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1. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.

Author

Qian, Xuyu, DeGennaro, Ellen, Talukdar, Maya, Akula, Shyam, Lai, Abbe, Shao, Diane, Gonzalez, Dilenny, Marciano, Jack, Smith, Richard, Hylton, Norma, Yang, Edward, Bazan, J, Barrett, Lee, Yeh, Rebecca, Hill, R, Beck, Samantha, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer, Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish, Barnett, Christopher, Arts, Peer, Sherr, Elliott, Lupski, James, Walsh, Christopher, and Argilli, Emanuela

Subjects
apoptosis, cerebral cortex, congenital brain malformation, corpus callosum, development, genetics, kinesin, migration, organoid, Humans, Animals, Mice, Kinesins, Neurons, Focal Adhesion Protein-Tyrosine Kinases, Apoptosis, Brain
Abstract

Kinesins are canonical molecular motors but can also function as modulators of intracellular signaling. KIF26A, an unconventional kinesin that lacks motor activity, inhibits growth-factor-receptor-bound protein 2 (GRB2)- and focal adhesion kinase (FAK)-dependent signal transduction, but its functions in the brain have not been characterized. We report a patient cohort with biallelic loss-of-function variants in KIF26A, exhibiting a spectrum of congenital brain malformations. In the developing brain, KIF26A is preferentially expressed during early- and mid-gestation in excitatory neurons. Combining mice and human iPSC-derived organoid models, we discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways. Our findings illustrate the pathogenesis of KIF26A loss-of-function variants and identify the surprising versatility of this non-motor kinesin.

Published
2022

2. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Author

Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., and Hahn, Christopher N.

Published
2024
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4. Integrated multi-omics for rapid rare disease diagnosis on a national scale

Author

Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, and Stark, Zornitza

Published
2023
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5. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

Author

Homan, Claire C., Drazer, Michael W., Yu, Kai, Lawrence, David M., Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew J., McNeely, Kelsey E., Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah L., Cheah, Jesse, Armstrong, Mark, Wang, Paul, Bödör, Csaba, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Kim, Erika, Sood, Raman, Hsu, Amy P., Holland, Steven M., Phillips, Kerry, Poplawski, Nicola K., Babic, Milena, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D., Cooney, Julian, Susman, Rachel, Fox, Lucy C., Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Phipson, Belinda, Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Liu, Paul, Godley, Lucy A., and Brown, Anna L.

Published
2023
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6. Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Author

Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., and Scott, Hamish S.

Published
2024
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7. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Author

Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., and Scott, Hamish S.

Published
2023
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9. Human variation in population-wide gene expression data predicts gene perturbation phenotype

Author

Bonaguro, Lorenzo, Schulte-Schrepping, Jonas, Carraro, Caterina, Sun, Laura L., Reiz, Benedikt, Gemünd, Ioanna, Saglam, Adem, Rahmouni, Souad, Georges, Michel, Arts, Peer, Hoischen, Alexander, Joosten, Leo A.B., van de Veerdonk, Frank L., Netea, Mihai G., Händler, Kristian, Mukherjee, Sach, Ulas, Thomas, Schultze, Joachim L., and Aschenbrenner, Anna C.

Published
2022
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10. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Author

Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., and Hahn, Christopher N.

Abstract

•Germ line ERG LOF variants predispose to cytopenias and HMs.•Somatic genetic rescue of ERG pathogenic variants in hematopoietic tissues impacts diagnosis, disease severity, and potential for correction.

Published
2024
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11. Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

Author

Poli Van Creveldkliniek Medisch, Regenerative Medicine and Stem Cells, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Child Health, Genetica, Venugopal, Parvathy, Arts, Peer, Fox, Lucy Claire, Simons, Annet, Hiwase, Devendra K, Bardy, Peter G, Narcis, Annette, Ross, David M, van Vulpen, Lize F D, Buijs, Arjan, Bolton, Kelly L, Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn P A, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S B, Bournazos, Adam, Cooper, Sandra T, Ha, Thuong Thi, Jackson, Matilda R, Arriola-Martinez, Luis Alberto, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S, Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Valkulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn C, Kuiper, Roland P, Poplawski, Nicola, Barbaro, Pasquale M, Blombery, Piers, Brown, Anna L, Hahn, Christopher N, Scott, Hamish S, Poli Van Creveldkliniek Medisch, Regenerative Medicine and Stem Cells, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Child Health, Genetica, Venugopal, Parvathy, Arts, Peer, Fox, Lucy Claire, Simons, Annet, Hiwase, Devendra K, Bardy, Peter G, Narcis, Annette, Ross, David M, van Vulpen, Lize F D, Buijs, Arjan, Bolton, Kelly L, Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn P A, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S B, Bournazos, Adam, Cooper, Sandra T, Ha, Thuong Thi, Jackson, Matilda R, Arriola-Martinez, Luis Alberto, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S, Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Valkulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn C, Kuiper, Roland P, Poplawski, Nicola, Barbaro, Pasquale M, Blombery, Piers, Brown, Anna L, Hahn, Christopher N, and Scott, Hamish S

Published
2024

14. The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution

Author

Singhal, Deepak, Wee, Li Yan A., Kutyna, Monika M., Chhetri, Rakchha, Geoghegan, Joel, Schreiber, Andreas W., Feng, Jinghua, Wang, Paul P.-S., Babic, Milena, Parker, Wendy T., Hiwase, Smita, Edwards, Suzanne, Moore, Sarah, Branford, Susan, Kuzmanovic, Teodora, Singhal, Nimit, Gowda, Raghu, Brown, Anna L., Arts, Peer, To, Luen B., Bardy, Peter G., Lewis, Ian D., D’Andrea, Richard J., Maciejewski, Jaroslaw P., Scott, Hamish S., Hahn, Christopher N., and Hiwase, Devendra K.

