962 results on '"Hoischen, Alexander"'
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2. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
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Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., and Laurie, Steven
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- 2024
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3. Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
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Lecoquierre, François, Cassinari, Kévin, Drouot, Nathalie, May, Angèle, Fourneaux, Steeve, Charbonnier, Francoise, Derambure, Celine, Coutant, Sophie, Saugier-Veber, Pascale, Hoischen, Alexander, Charbonnier, Camille, and Nicolas, Gaël
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- 2024
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4. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
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Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren CW, Pacillo, Lucia, James, Alyssa E, Murrell, Jill R, Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L, Lu, Henry Y, Chua, Gilbert T, Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P, Amodio, Donato, San Tam, Issan Yee, Chan, Gavin Shueng Wai, Sharma, Ashish A, Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A, Lee, Jessica J, Matthews, Allison, Seear, Michael, Turvey, Alexandra K, Philips, Rachael L, Brown-Whitehorn, Terri F, Gray, Christopher J, Izumi, Kosuke, Treat, James R, Wood, Kathleen H, Lack, Justin, Khleborodova, Asya, Niemela, Julie E, Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I, Yang, Jing, Chan, Koon Wing, Da Rosa Duque, Jaime Sou, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M, Morris, Emma C, Rosenzweig, Sergio D, O’Shea, John J, Wasserman, Wyeth W, Bedford, H Melanie, van Karnebeek, Clara DM, Palma, Paolo, Burns, Siobhan O, Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J, Parvaneh, Nima, Van Nguyen, Anh Thi, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L, Lau, Yu Lung, Béziat, Vivien, and Turvey, Stuart E
- Subjects
Genetics ,Rare Diseases ,Clinical Research ,2.1 Biological and endogenous factors ,Aetiology ,Inflammatory and immune system ,Humans ,STAT6 Transcription Factor ,Gain of Function Mutation ,Asthma ,Food Hypersensitivity ,Immunoglobulin E ,Medical and Health Sciences ,Immunology - Abstract
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis. The cases were either sporadic (seven kindreds) or followed an autosomal dominant inheritance pattern (three kindreds). All patients carried monoallelic rare variants in STAT6 and functional studies established their gain-of-function (GOF) phenotype with sustained STAT6 phosphorylation, increased STAT6 target gene expression, and TH2 skewing. Precision treatment with the anti-IL-4Rα antibody, dupilumab, was highly effective improving both clinical manifestations and immunological biomarkers. This study identifies heterozygous GOF variants in STAT6 as a novel autosomal dominant allergic disorder. We anticipate that our discovery of multiple kindreds with germline STAT6 GOF variants will facilitate the recognition of more affected individuals and the full definition of this new primary atopic disorder.
