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1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Author

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Goriely, Anne, Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lachlan, Katherine L., Lalani, Seema R., Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mansour, Sahar, Maurer, Taylor M., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S., Tan, Tiong Yang, Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., Uebergang, Eloise, VanNoy, Grace E., Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Howson, Joanna M. M., Sanders, Stephan J., O’Donnell-Luria, Anne, and Whiffin, Nicola

Published
2024
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2. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

Author

Wallis, Mathew, Bodek, Simon D., Munro, Jacob, Rafehi, Haloom, Bennett, Mark F., Ye, Zimeng, Schneider, Amy, Gardiner, Fiona, Valente, Giulia, Murdoch, Emma, Uebergang, Eloise, Hunter, Jacquie, Stutterd, Chloe, Huq, Aamira, Salmon, Lucinda, Scheffer, Ingrid, Eratne, Dhamidhu, Meyn, Stephen, Fong, Chun Y., John, Tom, Mullen, Saul, White, Susan M., Brown, Natasha J., McGillivray, George, Chen, Jesse, Richmond, Chris, Hughes, Andrew, Krzesinski, Emma, Fennell, Andrew, Chambers, Brian, Santoreneos, Renee, Le Fevre, Anna, Hildebrand, Michael S., Bahlo, Melanie, Christodoulou, John, Delatycki, Martin, and Berkovic, Samuel F.

Published
2024
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3. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Author

Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, and Roscioli, Tony

Published
2024
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4. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (vol 142, pg 2617, 2019)

Author

Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Buttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christele, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quelin, Chloe, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martinez-Cerdeno, Veronica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, and Jamra, Rami

Subjects
Neurology & Neurosurgery, Medical and Health Sciences, Psychology and Cognitive Sciences
Published
2019

5. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Author

Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, and Jamra, Rami

Subjects
Biomedical and Clinical Sciences, Health Sciences, Psychology, Stem Cell Research, Neurosciences, Mental Health, Biotechnology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Clinical Research, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Adaptor Proteins, Signal Transducing, Adolescent, Animals, Autophagy-Related Proteins, Brain, Child, Child, Preschool, Female, Genetic Variation, Humans, Male, Mice, Mice, Transgenic, Neurodevelopmental Disorders, Organ Size, Protein Structure, Secondary, WDFY3, brain size, neurodevelopmental delay, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay. Nine variants were protein-truncating and four missense. Overlapping symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder). One proband presented with an opposing phenotype of microcephaly and the only missense-variant located in the PH-domain of WDFY3. Findings of this case are supported by previously published data, demonstrating that pathogenic PH-domain variants can lead to microcephaly via canonical Wnt-pathway upregulation. In a separate study, we reported that the autophagy scaffolding protein WDFY3 is required for cerebral cortical size regulation in mice, by controlling proper division of neural progenitors. Here, we show that proliferating cortical neural progenitors of human embryonic brains highly express WDFY3, further supporting a role for this molecule in the regulation of prenatal neurogenesis. We present data on Wnt-pathway dysregulation in Wdfy3-haploinsufficient mice, which display macrocephaly and deficits in motor coordination and associative learning, recapitulating the human phenotype. Consequently, we propose that in humans WDFY3 loss-of-function variants lead to macrocephaly via downregulation of the Wnt pathway. In summary, we present WDFY3 as a novel gene linked to mild to moderate neurodevelopmental delay and intellectual disability and conclude that variants putatively causing haploinsufficiency lead to macrocephaly, while an opposing pathomechanism due to variants in the PH-domain of WDFY3 leads to microcephaly.

Published
2019

8. Improving Genetic Diagnostic Yield in a Large Cohort of Children with Rare Vascular Anomalies or PIK3CA-related overgrowth spectrum

Author

Green, Timothy E., primary, Garza, Denisse, additional, Brown, Natasha J., additional, de Silva, Michelle G., additional, Bennett, Mark F., additional, Tubb, Caitlin, additional, Phillips, Roderic J., additional, MacGregor, Duncan, additional, Robertson, Susan J., additional, Bekhor, Phillip, additional, Simpson, Jodie, additional, Penington, Anthony J., additional, and Hildebrand, Michael S., additional

Published
2023
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12. De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype.

