Search Results - "Rojas, Samantha"

Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1 by Kovesi, Thomas, Rojas, Samantha K., Boycott, Kym M.

“…PIEZO1 is required for lymphatic valve formation, and several lymphatic abnormalities have been reported to be associated with autosomal recessive PIEZO1…”
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Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada by Rojas, Samantha K, Adam, Shelin, Elliott, Alison M, Zawati, Ma'n H

“…Advances in medical genetics have led to a significant increase in demand for genetic services and expertise across almost all medical specialties. Genetic…”
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The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience by Ediae, Grace Uwaila, Lemire, Gabrielle, Chisholm, Caitlin, Hartley, Taila, Eaton, Alison, Osmond, Matthew, Rojas, Samantha K., Huang, Lijia, Gillespie, Meredith, Sawyer, Sarah L., Boycott, Kym M.

“…The introduction of clinical exome sequencing (ES) has provided a unique opportunity to decrease the diagnostic odyssey for patients living with a rare genetic…”
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The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM by Hartley, Taila, Balcı, Tuğçe B., Rojas, Samantha K., Eaton, Alison, Canada, Care4Rare, Dyment, David A., Boycott, Kym M.

“…For years, the genetics community has estimated the number of individual rare genetic diseases to be approximately 6,000–8,000. A commonly quoted derivation of…”
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p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy by Kernohan, Kristin D., McBride, Arran, Hartley, Taila, Rojas, Samantha K., Dyment, David A., Boycott, Kym M., Dyack, Sarah

“…The p21‐activated kinase (PAK) family of proteins function as key effectors of RHO family GTPases in mammalian cells to regulate many pathways including…”
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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities by Bend, Renee, Cohen, Lior, Carter, Melissa T, Lyons, Michael J, Niyazov, Dmitriy, Mikati, Mohamad A, Rojas, Samantha K, Person, Richard E, Si, Yue, Wentzensen, Ingrid M, Torti, Erin, Lee, Jennifer A, Boycott, Kym M, Basel-Salmon, Lina, Ferreira, Carlos R, Gonzaga-Jauregui, Claudia

“…PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA…”
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Stabilizing Proteins from Sequence Statistics: The Interplay of Conservation and Correlation in Triosephosphate Isomerase Stability by Sullivan, Brandon J., Nguyen, Tran, Durani, Venuka, Mathur, Deepti, Rojas, Samantha, Thomas, Miriam, Syu, Trixy, Magliery, Thomas J.

“…Understanding the determinants of protein stability remains one of protein science's greatest challenges. There are still no computational solutions that…”
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Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus by Slim, Rima, Fisher, Rosemary, Milhavet, Florian, Hemida, Reda, Rojas, Samantha, Rittore, Cécile, Bagga, Rashmi, Aguinaga, Monica, Touitou, Isabelle

“…Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive growth of placental trophoblasts and abnormal early embryonic development…”
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Is the Epworth Sleepiness Scale Sufficient to Identify the Excessively Sleepy Subtype of OSA? by Mazzotti, Diego R., Keenan, Brendan T., Thorarinsdottir, Elin H., Gislason, Thorarinn, Pack, Allan I., Pack, Allan I., Schwab, Richard, Maislin, Greg, Keenan, Brendan T., Jafari, Niusha, Boland, Mary, Pack, Francis, Kim, Jinyoung, Magalang, Ulysses J., Mindel, Jesse, Lyons, M. Melanie, Holfinger, Steven, Rojas, Samantha, Laurent, Devin, Gonzalez Zacarias, Alicia, Gislason, Thorarinn, Benediktsdottir, Bryndis, Penzel, Thomas, Sanner, Bernd, Fietze, Ingo, Franczyk, Maria, Laharnar, Naima, Qin, Hua, Han, Fang, Xu, Adele Liyue, Guo, Jing Jing, Li, Qing Yun, Lin, Yingni, Chen, Ning-hung, Chuang, Li-Pang, Lin, Yu-Sheng, Lin, Shih-Wei, Huang, Hung-Yu, Cistulli, Peter A., deChazal, Philip, Sutherland, Kate, Singh, Bhajan, McArdle, Nigel, Eastwood, Peter, Mazzotti, Diego, Veatch, Olivia, Lim, Diane

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0038 Sleeping with Low Levels of Artificial Light at Night Increases Systemic Inflammation in Humans by Mindel, Jesse W, Rojas, Samantha L, Kline, David, Bao, Shengying, Rezai, Ali, Corrigan, John D, Nelson, Randy J, D, Ph, Magalang, Ulysses J

“…Introduction Artificial light at night (ALAN) has become a ubiquitous part of our society. Animal studies have shown that ALAN exposure promotes a…”
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Channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy (1719) by Gauquelin, Laurence, Hartley, Taila, Tarnopolsky, Mark, Dyment, David A., Brais, Bernard, Geraghty, Michael T., Tétreault, Martine, Ahmed, Sohnee, Rojas, Samantha, Choquet, Karine, Majewski, Jacek, Bernier, Francois, Innes, A Micheil, Rouleau, Guy, Suchowersky, Oksana, Boycott, Kym M., Yoon, Grace

“…Abstract only…”
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MRI-based methodology to monitor the impact of positional changes on the airway caliber in obstructive sleep apnea patients by Nguyen, Huyen T., Magalang, Ulysses, Abduljalil, Amir, Elias, Saba, Schmalbrock, Petra, Chandrasekaran, Preethi, Rojas, Samantha, Emmons, Kirsten, Ribble, David, Knopp, Michael V.