Published
2019
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15. ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy

Author

Scott, Hamish S, primary, Zerella, Jiarna, additional, Homan, Claire, additional, Arts, Peer, additional, Lin, Steve, additional, Spinelli, Sam J, additional, Babic, Milena, additional, Brautigan, Peter J, additional, Truong, Lynda, additional, Arriola-Martinez, Luis, additional, Venugopal, Parvathy, additional, Feurstein, Simone K, additional, Larcher, Lise, additional, Sicre De Fontbrune, Flore, additional, Demirdas, Serwet, additional, De Munnik, Sonja, additional, Poirel, Hélène, additional, Brichard, Benedicte, additional, Dobbins, Sara, additional, Mutsaers, Pim, additional, DeMille, Desiree S, additional, Flores-Daboub, Josue, additional, Drazer, Michael W, additional, Crawford, Alison, additional, McCarrier, Julie, additional, Basel, Donald G, additional, Phillips, Kerry, additional, Poplawski, Nicola K, additional, Birdsey, Graeme, additional, Pirri, Daniela, additional, Ostergaard, Pia, additional, Simons, Annet, additional, Godley, Lucy, additional, Ross, David M., additional, Hiwase, Devendra, additional, Soulier, Jean, additional, Brown, Anna, additional, Carmichael, Catherine, additional, and Hahn, Christopher N., additional

Published
2023
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16. Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

Author

Venugopal, Parvathy, Arts, Peer, Fox, Lucy C., Simons, Annet, Hiwase, Devendra K., Bardy, Peter G., Swift, Annette, Ross, David M., van Vulpen, Lize F. D., Buijs, Arjan, Bolton, Kelly L., Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S. B., Bournazos, Adam M., Cooper, Sandra T., Ha, Thuong Thi, Jackson, Matilda R., Arriola-Martinez, Luis, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S., Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Vakulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn, Kuiper, Roland P., Poplawski, Nicola K., Barbaro, Pasquale, Blombery, Piers, Brown, Anna L., Hahn, Christopher N., and Scott, Hamish S.

Published
2024
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19. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, AlZahrani, Mofareh S., Yilmaz, Elanur, AlIdrissi, Eman, van Aerde, Koen J., Alenezi, Njood, AlGhamdi, Hamza A., AlJubab, Hadeel A., Al-Hussaini, Abdulrahman A., AlManjomi, Fahad, Alsaad, Alaa B., Alsaleem, Badr, Andijani, Abdulrahman A., Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal P., van Deuren, Marcel, van der Flier, Michiel, Gerkes, Erica H., Gilissen, Christian, Habazi, Murad K., Hehir-Kwa, Jayne Y., Henriet, Stefanie S., Hoppenreijs, Esther P., Hortillosa, Sarah, Kerkhofs, Chantal H., Keski-Filppula, Riikka, Lelieveld, Stefan H., Lone, Khurram, MacKenzie, Marius A., Mensenkamp, Arjen R., Moilanen, Jukka, Nelen, Marcel, ten Oever, Jaap, Potjewijd, Judith, van Paassen, Pieter, Schuurs-Hoeijmakers, Janneke H. M., Simon, Anna, Stokowy, Tomasz, van de Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, van Well, Gijs T. J., Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris A., van Zelst-Stams, Wendy A. G., Faqeih, Eissa A., van de Veerdonk, Frank L., Netea, Mihai G., and Hoischen, Alexander

Published
2019
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20. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Author

van der Sluijs, Pleuntje J., primary, Joosten, Marieke, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Gilmore, Kelly, additional, Dubourg, Christele, additional, Fradin, Mélanie, additional, Wang, Tianyun, additional, Kurtz-Nelson, Evangeline C., additional, Ahlers, Kaitlyn P., additional, Arts, Peer, additional, Barnett, Christopher P., additional, Ashfaq, Myla, additional, Baban, Anwar, additional, van den Born, Myrthe, additional, Borrie, Sarah, additional, Busa, Tiffany, additional, Byrne, Alicia, additional, Carriero, Miriam, additional, Cesario, Claudia, additional, Chong, Karen, additional, Cueto-González, Anna Maria, additional, Dempsey, Jennifer C., additional, Diderich, Karin E.M., additional, Doherty, Dan, additional, Farholt, Stense, additional, Gerkes, Erica H., additional, Gorokhova, Svetlana, additional, Govaerts, Lutgarde C.P., additional, Gregersen, Pernille A., additional, Hickey, Scott E., additional, Lefebvre, Mathilde, additional, Mari, Francesca, additional, Martinovic, Jelena, additional, Northrup, Hope, additional, O’Leary, Melanie, additional, Parbhoo, Kareesma, additional, Patrier, Sophie, additional, Popp, Bernt, additional, Santos-Simarro, Fernando, additional, Stoltenburg, Corinna, additional, Thauvin-Robinet, Christel, additional, Thompson, Elisabeth, additional, Vulto-van Silfhout, Anneke T., additional, Zahir, Farah R., additional, Scott, Hamish S., additional, Earl, Rachel K., additional, Eichler, Evan E., additional, Vora, Neeta L., additional, Wilnai, Yael, additional, Giordano, Jessica L., additional, Wapner, Ronald J., additional, Rosenfeld, Jill A., additional, Haak, Monique C., additional, and Santen, Gijs W.E., additional

