Search Results - "Sneddon, Tam"

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource by Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.

“…With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these…”
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WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype by Sneddon, Tam P, Gilmore, Kelly L, Xiong, Mai, Weck, Karen E, Powell, Bradford C, Vora, Neeta L

“…Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on…”
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Diagnoses of uncertain significance: kidney genetics in the 21st century by Gale, Daniel P., Mallett, Andrew, Patel, Chirag, Sneddon, Tam P., Rehm, Heidi L., Sampson, Matthew G., Bockenhauer, Detlef

“…The increasing availability of sequencing has accelerated the discovery of genetic causes of kidney disease, with clear benefits for patients. However,…”
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A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization by Li, Leping, Perera, Lalith, Varghese, Sonia A, Shiloh-Malawsky, Yael, Hunter, Senyene E, Sneddon, Tam P, Powell, Cynthia M, Matera, A Gregory, Fan, Zheng

“…The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 ( ). We report a case in…”
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GigaDB: announcing the GigaScience database by Sneddon, Tam P, Li, Peter, Edmunds, Scott C

“…With the launch of GigaScience journal, here we provide insight into the accompanying database GigaDB, which allows the integration of manuscript publication…”
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P825: GENYSIS: A novel core facility for clinical evaluation of research genomic sequence by Powell, Bradford, Foss, Kimberly, Hutchins, Elizabeth, Xiong, Mai, Sneddon, Tam

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The human gamma-glutamyltransferase gene family by Heisterkamp, Nora, Groffen, John, Warburton, David, Sneddon, Tam P.

“…Assays for gamma-glutamyl transferase (GGT1, EC 2.3.2.2) activity in blood are widely used in a clinical setting to measure tissue damage. The…”
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels by Riggs, Erin Rooney, Bingaman, Taylor I., Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R., Dharmadhikari, Avinash V., Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R., Hughes, Madeline Y., Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin M., Mohan, Shruthi, Osei-Owusu, Ikeoluwa A., Reble, Emma, Rennie, Olivia, Savatt, Juliann M., Shimelis, Hermela, Siegert, Rebecca K., Sneddon, Tam P., Thaxton, Courtney, Toner, Kelly A., Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H., Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David T., Schaaf, Christian P.

“…Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity,…”
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HGNC Database in 2008: a resource for the human genome by Bruford, Elspeth A, Lush, Michael J, Wright, Mathew W, Sneddon, Tam P, Povey, Sue, Birney, Ewan

“…The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique and ideally meaningful name and symbol to every human gene. The HGNC database currently…”
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P735: Structural variant analysis unveils loss-of-function promoter deletion in candidate gene WDR44 by Sneddon, Tam, Xiong, Mai, Gilmore, Kelly, Weck, Karen, Powell, Bradford, Vora, Neeta

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HUGO Gene Nomenclature Database, 2006 updates by Eyre, Tina A, Ducluzeau, Fabrice, Sneddon, Tam P, Povey, Sue, Bruford, Elspeth A, Lush, Michael J

“…The HUGO Gene Nomenclature Committee (HGNC) aims to give every human gene a unique and ideally meaningful name and symbol. The HGNC database, previously known…”
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Public data archives for genomic structural variation by Church, Deanna M, Flicek, Paul, Lappalainen, Ilkka, Sneddon, Tam P, Hinton, Jonathan, Maguire, Michael, Lopez, John, Garner, John, Paschall, Justin, DiCuccio, Michael, Yaschenko, Eugene, Scherer, Stephen W, Feuk, Lars

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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein by Harris, Peter C, Ward, Christopher J, Hogan, Marie C, Rossetti, Sandro, Walker, Denise, Sneddon, Tam, Wang, Xiaofang, Kubly, Vicky, Cunningham, Julie M, Bacallao, Robert, Ishibashi, Masahiko, Milliner, Dawn S, Torres, Vicente E

“…Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of…”
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GigaDB: promoting data dissemination and reproducibility by Sneddon, Tam P, Zhe, Xiao Si, Edmunds, Scott C, Li, Peter, Goodman, Laurie, Hunter, Christopher I

“…Often papers are published where the underlying data supporting the research are not made available because of the limitations of making such large data sets…”
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Online resources for genomic structural variation by Sneddon, Tam P, Church, Deanna M

“…Genomic structural variation (SV) can be thought of on a continuum from a single base pair insertion/deletion (INDEL) to large megabase-scale rearrangements…”
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eP068: Homozygous SMN1 single nucleotide variant in a patient with SMA type 0 by Jalazo, Elizabeth, Adams, Michael, Felton, Thomas, Sneddon, Tam, Powell, Cynthia

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Long-read genome sequencing identifies causal structural variation in a Mendelian disease by Merker, Jason D., Wenger, Aaron M., Sneddon, Tam, Grove, Megan, Zappala, Zachary, Fresard, Laure, Waggott, Daryl, Utiramerur, Sowmi, Hou, Yanli, Smith, Kevin S., Montgomery, Stephen B., Wheeler, Matthew, Buchan, Jillian G., Lambert, Christine C., Eng, Kevin S., Hickey, Luke, Korlach, Jonas, Ford, James, Ashley, Euan A.

“…Current clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural…”
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eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male by Sneddon, Tam, Pendleton, Ashley, Pandya, Arti, Kaiser-Rogers, Kathleen, Ramkissoon, Lori

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A rare case of mosaicism for a digynic triploid cell line in an 8-year-old male by Sneddon, Tam, Pendleton, Ashley, Ramkissoon, Lori, Powell, Cynthia, Kaiser-Rogers, Kathleen

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eP380 - A rare case of mosaicism for a digynic triploid cell line in an 8-year-old male by Sneddon, Tam, Pendleton, Ashley, Ramkissoon, Lori, Powell, Cynthia, Kaiser-Rogers, Kathleen

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