“…To develop a non-invasive MRI-based methodology to visually and quantitatively assess the impact of head and chest rotations on the airway caliber. An MRI…”
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Prevalencia de enfermedades de la mucosa oral registradas entre 2014-2018 en un hospital docente en Perú by Suarez-Rojas, Yuvicxa Samantha, Romero Gamboa, Julio Cësar, La Serna Solari, Paola Beatriz

“…Objective: To determine the prevalence of diseases of the oral mucosa in the dental service of the regional teaching hospital Las Mercedes Chiclayo, 2014–2018…”
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study by Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M., Hayeems, Robin, Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

“…To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. We prospectively…”
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CPAP Treatment and Cardiovascular Prevention: An Alternate Study Design That Includes Excessively Sleepy Patients by Singh, Bhajan, Maislin, Greg, Keenan, Brendan T., McArdle, Nigel, Mazzotti, Diego R., Magalang, Ulysses, Pack, Allan I., Pack, Allan I., Schwab, Richard, Lim, Diane C., Maislin, Greg, Keenan, Brendan T., Veatch, Olivia J., Mazzotti, Diego, Boland, Mary, Pack, Francis, Kim, Jinyoung, Magalang, Ulysses J., Mindel, Jesse, Lyons, M. Melanie, Holfinger, Steven, Rojas, Samantha, Gislason, Thorarinn, BenediktsdLttir, BryndSs, Penzel, Thomas, Sanner, Bernd, Fietze, Ingo, Franczyk, Maria, Laharnar, Naima, Qin, Hua, Han, Fang, Xu, Adele Liyue, Guo, Jing Jing, Li, Qing Yun, Lin, Yingni, Chen, Ning-hung, Chuang, Li-Pang, Lin, Yu-Sheng, Lin, Shih-Wei, Huang, Hung-Yu, Shin, Chol, Lee, Seung Ku, Cistulli, Peter A., deChazal, Philip, Sutherland, Kate, Singh, Bhajan, McArdle, Nigel, Eastwood, Peter

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A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters by Espinosa-Herrera, Fernando, Espín, Estefanía, Tito-Álvarez, Ana M, Beltrán, Leonardo-J, Gómez-Correa, Diego, Burgos, German, Llamos, Arianne, Zurita, Camilo, Rojas, Samantha, Dueñas-Espín, Iván, Cueva-Ludeña, Kenny, Salazar-Vega, Jorge, Pinto-Basto, Jorge

“…Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The…”
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CPAP Treatment and Cardiovascular Prevention by Singh, Bhajan, Maislin, Greg, Keenan, Brendan T., McArdle, Nigel, Mazzotti, Diego R., Magalang, Ulysses, Pack, Allan I., Schwab, Richard, Lim, Diane C., Veatch, Olivia J., Mazzotti, Diego, Boland, Mary, Pack, Francis, Kim, Jinyoung, Magalang, Ulysses J., Mindel, Jesse, Lyons, M. Melanie, Holfinger, Steven, Rojas, Samantha, Gislason, Thorarinn, BenediktsdLttir, BryndSs, Penzel, Thomas, Sanner, Bernd, Fietze, Ingo, Franczyk, Maria, Laharnar, Naima, Qin, Hua, Han, Fang, Xu, Adele Liyue, Guo, Jing Jing, Li, Qing Yun, Lin, Yingni, Chen, Ning-hung, Chuang, Li-Pang, Lin, Yu-Sheng, Lin, Shih-Wei, Huang, Hung-Yu, Shin, Chol, Lee, Seung Ku, Cistulli, Peter A., deChazal, Philip, Sutherland, Kate, Eastwood, Peter

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Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy by Gauquelin, Laurence, Hartley, Taila, Tarnopolsky, Mark, Dyment, David A., Brais, Bernard, Geraghty, Michael T., Tétreault, Martine, Ahmed, Sohnee, Rojas, Samantha, Choquet, Karine, Majewski, Jacek, Bernier, François, Innes, Allan Micheil, Rouleau, Guy, Suchowersky, Oksana, Boycott, Kym M., Yoon, Grace

“…ABSTRACT Background Cerebellar atrophy is a nonspecific imaging finding observed in a number of neurological disorders. Genetic ataxias associated with…”
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Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1 by Kovesi, Thomas, Rojas, Samantha K, Boycott, Kym M

“…PIEZO1 is required for lymphatic valve formation, and several lymphatic abnormalities have been reported to be associated with autosomal recessive PIEZO1…”
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Pacientes con defectos maxilares en el servicio de prótesis bucomaxilofacial by de Rojas González, Sandra Maray, Rojas González, Samantha Migdalia

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