Results 221 to 230 of about 1,021,105 (352)

Review for "Identification of a Dominant <i>MYH11</i> Causal Variant in Chronic Intestinal Pseudo‐Obstruction: Results of Whole‐Exome Sequencing"

, 2019

openalex   +1 more source

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency [PDF]

, 2020
Craig D. Platt, Fatima Zaman, Wayne Bainter, Kelsey Stafstrom, Abuarahman Almutairi, Margot Reigle, Sabrina Weeks, Raif S. Geha, Janet Chou   +8 more
openalex   +1 more source

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet, 2019
J. Lord, D. McMullan, R. Y. Eberhardt, G. Rinck, S. Hamilton, E. Quinlan-Jones, E. Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, S. Robart, Ian R Berry, K. Chandler, D. Cilliers, L. Cresswell, S. Edwards, C. Gardiner, A. Henderson, S. Holden, T. Homfray, T. Lester, R. Lewis, R. Newbury-Ecob, K. Prescott, O. Quarrell, S. Ramsden, E. Roberts, Dagmar Tapon, Madeleine J Tooley, P. Vasudevan, A. Weber, D. Wellesley, P. Westwood, H. White, M. Parker, Denise Williams, L. Jenkins, R. Scott, M. Kilby, L. Chitty, M. Hurles, E. Maher, M. Bateman, Ian R Berry, Sunayna Best, Carolyn Campbell, Jennie Campbell, Georgina K. Carey, K. Chandler, L. Chitty, D. Cilliers, K. Cohen, E. Collingwood, Panayiotis Constantinou, L. Cresswell, C. Delmege, R. Y. Eberhardt, S. Edwards, Richard Ellis, Jerry Evans, Thomas Everett, Clare F Pinto, N. Forrester, Emma Fowler, C. Gardiner, S. Hamilton, K. Healey, A. Henderson, S. Holden, T. Homfray, Rebecca Hudson, M. Hurles, L. Jenkins, Rebecca Keelagher, M. Kilby, T. Lester, R. Lewis, J. Lord, E. Maher, T. Marton, D. McMullan, S. Mehta, Rhiannon Mellis, R. Newbury-Ecob, Soo-Mi Park, M. Parker, K. Prescott, E. Prigmore, O. Quarrell, E. Quinlan-Jones, S. Ramsden, G. Rinck, S. Robart, E. Roberts, Jay F Rowland, R. Scott, James Steer, Dagmar Tapon, E. Taylor, Madeleine J Tooley, P. Vasudevan, A. Weber, D. Wellesley, P. Westwood, H. White, Denise Williams, Elizabeth Wilson   +107 more
semanticscholar   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Detection of Chromosomal Aneuploidy Using Exome Sequencing. [PDF]

Genes (Basel)
Al-Hamed MH, Maddirevula S, Moghrabi N, Aldahmesh MA, Alfalah AH, Khouj E, Altuwaijri N, Alhossiny M, Imtiaz F, Alfares A.   +9 more
europepmc   +1 more source

MOESM1 of Validation of computational determination of microsatellite status using whole exome sequencing data from colorectal cancer patients

, 2019
Amanda Johansen, Christine G. Kassentoft, Michael Knudsen, Maria Laursen, Anders Madsen, Lene Hjerrild Iversen, KĂĽre Sunesen, Mads Kirchheiner Rasmussen, Claus L. Andersen   +8 more
openalex   +1 more source

Whole‐exome sequencing for variant discovery in blepharospasm [PDF]

, 2018
Jun Tian, Satya R. Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska, Zbigniew K. Wszołek, Kathleen D. Kennelly, Ryan J. Uitti, Jay A. van Gerpen, Peter Hedera, Elizabeth J. Trimble, Mark S. LeDoux   +14 more
openalex   +1 more source

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Nature Medicine, 2020
S. Jin, W. Dong, Adam J. Kundishora, Shreyas Panchagnula, A. Moreno-De-Luca, C. Furey, A. Allocco, R. Walker, C. Nelson-Williams, H. Smith, Ashley Dunbar, Sierra B Conine, Q. Lu, Xue Zeng, M. Sierant, James R. Knight, W. Sullivan, P. Duy, T. DeSpenza, Benjamin C. Reeves, J. Karimy, A. Marlier, C. Castaldi, Irina R. Tikhonova, Boyang Li, H. P. Peña, J. Broach, E. Kabachelor, P. Ssenyonga, C. Hehnly, Liping Ge, B. Keren, Andrew T. Timberlake, J. Goto, F. Mangano, J. Johnston, W. Butler, B. Warf, E. Smith, S. Schiff, D. Limbrick, G. Heuer, E. Jackson, B. Iskandar, Shrikant Mane, S. Haider, B. Guclu, Yaşar Bayri, Yener Şahin, C. Duncan, M. Apuzzo, M. Diluna, E. Hoffman, N. Šestan, L. Ment, S. Alper, K. Bilguvar, D. Geschwind, Murat Günel, R. Lifton, K. Kahle   +60 more
semanticscholar   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Whole-exome sequencing in pediatric patients with glomerulonephritis. [PDF]

Front Genet
Peric M, Brankovic M, Stajic N, Putnik J, Paripovic A, Jankovic M, Nikolic D, Milanovic F, Novakovic I, Vukomanovic V.   +9 more
europepmc   +1 more source