Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease von Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank

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

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

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

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

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data von 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.

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Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings von Abbasi, Wafaa, French, Courtney E., Rockowitz, Shira, Kenna, Margaret A., Eliot Shearer, A.

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment von 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

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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease von Zheng, Wen-Qiang, Pedersen, Signe Vandal, Thompson, Kyle, Bellacchio, Emanuele, French, Courtney E, Munro, Benjamin, Pearson, Toni S, Vogt, Julie, Diodato, Daria, Diemer, Tue, Ernst, Anja, Horvath, Rita, Chitre, Manali, Ek, Jakob, Wibrand, Flemming, Grange, Dorothy K, Raymond, Lucy, Zhou, Xiao-Long, Taylor, Robert W, Ostergaard, Elsebet

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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review von Morton, Sarah U, Christodoulou, John, Costain, Gregory, Muntoni, Francesco, Wakeling, Emma, Wojcik, Monica H, French, Courtney E, Szuto, Anna, Dowling, James J, Cohn, Ronald D, Raymond, F. Lucy, Darras, Basil T, Williams, David A, Lunke, Sebastian, Stark, Zornitza, Rowitch, David H, Agrawal, Pankaj B

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders von Sanchis-Juan, Alba, Megy, Karyn, Stephens, Jonathan, Armirola Ricaurte, Camila, Dewhurst, Eleanor, Low, Kayyi, French, Courtney E., Grozeva, Detelina, Stirrups, Kathleen, Erwood, Marie, McTague, Amy, Penkett, Christopher J., Shamardina, Olga, Tuna, Salih, Daugherty, Louise C., Gleadall, Nicholas, Duarte, Sofia T., Hedrera-Fernández, Antonio, Vogt, Julie, Ambegaonkar, Gautam, Chitre, Manali, Josifova, Dragana, Kurian, Manju A., Parker, Alasdair, Rankin, Julia, Reid, Evan, Wakeling, Emma, Wassmer, Evangeline, Woods, C. Geoffrey, Raymond, F. Lucy, Carss, Keren J.

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

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

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Two Alleles of NF-κB in the Sea Anemone Nematostella vectensis Are Widely Dispersed in Nature and Encode Proteins with Distinct Activities von Sullivan, James C., Wolenski, Francis S., Reitzel, Adam M., French, Courtney E., Traylor-Knowles, Nikki, Gilmore, Thomas D., Finnerty, John R.

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Germline selection shapes human mitochondrial DNA diversity von Wei, Wei, Tuna, Salih, Keogh, Michael J, Smith, Katherine R, Aitman, Timothy J, Beales, Phil L, Bennett, David L, Gale, Daniel P, Bitner-Glindzicz, Maria A K, Black, Graeme C, Brennan, Paul, Elliott, Perry, Flinter, Frances A, Floto, R Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R, Markus, Hugh S, Morrell, Nicholas W, Newman, William G, Roberts, Irene, Sayer, John A, Smith, Kenneth G C, Taylor, Jenny C, Watkins, Hugh, Webster, Andrew R, Wilkie, Andrew O M, Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J, Stirrups, Kathleen E, Rendon, Augusto, Ouwehand, Willem H, Bradley, John R, Raymond, F Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F

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

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Two alleles of NF-kappaB in the sea anemone Nematostella vectensis are widely dispersed in nature and encode proteins with distinct activities von Sullivan, James C, Wolenski, Francis S, Reitzel, Adam M, French, Courtney E, Traylor-Knowles, Nikki, Gilmore, Thomas D, Finnerty, John R

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Two Alleles of NF-[kappa]B in the Sea Anemone Nematostella vectensis Are Widely Dispersed in Nature and Encode Proteins with Distinct Activities von Sullivan, James C, Wolenski, Francis S, Reitzel, Adam M, French, Courtney E, Traylor-Knowles, Nikki, Gilmore, Thomas D, Finnerty, John R

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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease von Annear, Dale J, Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E, Raymond, Lucy, Kooy, R Frank

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood von 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, Next Generation Children’s Project Consortium, Ellard, Sian, Rowitch, David H, Raymond, F Lucy

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