Published
2023
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21. Additional file 3 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Author

Sullivan, Patricia J., Gayevskiy, Velimir, Davis, Ryan L., Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J., Beecroft, Sarah, Jackson, Matilda R., Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E., Scott, Hamish S., Oates, Emily, Pinese, Mark, and Cowley, Mark J.

Abstract

Additional file 3. Review History.

Published
2023
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22. Additional file 2 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Author

Sullivan, Patricia J., Gayevskiy, Velimir, Davis, Ryan L., Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J., Beecroft, Sarah, Jackson, Matilda R., Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E., Scott, Hamish S., Oates, Emily, Pinese, Mark, and Cowley, Mark J.

Abstract

Additional file 2: Figure S1. Comparison of in silico splice-prediction tools on validated non-splice-altering variants. Using an UpSet plot, variants identified here by one or more tools are in silico false positives. The CADD and CADD-splice tools contributed the largest number of false positives. Figure S2. Novel Functions incorporated into Introme. A: Position Weight Matricesfor the exonic splicing enhancer motifs from ESEfinder [15] showing relative representationof nucleotides at each position of the motif. B: PWM for the hnRNP A1 exonic splicing silencer motif [50]. C: Normal splicing pattern with the blocks representing the location of the exons. Creation of an AG motif greater or equal to 15 nucleotides away from the branchpoint results in the use of the new splice site. Creation of an AG less than 15 nucleotides away from the branchpoint results in exon skipping due to the AG exclusion zone. The consensus motifs for exon definition of the minor spliceosomeare different than the major spliceosome. Intronic deletions which result in the branchpoint being less than 43 nucleotides away from the intron’s 5’SS result in the skipping of the preceding exon or intron retention. Figure S3. Importance of features included in Introme. Feature importance is an estimate of the contribution of each variable to the model. Boxes are coloured and labelled according to the source of the feature annotated. Figure S4. Overview of the methods and data sources for each section. Figure S5. Performance of in silico splice-prediction tools on three validation data sets. Precision recall curves and the corresponding positions of the splice-altering variants in the dataset for A-B: ncVar, C-D: MFASS and E-F: Shiraishi. Figure S6. Performance of in silico splice-prediction tools on three validation data sets, broken down by regions.

Published
2023
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23. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2 and DDX41

Author

Brown, Anna L., primary, Homan, Claire, additional, Drazer, Michael W., additional, Yu, Kai, additional, Lawrence, David, additional, Feng, Jinghua, additional, Arriola-Martinez, Luis, additional, Pozsgai, Matthew, additional, McNeely, Kelsey, additional, Ha, Thuong, additional, Venugopal, Parvathy, additional, Arts, Peer, additional, King-Smith, Sarah, additional, Cheah, Jesse JC, additional, Armstrong, Mark, additional, Bödör, Csaba, additional, Wang, Paul, additional, Cantor, Alan B., additional, Cazzola, Mario, additional, Degelman, Erin, additional, DiNardo, Courtney D., additional, Duployez, Nicolas, additional, Favier, Remi, additional, Fröhling, Stefan, additional, Rio-Machin, Ana, additional, Klco, Jeffery M., additional, Krämer, Alwin, additional, Kurokawa, Mineo, additional, Lee, Joanne, additional, Malcovati, Luca, additional, Morgan, Neil V, additional, Natsoulis, Georges, additional, Owen, Carolyn, additional, Patel, Keyur P., additional, Preudhomme, Claude, additional, Raslova, Hana, additional, Rienhoff, Hugh Young, additional, Ripperger, Tim, additional, Schulte, Rachael, additional, Tawana, Kiran, additional, Velloso, Elvira Deolinda Rodrigues Pereira, additional, Yan, Benedict, additional, Sood, Raman, additional, Hsu, Amy, additional, Holland, Steven M., additional, Phillips, Kerry, additional, Poplawski, Nicola, additional, Babic, Milena, additional, Kwon Kim, Erika M, additional, Wei, Andrew H., additional, Forsyth, Cecily, additional, Mar Fan, Helen, additional, Lewis, Ian D, additional, Cooney, Julian, additional, Susman, Rachel, additional, Fox, Lucy C, additional, Blombery, Piers, additional, Singhal, Deepak, additional, Hiwase, Devendra, additional, Schreiber, Andreas W, additional, Hahn, Christopher N, additional, Scott, Hamish S, additional, Liu, Paul P., additional, and Godley, Lucy A., additional

Published
2022
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24. Human TLR10 is an anti-inflammatory pattern-recognition receptor

Author

Oosting, Marije, Cheng, Shih-Chin, Bolscher, Judith M., Vestering-Stenger, Rachel, Plantinga, Theo S., Verschueren, Ineke C., Arts, Peer, Garritsen, Anja, van Eenennaam, Hans, Sturm, Patrick, Kullberg, Bart-Jan, Hoischen, Alexander, Adema, Gosse J., van der Meer, Jos W. M., Netea, Mihai G., and Joosten, Leo A. B.