Author

Francis, David, Lall, Paula, Ayres, Samantha, Van Bergen, Nicole J., Christodoulou, John, Brown, Natasha J., and Kalitsis, Paul

Subjects
PHENOTYPES, EMBRYOLOGY, GENETIC code, TRANSCRIPTION factors, HOMEOBOX genes
Abstract

Critical genes involved in embryonic development are often transcription factors, regulating many downstream genes. LMX1B is a homeobox gene that is involved in formation of the limbs, eyes and kidneys, heterozygous loss‐of‐function sequence variants and deletions cause Nail‐Patella syndrome. Most of the reported variants are localised within the gene's coding sequence, however, approximately 5%–10% of affected individuals do not have a pathogenic variant identified within this region. In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B‐binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail‐Patella phenotype that includes ophthalmological and renal manifestations. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Author

Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, and Stark, Zornitza

Published
2020
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15. De novo variants in the RNU4-2snRNA cause a frequent neurodevelopmental syndrome

Author

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Goriely, Anne, Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lachlan, Katherine L., Lalani, Seema R., Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mansour, Sahar, Maurer, Taylor M., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S., Tan, Tiong Yang, Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., Uebergang, Eloise, VanNoy, Grace E., Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Howson, Joanna M. M., Sanders, Stephan J., O’Donnell-Luria, Anne, and Whiffin, Nicola

Abstract

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2as a syndromic NDD gene. RNU4-2encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 base pair region of RNU4-2mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2is highly expressed in the developing human brain, in contrast to RNU4-1and other U4 homologues. Using RNA sequencing, we show how 5′ splice-site use is systematically disrupted in individuals with RNU4-2variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide.

Published
2024
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16. Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Author

Ye, Zimeng, primary, Lin, Sufang, additional, Zhao, Xia, additional, Bennett, Mark F., additional, Brown, Natasha J., additional, Wallis, Mathew, additional, Gao, Xinyi, additional, Sun, Li, additional, Wu, Jiarui, additional, Vedururu, Ravikiran, additional, Witkowski, Tom, additional, Gardiner, Fiona, additional, Stutterd, Chloe, additional, Duan, Jing, additional, Mullen, Saul A., additional, McGillivray, George, additional, Bodek, Simon, additional, Valente, Giulia, additional, Reagan, Matthew, additional, Yao, Yi, additional, Li, Lin, additional, Chen, Li, additional, Boys, Amber, additional, Adikari, Thiuni N., additional, Cao, Dezhi, additional, Hu, Zhanqi, additional, Beshay, Victoria, additional, Zhang, Victor W., additional, Berkovic, Samuel F., additional, Scheffer, Ingrid E., additional, Liao, Jianxiang, additional, and Hildebrand, Michael S., additional

Published
2022
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17. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, Kleefstra, Tjitske, Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, and Kleefstra, Tjitske

Published
2022

18. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, primary, den Hoed, Joery, additional, Snijders Blok, Lot, additional, Dingemans, Alexander J.M., additional, Schijven, Dick, additional, Nellaker, Christoffer, additional, Venselaar, Hanka, additional, Astuti, Galuh D.N., additional, Barakat, Tahsin Stefan, additional, Bebin, E. Martina, additional, Beck-Wödl, Stefanie, additional, Beunders, Gea, additional, Brown, Natasha J., additional, Brunet, Theresa, additional, Brunner, Han G., additional, Campeau, Philippe M., additional, Čuturilo, Goran, additional, Gilissen, Christian, additional, Haack, Tobias B., additional, Hüning, Irina, additional, Husain, Ralf A., additional, Kamien, Benjamin, additional, Lim, Sze Chern, additional, Lovrecic, Luca, additional, Magg, Janine, additional, Maver, Ales, additional, Miranda, Valancy, additional, Monteil, Danielle C., additional, Ockeloen, Charlotte W., additional, Pais, Lynn S., additional, Plaiasu, Vasilica, additional, Raiti, Laura, additional, Richmond, Christopher, additional, Rieß, Angelika, additional, Schwaibold, Eva M.C., additional, Simon, Marleen E.H., additional, Spranger, Stephanie, additional, Tan, Tiong Yang, additional, Thompson, Michelle L., additional, de Vries, Bert B.A., additional, Wilkins, Ella J., additional, Willemsen, Marjolein H., additional, Francks, Clyde, additional, Vissers, Lisenka E.L.M., additional, Fisher, Simon E., additional, and Kleefstra, Tjitske, additional