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- 2023
5. Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
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Essers, Rick, Lebedev, Igor N., Kurg, Ants, Fonova, Elizaveta A., Stevens, Servi J. C., Koeck, Rebekka M., von Rango, Ulrike, Brandts, Lloyd, Deligiannis, Spyridon Panagiotis, Nikitina, Tatyana V., Sazhenova, Elena A., Tolmacheva, Ekaterina N., Kashevarova, Anna A., Fedotov, Dmitry A., Demeneva, Viktoria V., Zhigalina, Daria I., Drozdov, Gleb V., Al-Nasiry, Salwan, Macville, Merryn V. E., van den Wijngaard, Arthur, Dreesen, Jos, Paulussen, Aimee, Hoischen, Alexander, Brunner, Han G., Salumets, Andres, and Zamani Esteki, Masoud
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- 2023
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6. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
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Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Simons, Annet, and Hoischen, Alexander
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- 2024
- Full Text
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7. Stratified analyses refine association between TLR7 rare variants and severe COVID-19
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Rimoldi, Valeria, Paraboschi, Elvezia M., Bandera, Alessandra, Peyvandi, Flora, Grasselli, Giacomo, Blasi, Francesco, Malvestiti, Francesco, Pelusi, Serena, Bianco, Cristiana, Miano, Lorenzo, Lombardi, Angela, Invernizzi, Pietro, Gerussi, Alessio, Citerio, Giuseppe, Biondi, Andrea, Valsecchi, Maria Grazia, Cazzaniga, Marina Elena, Foti, Giuseppe, Beretta, Ilaria, D'Angiò, Mariella, Bettini, Laura Rachele, Farré, Xavier, Iraola-Guzmán, Susana, Kogevinas, Manolis, Castaño-Vinyals, Gemma, Garcia-Etxebarria, Koldo, Nafria, Beatriz, D'Amato, Mauro, Palom, Adriana, Begg, Colin, Clohisey, Sara, Hinds, Charles, Horby, Peter, Knight, Julian, Ling, Lowell, Maslove, David, McAuley, Danny, Millar, Johnny, Montgomery, Hugh, Nichol, Alistair, Openshaw, Peter J.M., Pereira, Alexandre C., Ponting, Chris P., Rowan, Kathy, Semple, Malcolm G., Shankar-Hari, Manu, Summers, Charlotte, Walsh, Timothy, Baillie, J. Kenneth, Aravindan, Latha, Armstrong, Ruth, Biggs, Heather, Boz, Ceilia, Brown, Adam, Clark, Richard, Coutts, Audrey, Coyle, Judy, Cullum, Louise, Das, Sukamal, Day, Nicky, Donnelly, Lorna, Duncan, Esther, Fawkes, Angie, Fineran, Paul, Fourman, Max Head, Furlong, Anita, Furniss, James, Gallagher, Bernadette, Gilchrist, Tammy, Golightly, Ailsa, Griffiths, Fiona, Hafezi, Katarzyna, Hamilton, Debbie, Hendry, Ross, Law, Andy, Law, Dawn, Law, Rachel, Law, Sarah, Lidstone-Scott, Rebecca, Macgillivray, Louise, Maclean, Alan, Mal, Hanning, McCafferty, Sarah, Mcmaster, Ellie, Meikle, Jen, Moore, Shona