Published
2014
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25. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Author

van der Sluijs, Pleuntje J., primary, Joosten, Marieke, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Gilmore, Kelly, additional, Dubourg, Christele, additional, Fradin, Mélanie, additional, Wang, Tianyun, additional, Kurtz-Nelson, Evangeline C., additional, Ahlers, Kaitlyn P., additional, Arts, Peer, additional, Barnett, Christopher P., additional, Ashfaq, Myla, additional, Baban, Anwar, additional, van den Born, Myrthe, additional, Borrie, Sarah, additional, Busa, Tiffany, additional, Byrne, Alicia, additional, Carriero, Miriam, additional, Cesario, Claudia, additional, Chong, Karen, additional, Cueto-González, Anna Maria, additional, Dempsey, Jennifer C., additional, Diderich, Karin E.M., additional, Doherty, Dan, additional, Farholt, Stense, additional, Gerkes, Erica H., additional, Gorokhova, Svetlana, additional, Govaerts, Lutgarde C.P., additional, Gregersen, Pernille A., additional, Hickey, Scott E., additional, Lefebvre, Mathilde, additional, Mari, Francesca, additional, Martinovic, Jelena, additional, Northrup, Hope, additional, O’Leary, Melanie, additional, Parbhoo, Kareesma, additional, Patrier, Sophie, additional, Popp, Bernt, additional, Santos-Simarro, Fernando, additional, Stoltenburg, Corinna, additional, Thauvin-Robinet, Christel, additional, Thompson, Elisabeth, additional, Vulto-van Silfhout, Anneke T., additional, Zahir, Farah R., additional, Scott, Hamish S., additional, Earl, Rachel K., additional, Eichler, Evan E., additional, Vora, Neeta L., additional, Wilnai, Yael, additional, Giordano, Jessica L., additional, Wapner, Ronald J., additional, Rosenfeld, Jill A., additional, Haak, Monique C., additional, and Santen, Gijs W.E., additional

Published
2022
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26. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

Author

Byrne, Alicia B., primary, Brouillard, Pascal, additional, Sutton, Drew L., additional, Kazenwadel, Jan, additional, Montazaribarforoushi, Saba, additional, Secker, Genevieve A., additional, Oszmiana, Anna, additional, Babic, Milena, additional, Betterman, Kelly L., additional, Brautigan, Peter J., additional, White, Melissa, additional, Piltz, Sandra G., additional, Thomas, Paul Q., additional, Hahn, Christopher N., additional, Rath, Matthias, additional, Felbor, Ute, additional, Korenke, G. Christoph, additional, Smith, Christopher L., additional, Wood, Kathleen H., additional, Sheppard, Sarah E., additional, Adams, Denise M., additional, Kariminejad, Ariana, additional, Helaers, Raphael, additional, Boon, Laurence M., additional, Revencu, Nicole, additional, Moore, Lynette, additional, Barnett, Christopher, additional, Haan, Eric, additional, Arts, Peer, additional, Vikkula, Miikka, additional, Scott, Hamish S., additional, and Harvey, Natasha L., additional

Published
2022
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27. Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Author

Arts, Peer, Garland, Jessica, Byrne, Alicia B., Hardy, Tristan S.E., Babic, Milena, Feng, Jinghua, Wang, Paul, Ha, Thuong, King‐Smith, Sarah L., Schreiber, Andreas W., Crawford, April, Manton, Nick, Moore, Lynette, Barnett, Christopher P., and Scott, Hamish S.

Subjects
Clinical Report, paternal mosaicism, PBX1‐related multisystem congenital anomaly syndrome, phenotype expansion, Clinical Reports, recurrence risk
Abstract

Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra‐renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one‐day‐old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post‐zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the PBX1 mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35 weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow‐up studies for presumed de novo and low‐level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations.

