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1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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2. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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3. Early administration of umbilical cord blood cells following brief high tidal volume ventilation in preterm sheep: a cautionary tale

Author

Tran, Nhi T., Penny, Tayla R., Chan, Kyra YY., Tang, Tanya, Papagianis, Paris C., Sepehrizadeh, Tara, Nekkanti, Lakshmi, Zahra, Valerie A., Pham, Yen, Yawno, Tamara, Nitsos, Ilias, Kelly, Sharmony B., Thiel, Alison M., de Veer, Michael, Alahmari, Dhafer M., Fahey, Michael C., Jenkin, Graham, Miller, Suzanne L., Galinsky, Robert, Polglase, Graeme R., and McDonald, Courtney A.

Published
2024
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9. A prospective, longitudinal, case–control study to evaluate the neurodevelopment of children from birth to adolescence exposed to COVID-19 in utero

Author

Hill, Rachel A., Malhotra, Atul, Sackett, Vathana, Williams, Katrina, Fahey, Michael, Palmer, Kirsten R., Hunt, Rod W., Darke, Hayley, Lim, Izaak, Newman-Morris, Vesna, Cheong, Jeanie L. Y., Whitehead, Clare, Said, Joanne, Bignardi, Paulo, Muraguchi, Evelin, Fernandes, Jr, Luiz Carlos C., Oliveira, Carlos, and Sundram, Suresh

Published
2023
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11. Reasons for Discontinuing Active Surveillance: Assessment of 21 Centres in 12 Countries in the Movember GAP3 Consortium

Author

Van Hemelrijck, Mieke, Ji, Xi, Helleman, Jozien, Roobol, Monique J, van der Linden, Wim, Nieboer, Daan, Bangma, Chris H, Frydenberg, Mark, Rannikko, Antti, Lee, Lui S, Gnanapragasam, Vincent J, Kattan, Mike W, Trock, Bruce, Ehdaie, Behfar, Carroll, Peter, Filson, Christopher, Kim, Jeri, Logothetis, Christopher, Morgan, Todd, Klotz, Laurence, Pickles, Tom, Hyndman, Eric, Moore, Caroline M, Gnanapragasam, Vincent, Dasgupta, Prokar, Bangma, Chris, Roobol, Monique, Villers, Arnauld, Valdagni, Riccardo, Perry, Antoinette, Hugosson, Jonas, Rubio-Briones, Jose, Bjartell, Anders, Hefermehl, Lukas, Shiong, Lee Lui, Kakehi, Yoshiyuki, Chung, Byung Ha, van der Kwast, Theo, Obbink, Henk, Hulsen, Tim, de Jonge, Cees, Kattan, Mike, Xinge, Ji, Muir, Kenneth, Lophatananon, Artitaya, Fahey, Michael, Steyerberg, Ewout, Zhang, Liying, Santa Olalla, Aida, Beckmann, Kerri, Denton, Brian, Hayen, Andrew, Boutros, Paul, Guo, Wei, Benfante, Nicole, Cowan, Janet, Patil, Dattatraya, Tolosa, Emily, Kim, Tae-Kyung, Mamedov, Alexandre, La Pointe, Vincent, Crump, Trafford, Kimberly-Duffell, Jenna, Santaolalla, Aida, Olivier, Jonathan, Rancati, Tiziana, Ahlgren, Helén, Mascarós, Juanma, Löfgren, Annica, Lehmann, Kurt, Lin, Catherine Han, Hirama, Hiromi, Lee, Kwang Suk, Jenster, Guido, Auvinen, Anssi, Haider, Masoom, van Bochove, Kees, Carter, Ballentine, Gledhill, Sam, Buzza, Mark, and Bruinsma, Sophie

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Aging, Prevention, Urologic Diseases, Cancer, Good Health and Well Being, Aged, Asia, Australia, Biopsy, Cause of Death, Clinical Decision-Making, Databases, Factual, Disease Progression, Early Detection of Cancer, Europe, Humans, Kallikreins, Male, Middle Aged, North America, Patient Dropouts, Predictive Value of Tests, Prostate-Specific Antigen, Prostatic Neoplasms, Risk Assessment, Risk Factors, Time Factors, Watchful Waiting, Prostate cancer, Active surveillance, Discontinuation, Worldwide, Members of the Movember Foundation's Global Action Plan Prostate Cancer Active Surveillance GAP3 consortium, Urology & Nephrology, Clinical sciences
Abstract