Published
2022
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19. Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

Author

Akesson, Lauren S., primary, Rius, Rocio, additional, Brown, Natasha J., additional, Rosenbaum, Jeremy, additional, Donoghue, Sarah, additional, Stormon, Michael, additional, Chai, Charmaine, additional, Bordador, Esmeralda, additional, Guo, Yiran, additional, Hakonarson, Hakon, additional, Compton, Alison G., additional, Thorburn, David R., additional, Amarasekera, Sumudu, additional, Marum, Justine, additional, Monaco, Alisha, additional, Lee, Crystle, additional, Chong, Belinda, additional, Lunke, Sebastian, additional, Stark, Zornitza, additional, and Christodoulou, John, additional

Published
2022
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20. Disorders in sterol metabolism: A case series

Author

Lee, Joy, primary, Kiss, Sharmila, additional, Amor, David J., additional, Brown, Natasha J., additional, Hardikar, Winita, additional, Hong, Kai M., additional, MacGregor, Duncan, additional, Marty, Melanie, additional, Marum, Justine, additional, Pai, Gautham, additional, Wallace, Jane, additional, and Pitt, James, additional

Published
2022
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21. Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Author

Van Bergen, Nicole J., primary, Hock, Daniella H., additional, Spencer, Lucy, additional, Massey, Sean, additional, Stait, Tegan, additional, Stark, Zornitza, additional, Lunke, Sebastian, additional, Roesley, Ain, additional, Peters, Heidi, additional, Lee, Joy Yaplito, additional, Le Fevre, Anna, additional, Heath, Oliver, additional, Mignone, Cristina, additional, Yang, Joseph Yuan-Mou, additional, Ryan, Monique M., additional, D’Arcy, Colleen, additional, Nash, Margot, additional, Smith, Sile, additional, Caruana, Nikeisha J., additional, Thorburn, David R., additional, Stroud, David A., additional, White, Susan M., additional, Christodoulou, John, additional, and Brown, Natasha J., additional

Published
2022
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22. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional

Published
2022
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24. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Author

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, and Jungbluth, Heinz

Published
2016
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25. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

Author

Cloney, Thomas, primary, Gallacher, Lyndon, additional, Pais, Lynn S, additional, Tan, Natalie B, additional, Yeung, Alison, additional, Stark, Zornitza, additional, Brown, Natasha J, additional, McGillivray, George, additional, Delatycki, Martin B, additional, de Silva, Michelle G, additional, Downie, Lilian, additional, Stutterd, Chloe A, additional, Elliott, Justine, additional, Compton, Alison G, additional, Lovgren, Alysia, additional, Oertel, Ralph, additional, Francis, David, additional, Bell, Katrina M, additional, Sadedin, Simon, additional, Lim, Sze Chern, additional, Helman, Guy, additional, Simons, Cas, additional, Macarthur, Daniel G, additional, Thorburn, David R, additional, O'Donnell-Luria, Anne H, additional, Christodoulou, John, additional, White, Susan M, additional, and Tan, Tiong Yang, additional

Published
2021
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26. A family study implicates GBE1 in the etiology of autism spectrum disorder

Author

Fanjul‐Fernández, Miriam, primary, Brown, Natasha J., additional, Hickey, Peter, additional, Diakumis, Peter, additional, Rafehi, Haloom, additional, Bozaoglu, Kiymet, additional, Green, Cherie C., additional, Rattray, Audrey, additional, Young, Savannah, additional, Alhuzaimi, Dana, additional, Mountford, Hayley S., additional, Gillies, Greta, additional, Lukic, Vesna, additional, Vick, Tanya, additional, Finlay, Keri, additional, Coe, Bradley P., additional, Eichler, Evan E., additional, Delatycki, Martin B., additional, Wilson, Sarah J., additional, Bahlo, Melanie, additional, Scheffer, Ingrid E., additional, and Lockhart, Paul J., additional