C., Morrice, Kirstie, Murphy, Lee, Murphy, Sheena, Hellen, Mybaya, Oosthuyzen, Wilna, Zheng, Chenqing, Chen, Jiantao, Parkinson, Nick, Paterson, Trevor, Schon, Katherine, Stenhouse, Andrew, Das, Mihaela, Swets, Maaike, Szoor-McElhinney, Helen, Taneski, Filip, Turtle, Lance, Wackett, Tony, Ward, Mairi, Weaver, Jane, Wrobel, Nicola, Zechner, Marie, Arbane, Gill, Bociek, Aneta, Campos, Sara, Grau, Neus, Jones, Tim Owen, Lim, Rosario, Marotti, Martina, Ostermann, Marlies, Whitton, Christopher, Alldis, Zoe, Astin-Chamberlain, Raine, Bibi, Fatima, Biddle, Jack, Blow, Sarah, Bolton, Matthew, Borra, Catherine, Bowles, Ruth, Burton, Maudrian, Choudhury, Yasmin, Collier, David, Cox, Amber, Easthope, Amy, Ebano, Patrizia, Fotiadis, Stavros, Gurasashvili, Jana, Halls, Rosslyn, Hartridge, Pippa, Kallon, Delordson, Kassam, Jamila, Lancoma-Malcolm, Ivone, Matharu, Maninderpal, May, Peter, Mitchelmore, Oliver, Newman, Tabitha, Patel, Mital, Pheby, Jane, Pinzuti, Irene, Prime, Zoe, Prysyazhna, Oleksandra, Shiel, Julian, Taylor, Melanie, Tierney, Carey, Wood, Suzanne, Zak, Anne, Zongo, Olivier, Bonner, Stephen, Hugill, Keith, Jones, Jessica, Liggett, Steven, Headlam, Evie, Bandla, Nageswar, Gellamucho, Minnie, Davies, Michelle, Thompson, Christopher, Abdelrazik, Marwa, Bakthavatsalam, Dhanalakshmi, Elhassan, Munzir, Ganesan, Arunkumar, Haldeos, Anne, Moreno-Cuesta, Jeronimo, Purohit, Dharam, 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Crowe, Rebecca, Fernandes, Rita, Herdman-Grant, Rosaleen, Joseph, Anna, O'Connor, Denise, Allen, Meryem, Loveridge, Adam, McKenley, India, Morino, Eriko, Naranjo, Andres, Simms, Richard, Sollesta, Kathryn, Swain, Andrew, Venkatesh, Harish, Khera, Jacyntha, Fox, Jonathan, Andrew, Gillian, Barclay, Lucy, Callaghan, Marie, Campbell, Rachael, Clark, Sarah, Hope, Dave, Marshall, Lucy, McCulloch, Corrienne, Briton, Kate, Singleton, Jo, Birch, Sohphie, Brimfield, Lutece, Daly, Zoe, Pogson, David, Rose, Steve, Battle, Ceri, Brinkworth, Elaine, Harford, Rachel, Murphy, Carl, Newey, Luke, Rees, Tabitha, Williams, Marie, Arnold, Sophie, Polgarova, Petra, Stroud, Katerina, Meaney, Eoghan, Jones, Megan, Ng, Anthony, Agrawal, Shruti, Pathan, Nazima, White, Deborah, Daubney, Esther, Elston, Kay, Grauslyte, Lina, Hussain, Musarat, Phull, Mandeep, Pogreban, Tatiana, Rosaroso, Lace, Salciute, Erika, Franke, George, Wong, Joanna, George, Aparna, Ortiz-Ruiz de Gordoa, Laura, Peasgood, Emily, Phillips, 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Muhammad, Keith, Sarah, Khan, Meherunnisa, Ryan-Smith, Janet, Springle, Philippa, Thomas, Jacqueline, Truman, Nick, Saad, Samuel, Coleman, Dabheoc, Fine, Christopher, Matt, Roseanna, Gay, Bethan, Dalziel, Jack, Ali, Syamlan, Goodchild, Drew, Harling, Rhiannan, Bhatterjee, Ravi, Goddard, Wendy, Davison, Chloe, Duberly, Stephen, Hargreaves, Jeanette, Bolton, Rachel, Davey, Miriam, Golden, David, Seaman, Rebecca, Cherian, Shiney, Cutler, Sean, Heron, Anne