Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

por Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank
Publicado 2021

Two Alleles of NF-κB in the Sea Anemone Nematostella vectensis Are Widely Dispersed in Nature and Encode Proteins with Distinct Activities

por Sullivan, James C., Wolenski, Francis S., Reitzel, Adam M., French, Courtney E., Traylor-Knowles, Nikki, Gilmore, Thomas D., Finnerty, John R.
Publicado 2009

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

por Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina
Publicado 2019

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

por French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Publicado 2019

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

por Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.
Publicado 2020

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

por French, Courtney E., Dolling, Helen, Mégy, Karyn, Sanchis-Juan, Alba, Kumar, Ajay, Delon, Isabelle, Wakeling, Matthew, Mallin, Lucy, Agrawal, Shruti, Austin, Topun, Walston, Florence, Park, Soo-Mi, Parker, Alasdair, Piyasena, Chinthika, Bradbury, Kimberley, Ellard, Sian, Rowitch, David H., Raymond, F. Lucy
Publicado 2022

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

por Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.
Publicado 2018

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

por Koh, Hyun Yong, Smith, Lacey, Wiltrout, Kimberly N., Podury, Archana, Chourasia, Nitish, D’Gama, Alissa M., Park, Meredith, Knight, Devon, Sexton, Emma L., Koh, Julia J., Oby, Brandon, Pinsky, Rebecca, Shao, Diane D., French, Courtney E., Shao, Wanqing, Rockowitz, Shira, Sliz, Piotr, Zhang, Bo, Mahida, Sonal, Moufawad El Achkar, Christelle, Yuskaitis, Christopher J., Olson, Heather E., Sheidley, Beth Rosen, Poduri, Annapurna H.
Publicado 2023

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

por Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan
Publicado 2020

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

por Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert, Poulton, Joanna, Ryan, Michael T., Wittig, Ilka, Henneke, Marco, Taylor, Robert W.
Publicado 2018

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

por Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul
Publicado 2022