Published
2021
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27. Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, primary, den Hoed, Joery, additional, Snijders Blok, Lot, additional, Dingemans, Alexander J. M., additional, Schijven, Dick, additional, Nellaker, Christoffer, additional, Venselaar, Hanka, additional, Barakat, Tahsin Stefan, additional, Bebin, E. Martina, additional, Beck-Wödl, Stefanie, additional, Beunders, Gea, additional, Brown, Natasha J., additional, Brunet, Theresa, additional, Brunner, Han G., additional, Campeau, Philippe M., additional, Čuturilo, Goran, additional, Gilissen, Christian, additional, Haack, Tobias B., additional, Husain, Ralf A., additional, Kamien, Benjamin, additional, Lim, Sze Chern, additional, Lovrecic, Luca, additional, Magg, Janine, additional, Maver, Ales, additional, Miranda, Valancy, additional, Monteil, Danielle C., additional, Ockeloen, Charlotte W., additional, Pais, Lynn S., additional, Plaiasu, Vasilica, additional, Raiti, Laura, additional, Richmond, Christopher, additional, Rieß, Angelika, additional, Schwaibold, Eva M. C., additional, Simon, Marleen E. H., additional, Spranger, Stephanie, additional, Tan, Tiong Yang, additional, Thompson, Michelle L., additional, de Vries, Bert B.A., additional, Wilkins, Ella J., additional, Willemsen, Marjolein H., additional, Francks, Clyde, additional, Vissers, Lisenka E. L. M., additional, Fisher, Simon E., additional, and Kleefstra, Tjitske, additional

Published
2021
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30. De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Author

Gregor, Anne, primary, Meerbrei, Tanja, additional, Gerstner, Thorsten, additional, Toutain, Annick, additional, Lynch, Sally Ann, additional, Stals, Karen, additional, Maxton, Caroline, additional, Lemke, Johannes R, additional, Bernat, John A, additional, Bombei, Hannah M, additional, Foulds, Nicola, additional, Hunt, David, additional, Kuechler, Alma, additional, Beygo, Jasmin, additional, Stöbe, Petra, additional, Bouman, Arjan, additional, Palomares-Bralo, Maria, additional, Santos-Simarro, Fernando, additional, Garcia-Minaur, Sixto, additional, Pacio-Miguez, Marta, additional, Popp, Bernt, additional, Vasileiou, Georgia, additional, Hebebrand, Moritz, additional, Reis, André, additional, Schuhmann, Sarah, additional, Krumbiegel, Mandy, additional, Brown, Natasha J, additional, Sparber, Peter, additional, Melikyan, Lyusya, additional, Bessonova, Liudmila, additional, Cherevatova, Tatiana, additional, Sharkov, Artem, additional, Shcherbakova, Natalia, additional, Dabir, Tabib, additional, Kini, Usha, additional, Schwaibold, Eva M C, additional, Haack, Tobias B, additional, Bertoli, Marta, additional, Hoffjan, Sabine, additional, Falb, Ruth, additional, Shinawi, Marwan, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional

Published
2021
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32. Genome sequencing in congenital cataracts improves diagnostic yield

Author

Ma, Alan, primary, Grigg, John R., additional, Flaherty, Maree, additional, Smith, James, additional, Minoche, Andre E., additional, Cowley, Mark J., additional, Nash, Benjamin M., additional, Ho, Gladys, additional, Gayagay, Thet, additional, Lai, Tiffany, additional, Farnsworth, Elizabeth, additional, Hackett, Emma L., additional, Slater, Katrina, additional, Wong, Karen, additional, Holman, Katherine J., additional, Jenkins, Gemma, additional, Cheng, Anson, additional, Martin, Frank, additional, Brown, Natasha J., additional, Leighton, Sarah E., additional, Amor, David J., additional, Goel, Himanshu, additional, Dinger, Marcel E., additional, Bennetts, Bruce, additional, and Jamieson, Robyn V., additional