Emma, Roynon-Reed, Anna, Szakmany, Tamas, Williams, Gemma, Richards, Owen, Cheema, Yusuf, Brooke, Hollie, Buckley, Sarah, Suarez, Jose Cebrian, Charlesworth, Ruth, Hansson, Karen, Norris, John, Poole, Alice, Rose, Alastair, Sandhu, Rajdeep, Sloan, Brendan, Smithson, Elizabeth, Thirumaran, Muthu, Wagstaff, Veronica, Metcalfe, Alexandra, Brunton, Mark, Caterson, Jess, Coles, Holly, Frise, Matthew, Rai, Sabi Gurung, Jacques, Nicola, Keating, Liza, Tilney, Emma, Bartley, Shauna, Bhuie, Parminder, Gibson, Sian, Lyle, Amanda, McNeela, Fiona, 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Martindale, Tim, Meadows, Emma, Raynard, Dana, Thirlwall, Yvette, Helm, David, Margalef, Jordi, Criste, Kristine, Cusack, Rebecca, Golder, Kim, Golding, Hannah, Jones, Oliver, Leggett, Samantha, Male, Michelle, Marani, Martyna, Prager, Kirsty, Williams, Toran, Roberts, Belinda, Salmon, Karen, Anderson, Peter, Archer, Katie, Austin, Karen, Davis, Caroline, Durie, Alison, Kelsall, Olivia, Thrush, Jessica, Vigurs, Charlie, Wild, Laura, Wood, Hannah-Louise, Tranter, Helen, Harrison, Alison, Cowley, Nicholas, McAlindon, Michael, Burtenshaw, Andrew, Digby, Stephen, Low, Emma, Morgan, Aled, Cother, Naiara, Rankin, Tobias, Clayton, Sarah, McCurdy, Alex, Ahmed, Cecilia, Baines, Balvinder, Clamp, Sarah, Colley, Julie, Haq, Risna, Hayes, Anne, Hulme, Jonathan, Hussain, Samia, Joseph, Sibet, Kumar, Rita, Maqsood, Zahira, Purewal, Manjit, Benham, Leonie, Bradshaw, Zena, Brown, Joanna, Caswell, Melanie, Cupitt, Jason, Melling, Sarah, Preston, Stephen, Slawson, Nicola, Stoddard, Emma, Warden, Scott, 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Butcher, Deborah, O'Sullivan, Susie, Butterworth-Cowin, Nicola, Ahmad, Norfaizan, Barker, Joann, Bauchmuller, Kris, Bird, Sarah, Cawthron, Kay, Harrington, Kate, Jackson, Yvonne, Kibutu, Faith, Lenagh, Becky, Masuko, Shamiso, Mills, Gary H., Raithatha, Ajay, Wiles, Matthew, Willson, Jayne, Newell, Helen, Lye, Alison, Nwafor, Lorenza, Jarman, Claire, Rowland-Jones, Sarah, Foote, David, Cole, Joby, Thompson, Roger, Watson, James, Hesseldon, Lisa, Macharia, Irene, Chetam, Luke, Smith, Jacqui, Ford, Amber, Anderson, Samantha, Birchall, Kathryn, Housley, Kay, Walker, Sara, Milner, Leanne, Hanratty, Helena, Trower, Helen, Phillips, Patrick, Oxspring, Simon, Donne, Ben, Jardine, Catherine, Williams, Dewi, Hay, Alasdair, Flanagan, Rebecca, Hughes, Gareth, Latham, Scott, McKenna, Emma, Anderson, Jennifer, Hull, Robert, Rhead, Kat, Cruz, Carina, Pattison, Natalie, Charnock, Rob, McFarland, Denise, Cosgrove, Denise, Ahmed, Ashar, Morris, Anna, Jakkula, Srinivas, Ali, Asifa, Brady, Megan, Dale, Sam, Dance, Annalisa, Gledhill, Lisa, Greig, Jill, Hanson, Kathryn, Holdroyd, Kelly, Home, Marie, Kelly, Diane, Kitson, Ross, Matapure, Lear, Melia, Deborah, Mellor, Samantha, Nortcliffe, Tonicha, Pinnell, Jez, Robinson, Matthew, Shaw, Lisa, Shaw, Ryan, Thomis, Lesley, Wilson, Alison, Wood, Tracy, Bayo, Lee-Ann, Merwaha, Ekta, Ishaq, Tahira, Hanley, Sarah, Hibbert, Meg, Tetla, Dariusz, Woodford, Chrsitopher, Durga, Latha, Kennard-Holden, Gareth, Branney, Debbie, Frankham, Jordan, Pitts, Sally, White, Nigel, Laha, Shondipon, Verlander, Mark, Williams, Alexandra, Altabaibeh, Abdelhakim, Alvaro, Ana, Gilbert, Kayleigh, Ma, Louise, Mostoles, Loreta, Parmar, Chetan, Simpson, Kathryn, Jetha, Champa, Booker, Lauren, Pratley, Anezka, Adams, Colene, Agasou, Anita, Arden, Tracie, Bowes, Amy, Boyle, Pauline, Beekes, Mandy, Button, Heather, Capps, Nigel, Carnahan, Mandy, Carter, Anne, Childs, Danielle, Donaldson, Denise, Hard, Kelly, Hurford, Fran, Hussain, Yasmin, Javaid, Ayesha, Jones, James, Jose, Sanal, Leigh, Michael, Martin, Terry, Millward, Helen, Motherwell, Nichola, Rikunenko, Rachel, Stickley, Jo, Summers, Julie, Ting, Louise, Tivenan, Helen, Tonks, Louise, Wilcox, Rebecca, Holland, Maureen, Keenan, Natalie, Lyons, Marc, Wassall, Helen, Marsh, Chris, Mahenthran, Mervin, Carter, Emma, Kong, Thomas, Blackman, Helen, Creagh-Brown, Ben, Donlon, Sinead, Michalak-Glinska, Natalia, Mtuwa, Sheila, Pristopan, Veronika, Salberg, Armorel, Smith, Eleanor, Stone, Sarah, Piercy, Charles, Verula, Jerik, Burda, Dorota, Montaser, Rugia, Harden, Lesley, Mayangao, Irving, Marriott, Cheryl, Bradley, Paul, Harris, Celia, Anderson, Susan, Andrews, Eleanor, Birch, Janine, Collins, Emma, Hammerton, Kate, O'Leary, Ryan, Clark, Michele, Purvis, Sarah, Barber, Russell, Hewitt, Claire, Hilldrith, Annette, Jackson-Lawrence, Karen, Shepardson, Sarah, Wills, Maryanne, Butler, Susan, Tavares, Silvia, Cunningham, Amy, Hindale, Julia, Arif, Sarwat, Bean, Sarah, Burt, Karen, Spivey, Michael, Demetriou, Carrie, Eckbad, Charlotte, Hierons, Sarah, Howie, Lucy, Mitchard, Sarah, Ramos, Lidia, Serrano-Ruiz, Alfredo, White, Katie, Kelly, Fiona, Cristiano, Daniele, Dormand, Natalie, Farzad, Zohreh, Gummadi, Mahitha, Liyanage, Kamal, Patel, Brijesh, Salmi, Sara, Sloane, Geraldine, Thwaites, Vicky, Varghese, Mathew, Zborowski, Anelise C., Allan, John, Geary, Tim, Houston, Gordon, Meikle, Alistair, O'Brien, Peter, Forsey, Miranda, Kaliappan, Agilan, Nicholson, Anne, Riches, Joanne, Vertue, Mark, Allan, Elizabeth, Darlington, Kate, Davies, Ffyon, Easton, Jack, Kumar, Sumit, Lean, Richard, Menzies, Daniel, Pugh, Richard, Qiu, Xinyi, Davies, Llinos, Williams, Hannah, Scanlon, Jeremy, Davies, Gwyneth, Mackay, Callum, Lewis, Joannne, Rees, Stephanie, Oblak, Metod, Popescu, Monica, Thankachen, Mini, Higham, Andrew, Simpson, Kerry, Craig, Jayne, Baruah, Rosie, Morris, Sheila, Ferguson, Susie, Shepherd, Amy, Prockter Moore, Luke Stephen, Vizcaychipi, Marcela Paola, Gomes de Almeida Martins, Laura, Carungcong, Jaime, Mohamed Ali, Inthakab Ali, Beaumont, Karen, Blunt, Mark, Coton, Zoe, Curgenven, Hollie, Elsaadany, Mohamed, Fernandes, Kay, Ally, Sameena Mohamed, Rangarajan, Harini, Sarathy, Varun, Selvanayagam, Sivarupan, Vedage, Dave, White, Matthew, Gill, Mandy, Paul, Paul, Ratnam, Valli, Shelton, Sarah, Wynter, Inez, Carmody, Siobhain, Page, Valerie