BackgroundCareful assessment of the reasons for discontinuation of active surveillance (AS) is required for men with prostate cancer (PCa).ObjectiveUsing Movember's Global Action Plan Prostate Cancer Active Surveillance initiative (GAP3) database, we report on reasons for AS discontinuation.Design, setting, and participantsWe compared data from 10296 men on AS from 21 centres across 12 countries.Outcome measurements and statistical analysisCumulative incidence methods were used to estimate the cumulative incidence rates of AS discontinuation.Results and limitationsDuring 5-yr follow-up, 27.5% (95% confidence interval [CI]: 26.4-28.6%) men showed signs of disease progression, 12.8% (95% CI: 12.0-13.6%) converted to active treatment without evidence of progression, 1.7% (95% CI: 1.5-2.0%) continued to watchful waiting, and 1.7% (95% CI: 1.4-2.1%) died from other causes. Of the 7049 men who remained on AS, 2339 had follow-up for >5yr, 4561 had follow-up for

Published
2019

13. The Temporal Relationship between Blood–Brain Barrier Integrity and Microglial Response following Neonatal Hypoxia Ischemia

Author

Jithoo, Arya, primary, Penny, Tayla R., additional, Pham, Yen, additional, Sutherland, Amy E., additional, Smith, Madeleine J., additional, Petraki, Maria, additional, Fahey, Michael C., additional, Jenkin, Graham, additional, Malhotra, Atul, additional, Miller, Suzanne L., additional, and McDonald, Courtney A., additional

Published
2024
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14. Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy: Advances in Diagnosis and Treatment

Author

Novak, Iona, Morgan, Cathy, Adde, Lars, Blackman, James, Boyd, Roslyn N, Brunstrom-Hernandez, Janice, Cioni, Giovanni, Damiano, Diane, Darrah, Johanna, Eliasson, Ann-Christin, de Vries, Linda S, Einspieler, Christa, Fahey, Michael, Fehlings, Darcy, Ferriero, Donna M, Fetters, Linda, Fiori, Simona, Forssberg, Hans, Gordon, Andrew M, Greaves, Susan, Guzzetta, Andrea, Hadders-Algra, Mijna, Harbourne, Regina, Kakooza-Mwesige, Angelina, Karlsson, Petra, Krumlinde-Sundholm, Lena, Latal, Beatrice, Loughran-Fowlds, Alison, Maitre, Nathalie, McIntyre, Sarah, Noritz, Garey, Pennington, Lindsay, Romeo, Domenico M, Shepherd, Roberta, Spittle, Alicia J, Thornton, Marelle, Valentine, Jane, Walker, Karen, White, Robert, and Badawi, Nadia

Subjects
Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Biomedical Imaging, Cerebral Palsy, Brain Disorders, Prevention, Pediatric, Neurosciences, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Neurological, Child, Early Diagnosis, Early Intervention, Educational, Humans, Infant, Infant, Newborn, Paediatrics and Reproductive Medicine, Pediatrics
Abstract