Published
2021
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33. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Author

Voisin, Norine, primary, Schnur, Rhonda E., additional, Douzgou, Sofia, additional, Hiatt, Susan M., additional, Rustad, Cecilie F., additional, Brown, Natasha J., additional, Earl, Dawn L., additional, Keren, Boris, additional, Levchenko, Olga, additional, Geuer, Sinje, additional, Verheyen, Sarah, additional, Johnson, Diana, additional, Zarate, Yuri A., additional, Hančárová, Miroslava, additional, Amor, David J., additional, Bebin, E. Martina, additional, Blatterer, Jasmin, additional, Brusco, Alfredo, additional, Cappuccio, Gerarda, additional, Charrow, Joel, additional, Chatron, Nicolas, additional, Cooper, Gregory M., additional, Courtin, Thomas, additional, Dadali, Elena, additional, Delafontaine, Julien, additional, Del Giudice, Ennio, additional, Doco, Martine, additional, Douglas, Ganka, additional, Eisenkölbl, Astrid, additional, Funari, Tara, additional, Giannuzzi, Giuliana, additional, Gruber-Sedlmayr, Ursula, additional, Guex, Nicolas, additional, Heron, Delphine, additional, Holla, Øystein L., additional, Hurst, Anna C.E., additional, Juusola, Jane, additional, Kronn, David, additional, Lavrov, Alexander, additional, Lee, Crystle, additional, Lorrain, Séverine, additional, Merckoll, Else, additional, Mikhaleva, Anna, additional, Norman, Jennifer, additional, Pradervand, Sylvain, additional, Prchalová, Darina, additional, Rhodes, Lindsay, additional, Sanders, Victoria R., additional, Sedláček, Zdeněk, additional, Seebacher, Heidelis A., additional, Sellars, Elizabeth A., additional, Sirchia, Fabio, additional, Takenouchi, Toshiki, additional, Tanaka, Akemi J., additional, Taska-Tench, Heidi, additional, Tønne, Elin, additional, Tveten, Kristian, additional, Vitiello, Giuseppina, additional, Vlčková, Markéta, additional, Uehara, Tomoko, additional, Nava, Caroline, additional, Yalcin, Binnaz, additional, Kosaki, Kenjiro, additional, Donnai, Dian, additional, Mundlos, Stefan, additional, Brunetti-Pierri, Nicola, additional, Chung, Wendy K., additional, and Reymond, Alexandre, additional

Published
2021
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34. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Author

Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn S., Tan, Natalie B., Yeung, Alison, Stark, Zornitza, Brown, Natasha J., McGillivray, George, Delatycki, Martin B., de Silva, Michelle G., Downie, Lilian, Stutterd, Chloe A., Elliott, Justine, Compton, Alison G., Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina M., Sadedin, Simon, and Lim, Sze Chern

Abstract

Background Clinical exome sequencing typically achieves diagnostic yields of 30%-57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals. Aim We share the lessons learnt from the first 3 years of the Undiagnosed Diseases Program-Victoria, an Australian programme embedded within a clinical genetics service in the state of Victoria with a focus on paediatric rare diseases. Methods We enrolled families who remained without a diagnosis after clinical genomic (panel, exome or genome) sequencing between 2016 and 2018. We used family-based exome sequencing (family ES), family-based genome sequencing (family GS), RNA sequencing (RNA-seq) and high-resolution chromosomal microarray (CMA) with research-based analysis. Results In 150 families, we achieved a diagnosis or strong candidate in 64 (42.7%) (37 in known genes with a consistent phenotype, 3 in known genes with a novel phenotype and 24 in novel disease genes). Fifty-four diagnoses or strong candidates were made by family ES, six by family GS with RNA-seq, two by high-resolution CMA and two by data reanalysis. Conclusion We share our lessons learnt from the programme. Flexible implementation of multiple strategies allowed for scalability and response to the availability of new technologies. Broad implementation of family ES with research-based analysis showed promising yields post a negative clinical singleton ES. RNA-seq offered multiple benefits in family ES-negative populations. International data sharing strategies were critical in facilitating collaborations to establish novel disease-gene associations. Finally, the integrated approach of a multiskilled, multidisciplinary team was fundamental to having diverse perspectives and strategic decision-making.A [ABSTRACT FROM AUTHOR]

