In: American Journal of Human Genetics. 74, 2, p. 348-356 9 p.

Research output: Contribution to journal › Article › peer-review

176 Scopus citations

Localization and identification of genes affecting language and learning

Smith, S. D., Jun 4 2004, Developmental Language Disorders: From Phenotypes to Etiologies. Lawrence Erlbaum Associates, p. 327-351 25 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter

6 Scopus citations

Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: Linkage and association analyses

Deffenbacher, K. E., Kenyon, J. B., Hoover, D. M., Olson, R. K., Pennington, B. F., DeFries, J. C. & Smith, S. D., Jul 2004, In: Human genetics. 115, 2, p. 128-138 11 p.

Research output: Contribution to journal › Article › peer-review

140 Scopus citations

2003

Hypotonia, congenital hearing loss, and hypoactive labyrinths

Bodensteiner, J. B., Smith, S. D. & Schaefer, B., Mar 1 2003, In: Journal of Child Neurology. 18, 3, p. 171-173 3 p.

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

2002

Differential genetic etiology of reading component processes as a function of IQ

Knopik, V. S., Smith, S. D., Cardon, L., Pennington, B., Gayan, J., Olson, R. K. & DeFries, J. C., 2002, In: Behavior Genetics. 32, 3, p. 181-198 18 p.

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: Quantitative association analysis and positional candidate genes SEMA4F and OTX1

Francks, C., Fisher, S. E., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C. & Monaco, A. P., 2002, In: Psychiatric Genetics. 12, 1, p. 35-41 7 p.

Research output: Contribution to journal › Article › peer-review

63 Scopus citations

Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia

Fisher, S. E., Francks, C., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Cardon, L. R., Ishikawa-Brush, Y., Richardson, A. J., Talcott, J. B., Gayán, J., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., Stein, J. F. & Monaco, A. P., Jan 2002, In: Nature Genetics. 30, 1, p. 86-91 6 p.

Research output: Contribution to journal › Article › peer-review

226 Scopus citations

Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorder

Willcutt, E. G., Pennington, B. F., Smith, S. D., Cardon, L. R., Gayn, J., Knopik, V. S., Olson, R. K. & Defries, J. C., Apr 8 2002, In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 114, 3, p. 260-268 9 p.

Research output: Contribution to journal › Article › peer-review

130 Scopus citations

2001

Etiology of reading difficulties and rapid naming: The Colorado twin study of reading disability

Davis, C. J., Gayán, J., Knopik, V. S., Smith, S. D., Cardon, L. R., Pennington, B. F., Olson, R. K. & Defries, J. C., 2001, In: Behavior Genetics. 31, 6, p. 625-635 11 p.

Research output: Contribution to journal › Article › peer-review

49 Scopus citations

Reading disability and chromosome 6p21.3: Evaluation of MOG as a candidate gene

Smith, S. D., Kelley, P. M., Askew, J. W., Hoover, D. M., Deffenbacher, K. E., Gayán, J., Brower, A. M. & Olson, R. K., 2001, In: Journal of learning disabilities. 34, 6, p. 512-519 8 p.

Research output: Contribution to journal › Review article › peer-review

8 Scopus citations

Relationships between neurologic disorders and hereditary hearing loss

Smith, S. D., 2001, In: Seminars in Pediatric Neurology. 8, 3, p. 147-159 13 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

2000

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

Smith, S. D., Kelley, P. M., Kenyon, J. B. & Hoover, D., 2000, In: Journal of medical genetics. 37, 6, p. 446-448 3 p.

Research output: Contribution to journal › Article › peer-review

128 Scopus citations

1999

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

Kelley, P. M., Abe, S., Askew, J. W., Smith, S. D., Usami, S. I. & Kimberling, W. J., Dec 1 1999, In: Genomics. 62, 2, p. 172-176 5 p.

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

Coucke, P. J., Van Hauwe, P., Kelley, P. M., Kunst, H., Schatteman, I., Van Velzen, D., Meyers, J., Ensink, R. J., Verstreken, M., Declau, F., Marres, H., Kastury, K., Bhasin, S., McGuirt, W. T., Smith, R. J. H., Cremers, C. W. R. J., Van De Heyning, P., Willems, P. J., Smith, S. D. & Van Camp, G., 1999, In: Human Molecular Genetics. 8, 7, p. 1321-1328 8 p.

Research output: Contribution to journal › Article › peer-review

154 Scopus citations

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

Talebizadeh, Z., Kelley, P. M., Askew, J. W., Beisel, K. W. & Smith, S. D., 1999, In: Human mutation. 14, 6, p. 493-501 9 p.

Research output: Contribution to journal › Article › peer-review

58 Scopus citations

Quantitative-trait locus for specific language and reading deficits on chromosome 6p

Gayán, J., Smith, S. D., Cherny, S. S., Cardon, L. R., Fulker, D. W., Brower, A. M., Olson, R. K., Pennington, B. F. & DeFries, J. C., 1999, In: American Journal of Human Genetics. 64, 1, p. 157-164 8 p.

Research output: Contribution to journal › Article › peer-review

228 Scopus citations

Center for the Molecular Biology of Neurosensory Systems

Research output

Search results