Published
2020

28. Simultaneous Genomic and Metagenomic Analysis for Miscarriage and Stillbirth Further Increases the Diagnostic Utility of Genome Sequencing

Author

Scott, Hamish, primary, Byrne, Alicia, additional, Arriola, Luis, additional, Eshraghi, Leila, additional, Ha, Thuong, additional, Feng, Jinghhua, additional, Babic, Milena, additional, Nguyen, Hung, additional, Ludington, Eleanor, additional, King-Smith, Sarah, additional, Parker, Wendy, additional, Kenyon, Rosalie, additional, Ritchie, Brett, additional, Lipsett, Jillian, additional, Manton, Nick, additional, Khong, T, additional, Moore, Lynette, additional, Arts, Peer, additional, Barnett, Christopher, additional, and Schreiber, Andreas, additional

Published
2022
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29. A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence

Author

Scott, Hamish, primary, Byrne, Alicia, additional, Arts, Peer, additional, Ha, Thuong, additional, Kassahn, Karin, additional, Pais, Lynn, additional, O’Donnell-Luria, Anne, additional, Babic, Milena, additional, Frank, Mahalia, additional, Feng, Jinghhua, additional, Wang, Paul, additional, Lawrence, David, additional, Eshraghi, Leila, additional, Arriola, Luis, additional, Toubia, John, additional, Nguyen, Hung, additional, Network, Genomic Autopsy Study Research, additional, McGillivray, George, additional, Pinner, Jason, additional, McKenzie, Fiona, additional, Morrow, Rebecca, additional, Lipsett, Jillian, additional, Manton, Nick, additional, Khong, T, additional, Moore, Lynette, additional, Liebelt, Jan, additional, Schreiber, Andreas, additional, King-Smith, Sarah, additional, Hardy, Tristan, additional, Jackson, Matilda, additional, and Barnett, Christopher, additional

Published
2022
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30. 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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31. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders

Author

Ravindran, Ethiraj, Jühlen, Ramona, Vieira-Vieira, Carlos H, Ha, Thuong, Salzberg, Yuval, Fichtman, Boris, Luise-Becker, Lena, Martins, Nuno, Picker-Minh, Sylvie, Bessa, Paraskevi, Arts, Peer, Jackson, Matilda R, Taranath, Ajay, Kamien, Benjamin, Barnett, Christopher, Li, Na, Tarabykin, Victor, Stoltenburg-Didinger, Gisela, Harel, Amnon, Selbach, Matthias, Dickmanns, Achim, Fahrenkrog, Birthe, Hu, Hao, Scott, Hamish, and Kaindl, Angela M

Subjects
Male, DNA Mutational Analysis, Infant, Newborn, Brain, Infant, Dwarfism, Syndrome, Fibroblasts, Pedigree, Nuclear Pore Complex Proteins, Phenotype, Child, Preschool, Mutation, Microcephaly, Humans, Female, Genetic Predisposition to Disease, General Article, Child, Genetic Association Studies
Abstract

Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalities, and a variable degree of cognitive impairment, short stature and facial dysmorphism. Recently, biallelic variants in the nuclear pore complex (NPC) component nucleoporin 85 gene (NUP85) were reported to cause steroid-resistant nephrotic syndrome (SRNS). Here, we report biallelic variants in NUP85 in two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS, thereby expanding the phenotypic spectrum of NUP85-linked diseases. Structural analysis predicts the identified NUP85 variants cause conformational changes that could have an effect on NPC architecture or on its interaction with other NUPs. We show that mutant NUP85 is, however, associated with a reduced number of NPCs but unaltered nucleocytoplasmic compartmentalization, abnormal mitotic spindle morphology, and decreased cell viability and proliferation in one patient's cells. Our results also indicate the link of common cellular mechanisms involved in MCPH-SCKS spectrum disorders and NUP85-associated diseases. In addition to the previous studies, our results broaden the phenotypic spectrum of NUP85-linked human disease and propose a role for NUP85 in nervous system development.

Published
2021

32. Cover, Volume 42, Issue 11

Author

Homan, Claire C., primary, Venugopal, Parvathy, additional, Arts, Peer, additional, Shahrin, Nur H., additional, Feurstein, Simone, additional, Rawlings, Lesley, additional, Lawrence, David M., additional, Andrews, James, additional, King‐Smith, Sarah L., additional, Harvey, Natasha L., additional, Brown, Anna L., additional, Scott, Hamish S., additional, and Hahn, Christopher N., additional

Published
2021
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33. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Author

Kumar, Raman, Corbett, Mark A., Smith, Nicholas J. C., Jolly, Lachlan A., Tan, Chuan, Keating, Damien J., Duffield, Michael D., Utsumi, Toshihiko, Moriya, Koko, Smith, Katherine R., Hoischen, Alexander, Abbott, Kim, Harbord, Michael G., Compton, Alison G., Woenig, Joshua A., Arts, Peer, Kwint, Michael, Wieskamp, Nienke, Gijsen, Sabine, Veltman, Joris A., Bahlo, Melanie, Gleeson, Joseph G., Haan, Eric, and Gecz, Jozef

Published
2015
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34. GATA2 deficiency syndrome: A decade of discovery

Author

Homan, Claire C., primary, Venugopal, Parvathy, additional, Arts, Peer, additional, Shahrin, Nur H., additional, Feurstein, Simone, additional, Rawlings, Lesley, additional, Lawrence, David M., additional, Andrews, James, additional, King‐Smith, Sarah L., additional, Harvey, Natasha L., additional, Brown, Anna L., additional, Scott, Hamish S., additional, and Hahn, Christopher N., additional

Published
2021
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35. The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Author