ImportanceCerebral palsy describes the most common physical disability in childhood and occurs in 1 in 500 live births. Historically, the diagnosis has been made between age 12 and 24 months but now can be made before 6 months' corrected age.ObjectivesTo systematically review best available evidence for early, accurate diagnosis of cerebral palsy and to summarize best available evidence about cerebral palsy-specific early intervention that should follow early diagnosis to optimize neuroplasticity and function.Evidence reviewThis study systematically searched the literature about early diagnosis of cerebral palsy in MEDLINE (1956-2016), EMBASE (1980-2016), CINAHL (1983-2016), and the Cochrane Library (1988-2016) and by hand searching. Search terms included cerebral palsy, diagnosis, detection, prediction, identification, predictive validity, accuracy, sensitivity, and specificity. The study included systematic reviews with or without meta-analyses, criteria of diagnostic accuracy, and evidence-based clinical guidelines. Findings are reported according to the PRISMA statement, and recommendations are reported according to the Appraisal of Guidelines, Research and Evaluation (AGREE) II instrument.FindingsSix systematic reviews and 2 evidence-based clinical guidelines met inclusion criteria. All included articles had high methodological Quality Assessment of Diagnostic Accuracy Studies (QUADAS) ratings. In infants, clinical signs and symptoms of cerebral palsy emerge and evolve before age 2 years; therefore, a combination of standardized tools should be used to predict risk in conjunction with clinical history. Before 5 months' corrected age, the most predictive tools for detecting risk are term-age magnetic resonance imaging (86%-89% sensitivity), the Prechtl Qualitative Assessment of General Movements (98% sensitivity), and the Hammersmith Infant Neurological Examination (90% sensitivity). After 5 months' corrected age, the most predictive tools for detecting risk are magnetic resonance imaging (86%-89% sensitivity) (where safe and feasible), the Hammersmith Infant Neurological Examination (90% sensitivity), and the Developmental Assessment of Young Children (83% C index). Topography and severity of cerebral palsy are more difficult to ascertain in infancy, and magnetic resonance imaging and the Hammersmith Infant Neurological Examination may be helpful in assisting clinical decisions. In high-income countries, 2 in 3 individuals with cerebral palsy will walk, 3 in 4 will talk, and 1 in 2 will have normal intelligence.Conclusions and relevanceEarly diagnosis begins with a medical history and involves using neuroimaging, standardized neurological, and standardized motor assessments that indicate congruent abnormal findings indicative of cerebral palsy. Clinicians should understand the importance of prompt referral to diagnostic-specific early intervention to optimize infant motor and cognitive plasticity, prevent secondary complications, and enhance caregiver well-being.

Published
2017

16. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

Author

Kooshavar, Daniz, primary, Amor, David J, additional, Boggs, Kirsten, additional, Baker, Naomi, additional, Barnett, Christopher, additional, de Silva, Michelle G, additional, Edwards, Samantha, additional, Fahey, Michael C, additional, Marum, Justine E, additional, Snell, Penny, additional, Bozaoglu, Kiymet, additional, Pope, Kate, additional, Mohammad, Shekeeb S, additional, Riney, Kate, additional, Sachdev, Rani, additional, Scheffer, Ingrid E, additional, Schenscher, Sarah, additional, Silberstein, John, additional, Smith, Nicholas, additional, Tom, Melanie, additional, Ware, Tyson L, additional, Lockhart, Paul J, additional, and Leventer, Richard J, additional

Published
2024
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18. Answering the call: co-designing a global trials network for cerebral palsy

Author

Adde, Lars, Arnaud, Catherine, Brandao, Marina, Brochard, Sylvain, Buizer, Annemieke, Craig, Simon, Dan, Bernard, Fahey, Michael, Fairhurst, Charlie, Fehlings, Darcy, Friel, Kathleen, Gross, Paul, Guzzetta, Andrea, Eliasson, Ann-Christin, Høi-Hansen, Christina, Jahnsen, Reidun Birgitta, Johansen, Mette, Mwesige, Angelina Kakooza, Ketelaar, Marjolijn, Lind, Karin, Longo, Egmar, Maimann, Bente, Namara, Maria Mc, Mesterman, Ronit, Mitchell, Jenna, Monbaliu, Elegast, Morgan, Catherine, Newman, Christopher J., Nielsen, Jens Bo, Novak, Iona, Ortibus, Els, Rackauskaite, Gija, Ritterband-Rosenbaum, Anina, Sigurdardottir, Solveig, Snelling, Tom, Shrader, M. Wade, Griffin, Alexandra, Justiniano, Mikkel Damgaard, Webb, Annabel, and Snelling, Thomas

Published
2024
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27. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Author

Amarasekera, Sumudu S C, primary, Hock, Daniella H, additional, Lake, Nicole J, additional, Calvo, Sarah E, additional, Grønborg, Sabine W, additional, Krzesinski, Emma I, additional, Amor, David J, additional, Fahey, Michael C, additional, Simons, Cas, additional, Wibrand, Flemming, additional, Mootha, Vamsi K, additional, Lek, Monkol, additional, Lunke, Sebastian, additional, Stark, Zornitza, additional, Østergaard, Elsebet, additional, Christodoulou, John, additional, Thorburn, David R, additional, Stroud, David A, additional, and Compton, Alison G, additional

Published
2023
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28. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Author