Published
2022
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35. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Author

Australian Genomics Health Alliance Acute Care Flagship, Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P, Pinner, Jason, Sandaradura, Sarah A, Buckley, Michael F, Krzesinski, Emma I, de Silva, Michelle G, Brett, Gemma R, Boggs, Kirsten, Mowat, David, Kirk, Edwin P, Adès, Lesley C, Akesson, Lauren S, Amor, David J, Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J, Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B, Edwards, Matthew, Elakis, George, Fahey, Michael C, et al, Schlapbach, Luregn J, and University of Zurich

Subjects
10036 Medical Clinic, 610 Medicine & health, 2700 General Medicine
Published
2020

36. Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies.

Author

Akesson, Lauren S., Rius, Rocio, Brown, Natasha J., Rosenbaum, Jeremy, Donoghue, Sarah, Stormon, Michael, Chai, Charmaine, Bordador, Esmeralda, Guo, Yiran, Hakonarson, Hakon, Compton, Alison G., Thorburn, David R., Amarasekera, Sumudu, Marum, Justine, Monaco, Alisha, Lee, Crystle, Chong, Belinda, Lunke, Sebastian, Stark, Zornitza, and Christodoulou, John

Published
2022
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37. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Author

Guo, Hui, primary, Zhang, Qiumeng, additional, Dai, Rujia, additional, Yu, Bin, additional, Hoekzema, Kendra, additional, Tan, Jieqiong, additional, Tan, Senwei, additional, Jia, Xiangbin, additional, Chung, Wendy K., additional, Hernan, Rebecca, additional, Alkuraya, Fowzan S., additional, Alsulaiman, Ahood, additional, Al-Muhaizea, Mohammad A., additional, Lesca, Gaetan, additional, Pons, Linda, additional, Labalme, Audrey, additional, Laux, Linda, additional, Bryant, Emily, additional, Brown, Natasha J., additional, Savva, Elena, additional, Ayres, Samantha, additional, Eratne, Dhamidhu, additional, Peeters, Hilde, additional, Bilan, Frédéric, additional, Letienne-Cejudo, Lucile, additional, Gilbert-Dussardier, Brigitte, additional, Ruiz-Arana, Inge-Lore, additional, Merlini, Jenny Meylan, additional, Boizot, Alexia, additional, Bartoloni, Lucia, additional, Santoni, Federico, additional, Karlowicz, Danielle, additional, McDonald, Marie, additional, Wu, Huidan, additional, Hu, Zhengmao, additional, Chen, Guodong, additional, Ou, Jianjun, additional, Brasch-Andersen, Charlotte, additional, Fagerberg, Christina R., additional, Dreyer, Inken, additional, chun-hui Tsai, Anne, additional, Slegesky, Valerie, additional, McGee, Rose B., additional, Daniels, Brina, additional, Sellars, Elizabeth A., additional, Carpenter, Lori A., additional, Schaefer, Bradley, additional, Sacoto, Maria J. Guillen, additional, Begtrup, Amber, additional, Schnur, Rhonda E., additional, Punj, Sumit, additional, Wentzensen, Ingrid M., additional, Rhodes, Lindsay, additional, Pan, Qian, additional, Bernier, Raphael A., additional, Chen, Chao, additional, Eichler, Evan E., additional, and Xia, Kun, additional

Published
2020
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38. Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Author

Trevis, Krysta J., primary, Brown, Natasha J., additional, Green, Cherie C., additional, Lockhart, Paul J., additional, Desai, Tarishi, additional, Vick, Tanya, additional, Anderson, Vicki, additional, Pua, Emmanuel P. K., additional, Bahlo, Melanie, additional, Delatycki, Martin B., additional, Scheffer, Ingrid E., additional, and Wilson, Sarah J., additional

Published
2020
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39. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