Homan, Claire C., primary, King-Smith, Sarah L., additional, Lawrence, David M., additional, Arts, Peer, additional, Feng, Jinghua, additional, Andrews, James, additional, Armstrong, Mark, additional, Ha, Thuong, additional, Dobbins, Julia, additional, Drazer, Michael W., additional, Yu, Kai, additional, Bödör, Csaba, additional, Cantor, Alan, additional, Cazzola, Mario, additional, Degelman, Erin, additional, DiNardo, Courtney D., additional, Duployez, Nicolas, additional, Favier, Remi, additional, Fröhling, Stefan, additional, Fitzgibbon, Jude, additional, Klco, Jeffery M., additional, Krämer, Alwin, additional, Kurokawa, Mineo, additional, Lee, Joanne, additional, Malcovati, Luca, additional, Morgan, Neil V., additional, Natsoulis, Georges, additional, Owen, Carolyn, additional, Patel, Keyur P., additional, Preudhomme, Claude, additional, Raslova, Hana, additional, Rienhoff, Hugh, additional, Ripperger, Tim, additional, Schulte, Rachael, additional, Tawana, Kiran, additional, Velloso, Elvira, additional, Yan, Benedict, additional, Liu, Paul, additional, Godley, Lucy A., additional, Schreiber, Andreas W., additional, Hahn, Christopher N., additional, Scott, Hamish S., additional, and Brown, Anna L., additional

Published
2021
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36. Additional file 3 of Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Author

Angelis, Carla De, Byrne, Alicia B., Morrow, Rebecca, Jinghua Feng, Ha, Thuong, Wang, Paul, Schreiber, Andreas W., Babic, Milena, Taranath, Ajay, Manton, Nick, King-Smith, Sarah L., Quenten Schwarz, Arts, Peer, Scott, Hamish S., and Barnett, Christopher

Abstract

Additional file 3: Figure S3. Conservation of the LAMC3 variants. a The arginine residue at the location of the p.Arg356Cys variant (red box) is highly conserved across 100 species. The introduction of a cysteine at amino acid 356 may disrupt the completely conserved disulphide binding pattern of cysteines (blue boxes) in the region. b The glutamine residue at the location of the p.Gln909Arg variant (red box) is highly conserved across 100 species.

Published
2021
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37. Additional file 2 of Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

Author

Van Deuren, Rosanne C., Arts, Peer, Cavalli, Giulio, Jaeger, Martin, Steehouwer, Marloes, Van De Vorst, Maartje, Gilissen, Christian, Joosten, Leo A. B., Dinarello, Charles A., Mhlanga, Musa M., Kumar, Vinod, Netea, Mihai G., Van De Veerdonk, Frank L., and Hoischen, Alexander

Abstract

Additional file 2: Supplementary Figures. Figure S1. Baseline characteristics of healthy individuals (n = 463) included in analysis. Figure S2. Average coverage depth per gene and overall for healthy individuals (n = 463) included in analysis. Figure S3. Correlation plots of significantly associated sets.

Published
2021
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38. Additional file 2 of Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Author

Angelis, Carla De, Byrne, Alicia B., Morrow, Rebecca, Jinghua Feng, Ha, Thuong, Wang, Paul, Schreiber, Andreas W., Babic, Milena, Taranath, Ajay, Manton, Nick, King-Smith, Sarah L., Quenten Schwarz, Arts, Peer, Scott, Hamish S., and Barnett, Christopher

Abstract

Additional file 2: Figure S2. Family pedigree and segregation of the LAMC3 variants by Sanger sequencing. Both LAMC3 variants were confirmed to be present in compound heterozygosity in the proband. The paternal variant, p.Arg356Cys, and the maternal variant, p.Gln909Arg, were confirmed as heterozygous. Only the paternal variant was present in unaffected sibling 1, and only the maternal variant was present in the current unaffected pregnancy. The third unaffected sibling carries neither variant.

Published
2021
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39. Additional file 4 of Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Author

Angelis, Carla De, Byrne, Alicia B., Morrow, Rebecca, Jinghua Feng, Ha, Thuong, Wang, Paul, Schreiber, Andreas W., Babic, Milena, Taranath, Ajay, Manton, Nick, King-Smith, Sarah L., Quenten Schwarz, Arts, Peer, Scott, Hamish S., and Barnett, Christopher

Abstract

Additional file 4: Table 1. Exome sequencing results and variant filtering outcomes.

Published
2021
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40. Additional file 1 of Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Author

Angelis, Carla De, Byrne, Alicia B., Morrow, Rebecca, Jinghua Feng, Ha, Thuong, Wang, Paul, Schreiber, Andreas W., Babic, Milena, Taranath, Ajay, Manton, Nick, King-Smith, Sarah L., Quenten Schwarz, Arts, Peer, Scott, Hamish S., and Barnett, Christopher

Abstract

Additional file 1: Figure S1. Post mortem neurological findings. a NeuN positive nuclear labelling of primitive neurons within the heterotopic nodules. (Scale = 100 µm) b Thickening of the richly vascular germinal matrix with an adjacent heterotopic nodule. (Scale = 500 µm) c Cortical mantle showing normal layering and normal overlying meninges. (Scale = 500 µm).