Amarasekera, Sumudu S.C., Hock, Daniella H., Lake, Nicole J., Calvo, Sarah E., Grønborg, Sabine W., Krzesinski, Emma I., Amor, David J., Fahey, Michael C., Simons, Cas, Wibrand, Flemming, Mootha, Vamsi K., Lek, Monkol, Lunke, Sebastian, Stark, Zornitza, Østergaard, Elsebet, Christodoulou, John, Thorburn, David R., Stroud, David A., Compton, Alison G., Amarasekera, Sumudu S.C., Hock, Daniella H., Lake, Nicole J., Calvo, Sarah E., Grønborg, Sabine W., Krzesinski, Emma I., Amor, David J., Fahey, Michael C., Simons, Cas, Wibrand, Flemming, Mootha, Vamsi K., Lek, Monkol, Lunke, Sebastian, Stark, Zornitza, Østergaard, Elsebet, Christodoulou, John, Thorburn, David R., Stroud, David A., and Compton, Alison G.

Abstract

MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphorylation (OXPHOS) system encoded by mitochondrial Deoxyribonucleic acid (DNA). We used multi-omics and gene matching to identify three unrelated individuals with biallelic variants in MRPL39 presenting with multisystem diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into adulthood. Clinical exome sequencing of known disease genes failed to diagnose these patients; however quantitative proteomics identified a specific decrease in the abundance of large but not small mitoribosomal subunits in fibroblasts from the two patients with severe phenotype. Re-analysis of exome sequencing led to the identification of candidate single heterozygous variants in mitoribosomal genes MRPL39 (both patients) and MRPL15. Genome sequencing identified a shared deep intronic MRPL39 variant predicted to generate a cryptic exon, with transcriptomics and targeted studies providing further functional evidence for causation. The patient with the milder disease was homozygous for a missense variant identified through trio exome sequencing. Our study highlights the utility of quantitative proteomics in detecting protein signatures and in characterizing gene-disease associations in exome-unsolved patients. We describe Relative Complex Abundance analysis of proteomics data, a sensitive method that can identify defects in OXPHOS disorders to a similar or greater sensitivity to the traditional enzymology. Relative Complex Abundance has potential utility for functional validation or prioritization in many hundreds of inherited rare diseases where protein complex assembly is disrupted., MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphorylation (OXPHOS) system encoded by mitochondrial Deoxyribonucleic acid (DNA). We used multi-omics and gene matching to identify three unrelated individuals with biallelic variants in MRPL39 presenting with multisystem diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into adulthood. Clinical exome sequencing of known disease genes failed to diagnose these patients; however quantitative proteomics identified a specific decrease in the abundance of large but not small mitoribosomal subunits in fibroblasts from the two patients with severe phenotype. Re-analysis of exome sequencing led to the identification of candidate single heterozygous variants in mitoribosomal genes MRPL39 (both patients) and MRPL15. Genome sequencing identified a shared deep intronic MRPL39 variant predicted to generate a cryptic exon, with transcriptomics and targeted studies providing further functional evidence for causation. The patient with the milder disease was homozygous for a missense variant identified through trio exome sequencing. Our study highlights the utility of quantitative proteomics in detecting protein signatures and in characterizing gene-disease associations in exome-unsolved patients. We describe Relative Complex Abundance analysis of proteomics data, a sensitive method that can identify defects in OXPHOS disorders to a similar or greater sensitivity to the traditional enzymology. Relative Complex Abundance has potential utility for functional validation or prioritization in many hundreds of inherited rare diseases where protein complex assembly is disrupted.

Published
2023

29. School readiness of children at high risk of cerebral palsy randomised to early neuroprotection and neurorehabilitation: protocol for a follow-up study of participants from four randomised clinical trials

Author

Boyd, Roslyn N, primary, Novak, Iona, additional, Morgan, Catherine, additional, Bora, Samudragupta, additional, Sakzewski, Leanne, additional, Ware, Robert S, additional, Comans, Tracy, additional, Fahey, Michael Collingwood, additional, Whittingham, Koa, additional, Trost, Stewart, additional, Pannek, Kerstin, additional, Pagnozzi, Alex, additional, Mcintyre, Sarah, additional, Badawi, Nadia, additional, Smithers Sheedy, Hayley, additional, Palmer, Kirsten Rebecca, additional, Burgess, Andrea, additional, Keramat, Afroz, additional, Bell, Kristie, additional, Hines, Ashleigh, additional, Benfer, Katherine, additional, Gascoigne-Pees, Laura, additional, Leishman, Shaneen, additional, and Oftedal, Stina, additional