Author

Tan, Natalie B., primary, Stapleton, Rachel, additional, Stark, Zornitza, additional, Delatycki, Martin B., additional, Yeung, Alison, additional, Hunter, Matthew F., additional, Amor, David J., additional, Brown, Natasha J., additional, Stutterd, Chloe A., additional, McGillivray, George, additional, Yap, Patrick, additional, Regan, Matthew, additional, Chong, Belinda, additional, Fanjul Fernandez, Miriam, additional, Marum, Justine, additional, Phelan, Dean, additional, Pais, Lynn S., additional, White, Susan M., additional, Lunke, Sebastian, additional, and Tan, Tiong Y., additional

Published
2020
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41. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Author

Herkert, Johanna C., primary, Verhagen, Judith M.A., additional, Yotti, Raquel, additional, Haghighi, Alireza, additional, Phelan, Dean G., additional, James, Paul A., additional, Brown, Natasha J., additional, Stutterd, Chloe, additional, Macciocca, Ivan, additional, Leong, Kai'En, additional, Bulthuis, Marian L.C., additional, van Bever, Yolande, additional, van Slegtenhorst, Marjon A., additional, Boven, Ludolf G., additional, Roberts, Amy E., additional, Agarwal, Radhika, additional, Seidman, Jonathan, additional, Lakdawala, Neal K., additional, Fernández-Avilés, Francisco, additional, Burke, Michael A., additional, Pierpont, Mary Ella., additional, Braunlin, Elizabeth, additional, Ḉağlayan, Ahmet Okay, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Birnie, Erwin, additional, van Osch-Gevers, Lennie, additional, van Langen, Irene M., additional, Jongbloed, Jan D.H., additional, Lockhart, Paul J., additional, Amor, David J., additional, Seidman, Christine E., additional, and van de Laar, Ingrid M.B.H., additional

Published
2020
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43. A family study implicates GBE1 in the etiology of autism spectrum disorder.

Author

Fanjul‐Fernández, Miriam, Brown, Natasha J., Hickey, Peter, Diakumis, Peter, Rafehi, Haloom, Bozaoglu, Kiymet, Green, Cherie C., Rattray, Audrey, Young, Savannah, Alhuzaimi, Dana, Mountford, Hayley S., Gillies, Greta, Lukic, Vesna, Vick, Tanya, Finlay, Keri, Coe, Bradley P., Eichler, Evan E., Delatycki, Martin B., Wilson, Sarah J., and Bahlo, Melanie

Abstract

Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family‐based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. We studied a large multigenerational family of European ancestry with multiple family members affected with ASD or the broader autism phenotype (BAP). We identified a rare heterozygous variant in the gene encoding 1,4‐ɑ‐glucan branching enzyme 1 (GBE1) that was present in seven of seven individuals with ASD, nine of ten individuals with the BAP, and none of four tested unaffected individuals. We genotyped a community‐acquired cohort of 389 individuals with ASD and identified three additional probands. Cascade analysis demonstrated that the variant was present in 11 of 13 individuals with familial ASD/BAP and neither of the two tested unaffected individuals in these three families, also of European ancestry. The variant was not enriched in the combined UK10K ASD cohorts of European ancestry but heterozygous GBE1 deletion was overrepresented in large ASD cohorts, collectively suggesting an association between GBE1 and ASD. [ABSTRACT FROM AUTHOR]

Published
2022
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45. Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

Author

Bozaoglu, Kiymet, primary, Gao, Yujing, additional, Stanley, Edouard, additional, Fanjul-Fernández, Miriam, additional, Brown, Natasha J., additional, Pope, Kate, additional, Green, Cherie C., additional, Vlahos, Katerina, additional, Sourris, Koula, additional, Bahlo, Melanie, additional, Delatycki, Martin, additional, Scheffer, Ingrid, additional, and Lockhart, Paul J., additional

Published
2019
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46. Variants in the degron ofAFF3cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Author