Published
2021
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41. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

Author

Vermeer, Sascha, Hoischen, Alexander, Meijer, Rowdy P.P., Gilissen, Christian Neveling, Kornelia, Wieskamp, Nienke, Brouwer, Arjan de, Koenig, Michel, Anheim, Mathieu, Assoum, Mirna, Drouot, Nathalie, Todorovic, Slobodanka, Milic-Rasic, Vedrana, Lochmuller, Hanns, Stevanin, Giovanni, Goizet, Cyril, David, Albert, Durr, Alexander, Brice, Alexis, Kremer, Berry, van de Warrenburg, Bart P.C., Schijvenaars, Mascha M.V.A.P., Heister, Angelien, Kwint, Michael, Arts, Peer, van der Wijst, Jenny, Veltman, Joris, Kamsteeg, Erik-Jan, Scheffer, Hans, and Knoers, Nine

Subjects
Gene mutations -- Analysis, Cerebellar ataxia -- Genetic aspects, Cerebellar ataxia -- Care and treatment, Biological sciences
Abstract

Next-generation sequencing technology is combined with SNP array-based linkage analysis and targeted resequencing of relevant sequencing in the linkage interval with is used to identify gene mutation and elucidate its association with autosomal-recessive cerebellar ataxia. The findings demonstrated the powerful application of initial homozygosity mapping with next-generation sequencing technology to identify genes involved in autosomal recessive diseases.

Published
2010

42. Exome sequencing identifies WDR35 variants involved in sensenbrenner syndrome

Author

Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, Lier, Bart van, Steehouwer, Marloes, Reeuwijk, Jeroen van, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., and Brunner, Han G.

Subjects
Codon -- Research, Ectodermal dysplasia -- Genetic aspects, Gene mutations -- Analysis, Genetic engineering -- Analysis, Population genetics -- Research, Biological sciences
Abstract

The exomes of two unrelated cranioectodermal dysplasia (CED) patients were sequenced to identify compound heterozygous mutations in WDR35 as the cause of the disease in each of two patients independently. The results provided insight into the potential use of sequencing the exome of a single sporadic patient to find the causative gene and characterized WDR35 as homologous to TULP4 as an intraflagellar transport component, confirming that sensenbrenner syndrome is a ciliary disorder.

Published
2010

43. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

Author

Nikopoulos, Konstantinos, Gilissen, Christian, Hoischen, Alexander, van Nouhuys, C. Erik, Boonstra, F. Nienke, Blokland, Ellen A.W., Arts, Peer, Wieskamp, Nienke, Strom, Tim M., Ayuso, Carmen, Tilanus, Mauk A.D., Bouwhuis, Sanne, Mukhopadhyay, Arijit, Scheffer, Hans, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., and Collin, Rob W.J.

Subjects
Nucleotide sequence -- Research, Linkage (Genetics) -- Research, Gene mutations -- Research, Biological sciences
Abstract

A study applies next-generation sequencing of a 40 Mb linkage interval in affected persons to identify the gene which causes autosomal-dominant familial exudative vitreoretinopathy (FEVR). Results reveal that mutations in the TSPAN12 are associated with FEVR incidence.

Published
2010

44. GATA2 deficiency syndrome: A decade of discovery

Author

Homan, Claire, primary, Venugopal, Parvathy, additional, Arts, Peer, additional, Shahrin, Nur Hezrin, additional, Feurstein, Simone, additional, Rawlings, Lesley, additional, Lawrence, David, additional, Andrews, James, additional, King-Smith, Sarah, additional, Brown, Anna, additional, Scott, Hamish, additional, and Hahn, Christopher, additional

Published
2021
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45. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

Author

Batkovskyte, Dominyka, primary, McKenzie, Fiona, additional, Taylan, Fulya, additional, Simsek-Kiper, Pelin Ozlem, additional, Nikkel, Sarah M, additional, Ohashi, Hirofumi, additional, Stevenson, Roger E, additional, Ha, Thuong, additional, Cavalcanti, Denise P, additional, Miyahara, Hiroyuki, additional, Skinner, Steven A, additional, Aguirre, Miguel A, additional, Akçören, Zühal, additional, Utine, Gulen Eda, additional, Chiu, Tillie, additional, Shimizu, Kenji, additional, Hammarsjö, Anna, additional, Boduroglu, Koray, additional, Moore, Hannah W, additional, Louie, Raymond J, additional, Arts, Peer, additional, Merrihew, Allie N, additional, Babic, Milena, additional, Jackson, Matilda R, additional, Papadogiannakis, Nikos, additional, Lindstrand, Anna, additional, Nordgren, Ann, additional, Barnett, Christopher P, additional, Scott, Hamish S, additional, Chagin, Andrei S, additional, Nishimura, Gen, additional, and Grigelioniene, Giedre, additional

Published
2020
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46. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2and DDX41

Author

Brown, Anna L., Homan, Claire, Drazer, Michael W., Yu, Kai, Lawrence, David, Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew, McNeely, Kelsey, Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah, Cheah, Jesse JC, Armstrong, Mark, Bödör, Csaba, Wang, Paul, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V, Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh Young, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira Deolinda Rodrigues Pereira, Yan, Benedict, Sood, Raman, Hsu, Amy, Holland, Steven M., Phillips, Kerry, Poplawski, Nicola, Babic, Milena, Kwon Kim, Erika M, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D, Cooney, Julian, Susman, Rachel, Fox, Lucy C, Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Schreiber, Andreas W, Hahn, Christopher N, Scott, Hamish S, Liu, Paul P., and Godley, Lucy A.