Joan, Beith, Claire Marie, Black, Karen, Clements, Suzanne, Morrison, Alan, Strachan, Dominic, Taylor, Margaret, Clarkson, Michelle, D'Sylva, Stuart, Norman, Kathryn, Auld, Fiona, Donnachie, Joanne, Edmond, Ian, Prentice, Lynn, Runciman, Nikole, Salutous, Dario, Symon, Lesley, Todd, Anne, Turner, Patricia, Short, Abigail, Sweeney, Laura, Murdoch, Euan, Senaratne, Dhaneesha, Hill, Michaela, Kannan, Thogulava, Laura, Wild, Crawley, Rikki, Crew, Abigail, Cunningham, Mishell, Daniels, Allison, Harrison, Laura, Hope, Susan, Inweregbu, Ken, Jones, Sian, Lancaster, Nicola, Matthews, Jamie, Nicholson, Alice, Wray, Gemma, Langton, Helen, Prout, Rachel, Watters, Malcolm, Novis, Catherine, Barron, Anthony, Collins, Ciara, Kaul, Sundeep, Passmore, Heather, Prendergast, Claire, Reed, Anna, Rogers, Paula, Shokkar, Rajvinder, Woodruff, Meriel, Middleton, Hayley, Polgar, Oliver, Nolan, Claire, Mahay, Kanta, Collier, Dawn, Hormis, Anil, Maynard, Victoria, Graham, Cheryl, Walker, Rachel, Knights, Ellen, Price, Alicia, Thomas, Alice, Thorpe, Chris, Behan, Teresa, Burnett, Caroline, Hatton, Jonathan, Heeney, Elaine, Mitra, Atideb, Newton, Maria, Pollard, Rachel, Stead, Rachael, Amin, Vishal, Anastasescu, Elena, Anumakonda, Vikram, Karthik, Komala, Kausar, Rizwana, Reid, Karen, Smith, Jacqueline, Imeson-Wood, Janet, Skinner, Denise, Gaylard, Jane, Mullan, Dee, Newman, Julie, Brown, Alison, Crickmore, Vikki, Debreceni, Gabor, Wilkins, Joy, Nicol, Liz, Reece-Anthony, Rosie, Birt, Mark, Ghosh, Alison, Williams, Emma, Allen, Louise, Beranova, Eva, Crisp, Nikki, Deery, Joanne, Hazelton, Tracy, Knight, Alicia, Price, Carly, Tilbey, Sorrell, Turki, Salah, Turney, Sharon, Cooper, Joshua, Finch, Cheryl, Liderth, Sarah, Quinn, Alison, Waddington, Natalia, Coventry, Tina, Fowler, Susan, MacMahon, Michael, McGregor, Amanda, Cowley, Anne, Highgate, Judith, Gregory, Jane, O'Connell, Susan, Smith, Tim, Barberis, Luigi, Gopal, Shameer, Harris, Nichola, Lake, Victoria, Metherell, Stella, Radford, Elizabeth, Daniel, Amelia, Finn, Joanne, Saha, Rajnish, White, Nikki, Donnison, Phil, Trim, Fiona, Eapen, Beena, Birch, Jenny, Bough, Laura, Goodsell, Josie, Tutton, Rebecca, Williams, Patricia, Williams, Sarah, Winter-Goodwin, Barbara, Nichol, Ailstair, Brickell, Kathy, Smyth, Michelle, Murphy, Lorna, Coetzee, Samantha, Gales, Alistair, Otahal, Igor, Raj, Meena, Sell, Craig, Hilltout, Paula, Evitts, Jayne, Tyler, Amanda, Waldron, Joanne, Beesley, Kate, Board, Sarah, Kubisz-Pudelko, Agnieszka, Lewis, Alison, Perry, Jess, Pippard, Lucy, Wood, Di, Buckley, Clare, Barry, Peter, Flint, Neil, Rekha, Patel, Hales, Dawn, Bunni, Lara, Jennings, Claire, Latif, Monica, Marshall, Rebecca, Subramanian, Gayathri, McGuigan, Peter