Voisin, Norine, primary, Schnur, Rhonda E., additional, Douzgou, Sofia, additional, Hiatt, Susan M., additional, Rustad, Cecilie F., additional, Brown, Natasha J., additional, Earl, Dawn L., additional, Keren, Boris, additional, Levchenko, Olga, additional, Geuer, Sinje, additional, Amor, David, additional, Brusco, Alfredo, additional, Bebin, E. Martina, additional, Cappuccio, Gerarda, additional, Charrow, Joel, additional, Chatron, Nicolas, additional, Cooper, Gregory M., additional, Dadali, Elena, additional, Delafontaine, Julien, additional, Del Giudice, Ennio, additional, Douglas, Ganka, additional, Funari, Tara, additional, Giannuzzi, Giuliana, additional, Guex, Nicolas, additional, Heron, Delphine, additional, Holla, Øystein L., additional, Hurst, Anna C.E., additional, Juusola, Jane, additional, Kronn, David, additional, Lavrov, Alexander, additional, Lee, Crystle, additional, Merckoll, Else, additional, Mikhaleva, Anna, additional, Norman, Jennifer, additional, Pradervand, Sylvain, additional, Sanders, Victoria, additional, Sirchia, Fabio, additional, Takenouchi, Toshiki, additional, Tanaka, Akemi J., additional, Taska-Tench, Heidi, additional, Tønne, Elin, additional, Tveten, Kristian, additional, Vitiello, Giuseppina, additional, Uehara, Tomoko, additional, Nava, Caroline, additional, Yalcin, Binnaz, additional, Kosaki, Kenjiro, additional, Donnai, Dian, additional, Mundlos, Stefan, additional, Brunetti-Pierri, Nicola, additional, Chung, Wendy K., additional, and Reymond, Alexandre, additional

Published
2019
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47. Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Author

Trevis, Krysta J, primary, Brown, Natasha J, additional, Green, Cherie, additional, Lockhart, Paul, additional, Hickey, Peter, additional, Fanjul-Fernández, Miriam, additional, Bromhead, Catherine, additional, Desai, Tarishi, additional, Vick, Tanya, additional, Gillies, Greta, additional, Mountford, Hayley, additional, Fitzpatrick, Elizabeth, additional, Gordon, Lavinia, additional, Hewson, Peter, additional, Anderson, Vicki, additional, Delatycki, Martin B, additional, Scheffer, Ingrid E, additional, and Wilson, Sarah J, additional

Published
2019
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48. Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care

Author

Akesson, Lauren S., primary, Eggers, Stefanie, additional, Chong, Belinda, additional, Hunter, Matthew F., additional, Krzesinski, Emma, additional, Brown, Natasha J., additional, Tan, Tiong Yang, additional, Richmond, Christopher, additional, Thorburn, David R., additional, Christodoulou, John, additional, Stark, Zornitza, additional, and Lunke, Sebastian, additional

Published
2019
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50. Cognitive processes predicting advanced theory of mind in the broader autism phenotype.

Author

Green, Cherie C., Brown, Natasha J., Yap, Valerie M.Z., Scheffer, Ingrid E., and Wilson, Sarah J.

Abstract

Little is known about executive functions (EFs) associated with advanced theory of mind (ToM) abilities. We aimed to determine if advanced ToM abilities were reduced in individuals with subclinical traits of autism spectrum disorder (ASD), known as the "Broader Autism Phenotype" (BAP), and identify the EFs that predicted unimpaired performance on an advanced ToM task, the faux pas test. We assessed 29 participants (13 males) with the BAP who were relatives of children with ASD. Thirteen participants showed reduced ability to understand a faux pas. A discriminant function analysis correctly classified 79% of cases as impaired or unimpaired, with high sensitivity (80%) and specificity (77%), which was best predicted by language‐mediated EFs, including verbal generativity, working memory, cognitive inhibition, and flexibility. Autism Res 2020, 13: 921‐934. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary: Little is known about the complex cognitive processes that enable accurate interpretation of another person's thoughts and emotions, known as "theory of mind." In relatives of individuals with autism, who had mild traits of autism themselves, approximately half had difficulty interpreting situations involving a social faux pas. Cognitive inhibition and flexibility, working memory, and verbal generativity were related to, and appeared to be protective for, unimpaired understanding of a faux pas. [ABSTRACT FROM AUTHOR]

Published
2020
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