Published
2022
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47. Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in transto the frameshifting FOXF1variant

Author

Yıldız Bölükbaşı, Esra, Karolak, Justyna A., Szafranski, Przemyslaw, Gambin, Tomasz, Matsika, Admire, McManus, Sam, Scott, Hamish S., Arts, Peer, Ha, Thuong, Barnett, Christopher P., Rodgers, Jonathan, and Stankiewicz, Paweł

Abstract

Heterozygous single nucleotide variants (SNVs) or copy-number variant deletions involving FOXF1or its distant lung-specific enhancer on chromosome 16q24.1 have been identified in 80–90% of patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe a four-generation family with a deceased ACDMPV neonate, her sibling from the electively terminated pregnancy, healthy mother with a history of pulmonary arterial hypertension (PAH), an unaffected aunt, an aunt deceased due to findings consistent with ACDMPV, and a reportedly unaffected grandmother, all with the frameshifting variant c.881_902dup (p.Gly302Profs*46) in FOXF1, and a deceased great-grandmother with a history of PAH. Genome sequencing analyses in the proband’s unaffected mother revealed a non-coding putative regulatory SNV rs560517434-A within the lung-specific distant FOXF1enhancer in transto the FOXF1frameshift mutation. Functional testing of this variant using an in vitro luciferase reporter assay showed that it increased FOXF1promoter activity 10-fold. Our studies further demonstrate that non-coding SNVs in the FOXF1enhancer region can rescue the lethal ACDMPV phenotype and support the compound inheritance gene dosage model.

Published
2022
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48. STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

Author

van de Veerdonk, Frank L., Plantinga, Theo S., Hoischen, Alexander, Smeekens, Sanne P., Joosten, Leo A.B., Gilissen, Christian, Arts, Peer, Rosentul, Diana C., Carmichael, Andrew J., Smits-van der Graaf, Chantal A.A., Kullberg, Bart Jan, van der Meer, Jos W.M., Lilic, Desa, Veltman, Joris A., and Netea, Mihai G.

Published
2011

49. A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

Author

Fox, Lucy C., primary, Tan, Michelle, additional, Brown, Anna L., additional, Arts, Peer, additional, Thompson, Ella, additional, Ryland, Georgina L., additional, Lickiss, Jennifer, additional, Scott, Hamish S., additional, Poplawski, Nicola K., additional, Phillips, Kerry, additional, Came, Neil A., additional, James, Paul, additional, Ting, Stephen B., additional, Ritchie, David S., additional, Szer, Jeff, additional, Hahn, Christopher N., additional, Schwarer, Anthony, additional, and Blombery, Piers, additional

Published
2020
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50. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Author

Brown, Anna L., primary, Arts, Peer, primary, Carmichael, Catherine L., primary, Babic, Milena, primary, Dobbins, Julia, primary, Chong, Chan-Eng, primary, Schreiber, Andreas W., primary, Feng, Jinghua, primary, Phillips, Kerry, primary, Wang, Paul P. S., primary, Ha, Thuong, primary, Homan, Claire C., primary, King-Smith, Sarah L., primary, Rawlings, Lesley, primary, Vakulin, Cassandra, primary, Dubowsky, Andrew, primary, Burdett, Jessica, primary, Moore, Sarah, primary, McKavanagh, Grace, primary, Henry, Denae, primary, Wells, Amanda, primary, Mercorella, Belinda, primary, Nicola, Mario, primary, Suttle, Jeffrey, primary, Wilkins, Ella, primary, Li, Xiao-Chun, primary, Michaud, Joelle, primary, Brautigan, Peter, primary, Cannon, Ping, primary, Altree, Meryl, primary, Jaensch, Louise, primary, Fine, Miriam, primary, Butcher, Carolyn, primary, D’Andrea, Richard J., primary, Lewis, Ian D., primary, Hiwase, Devendra K., primary, Papaemmanuil, Elli, primary, Horwitz, Marshall S., primary, Natsoulis, Georges, primary, Rienhoff, Hugh Y., primary, Patton, Nigel, primary, Mapp, Sally, primary, Susman, Rachel, primary, Morgan, Susan, primary, Cooney, Julian, primary, Currie, Mark, primary, Popat, Uday, primary, Bochtler, Tilmann, primary, Izraeli, Shai, primary, Bradstock, Kenneth, primary, Godley, Lucy A., primary, Krämer, Alwin, primary, Fröhling, Stefan, primary, Wei, Andrew H., primary, Forsyth, Cecily, primary, Mar Fan, Helen, primary, Poplawski, Nicola K., primary, Hahn, Christopher N., primary, and Scott, Hamish S., primary

Published
2020
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