Published
2023
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30. Maternal SARS-CoV-2 exposure alters infant DNA methylation

Author

Hill, Rachel A., primary, Gibbons, Andrew, additional, Han, Uni, additional, Suwakulsiri, Wittaya, additional, Taseska, Angela, additional, Hammet, Fleur, additional, Southey, Melissa, additional, Malhotra, Atul, additional, Fahey, Michael, additional, Palmer, Kirsten R., additional, Hunt, Rod W., additional, Lim, Izaak, additional, Newman-Morris, Vesna, additional, and Sundram, Suresh, additional

Published
2023
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36. Safety of sibling cord blood cell infusion for children with cerebral palsy

Author

Crompton, Kylie, primary, Novak, Iona, additional, Fahey, Michael, additional, Badawi, Nadia, additional, Lee, Katherine J, additional, Mechinaud-Heloury, Francoise, additional, Edwards, Priya, additional, Colditz, Paul, additional, Soosay Raj, Trisha, additional, Hough, Janet, additional, Wang, Xiaofang, additional, Paget, Simon, additional, Hsiao, Kuang-Chih, additional, Anderson, Peter, additional, and Reddihough, Dinah, additional

Published
2022
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41. Real world outcomes and implementation pathways of exome sequencing in an adult genetic department

Author

Walsh, Maie, primary, West, Kirsty, additional, Taylor, Jessica A., additional, Thompson, Bryony A., additional, Hopkins, Adelaide, additional, Sexton, Adrienne, additional, Ragunathan, Abiramy, additional, Verma, Kunal P., additional, Panetta, Julie, additional, Matotek, Ebony, additional, Fahey, Michael C., additional, Christie, Michael, additional, Winship, Ingrid M., additional, Trainer, Alison H., additional, and James, Paul A., additional

Published
2022
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42. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Author

McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, De Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C. E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A, Guzmán, Guillermo G., Pavliuk, Mariia, McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, De Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C. E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A, Guzmán, Guillermo G., and Pavliuk, Mariia

Abstract

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. EXPOSURES: Genetic test results. MAIN OUTCOMES AND MEASURES: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. RESULTS: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical informati

Published
2022

46. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Author

Kurolap, Alina, primary, Kreuder, Florian, additional, Gonzaga-Jauregui, Claudia, additional, Duvdevani, Morasha Plesser, additional, Harel, Tamar, additional, Tammer, Luna, additional, Xin, Baozhong, additional, Bakhtiari, Somayeh, additional, Rice, James, additional, van Eyk, Clare L., additional, Gecz, Jozef, additional, Mah, Jean K., additional, Atkinson, Derek, additional, Cope, Heidi, additional, Sullivan, Jennifer A., additional, Douek, Alon M., additional, Colquhoun, Daniel, additional, Henry, Jason, additional, Wlodkowic, Donald, additional, Parman, Yesim, additional, Candayan, Ayşe, additional, Kocasoy-Orhan, Elif, additional, Ilivitzki, Anat, additional, Soudry, Shiri, additional, Leibu, Rina, additional, Glaser, Fabian, additional, Sency, Valerie, additional, Ast, Gil, additional, Shashi, Vandana, additional, Fahey, Michael C., additional, Battaloğlu, Esra, additional, Jordanova, Albena, additional, Meiner, Vardiella, additional, Innes, A. Micheil, additional, Wang, Heng, additional, Elpeleg, Orly, additional, Kruer, Michael C., additional, Kaslin, Jan, additional, and Baris Feldman, Hagit, additional

Published
2022
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49. Ethylmalonic encephalopathy masquerading as meningococcemia

Author

Horton, Ari Elliot, primary, Hong, Kai Mun, additional, Pandithan, Dinusha, additional, Allen, Meredith, additional, Killick, Caroline, additional, Goergen, Stacy, additional, Springer, Amanda, additional, Phelan, Dean, additional, Marty, Melanie, additional, Halligan, Rebecca, additional, Lee, Joy, additional, Pitt, James, additional, Chong, Belinda, additional, Christodoulou, John, additional, Lunke, Sebastian, additional, Stark, Zornitza, additional, and Fahey, Michael, additional

Published
2022
Full Text
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