J., Wasson, Christopher, Finn, Stephanie, Green, Jackie, Collins, Erin, King, Bernadette, Campbell, Andy, Smuts, Sara, Duffield, Joseph, Smith, Oliver, Mallon, Lewis, Claire, Watkins, Botfield, Liam, Butler, Joanna, Dexter, Catherine, Fletcher, Jo, Garg, Atul, Kuravi, Aditya, Ranga, Poonam, Virgilio, Emma, Belagodu, Zakaula, Fuller, Bridget, Gherman, Anca, Olufuwa, Olumide, Paramsothy, Remi, Stuart, Carmel, Oakley, Naomi, Kamundi, Charlotte, Tyl, David, Collins, Katy, Silva, Pedro, Taylor, June, King, Laura, Coates, Charlotte, Crowley, Maria, Wakefield, Phillipa, Beadle, Jane, Johnson, Laura, Sargeant, Janet, Anderson, Madeleine, Brady, Ailbhe, Chan, Rebekah, Little, Jeff, McIvor, Shane, Prady, Helena, Whittle, Helen, Mathew, Bijoy, Attwood, Ben, Parsons, Penny, Ward, Geraldine, Bremmer, Pamela, Joe, West, Tracy, Baird, Jim, Ruddy, Davies, Ellie, Sathe, Sonia, Dennis, Catherine, McGregor, Alastair, Parris, Victoria, Srikaran, Sinduya, Sukha, Anisha, Clarke, Noreen, Whiteside, Jonathan, Mascarenhas, Mairi, Donaldson, Avril, Matheson, Joanna, Barrett, Fiona, O'Hara, Marianne, Okeefe, Laura, Bradley, Clare, Eastgate-Jackson, Christine, Filipe, Helder, Martin, Daniel, Maharajh, Amitaa, Garcia, Sara Mingo, Pakou, Glykeria, De Neef, Mark, Dent, Kathy, Horsley, Elizabeth, Akhtar, Muhmmad Nauman, Pearson, Sandra, Potoczna, Dorota, Spencer, Sue, Clapham, Melanie, Harper, Rosemary, Poultney, Una, Rice, Polly, Mutch, Rachel, Armstrong, Lisa, Bates, Hayley, Dooks, Emma, Farquhar, Fiona, Hairsine, Brigid, McParland, Chantal, Packham, Sophie, Bi, Rehana, Scholefield, Barney, Ashton, Lydia, George, Linsha, Twiss, Sophie, Wright, David, Chablani, Manish, Kirkby, Amy, Netherton, Kimberley, Davies, Kim, O'Brien, Linda, Omar, Zohra, Perkins, Emma, Lewis, Tracy, Sutherland, Isobel, Burns, Karen, Ben Chandler, Dr, Elliott, Kerry, Mallinson, Janine, Turnbull, Alison, Gondo, Prisca, Hadebe, Bernard, Kayani, Abdul, Masunda, Bridgett, Anderson, Taya, Hawcutt, Dan, O'Malley, Laura, Rad, Laura, Rogers, Naomi, Saunderson, Paula, Allison, Kathryn Sian, Afolabi, Deborah, Whitbread, Jennifer, Jones, Dawn, Dore, Rachael, Halkes, Matthew, Mercer, Pauline, Thornton, Lorraine, Dawson, Joy, Garrioch, Sweyn, Tolson, Melanie, Aldridge, Jonathan, Kapoor, Ritoo, Loader, David, Castle, Karen, Humphreys, Sally, Tampsett, Ruth, Mackintosh, Katherine, Ayers, Amanda, Harrison, Wendy, North, Julie, Allibone, Suzanne, Genetu, Roman, Kasipandian, Vidya, Patel, Amit, Mac, Ainhi, Murphy, Anthony, Mahjoob, Parisa, Nazari, Roonak, Worsley, Lucy, Fagan, Andrew, Bemand, Thomas, Black, Ethel, Dela Rosa, Arnold, Howle, Ryan, Jhanji, Shaman, Baikady, Ravishankar Rao, Tatham, Kate Colette, Thomas, Benjamin, Bell, Dina, Boyle, Rosalind, Douglas, Katie, Glass, Lynn, Lee, Emma, Lennon, Liz, Rattray, Austin, Taylor, Abigail, Hughes, Rachel Anne, Thomas, Helen, Rees, Alun, Duskova, Michaela, Phipps, Janet, Brooks, Suzanne, Edwards, Michelle, Quaid, Sheena, Watson, Ekaterina, Brayne, Adam, Fisher, Emma, Hunt, Jane, Jackson, Peter, Kaye, Duncan, Love, Nicholas, Parkin, Juliet, Tuckey, Victoria, Van Koutrik, Lynne, Carter, Sasha, Andrew, Benedict, Findlay, Louise, Adams, Katie, Service, Jen, Williams, Alison, Cheyne, Claire, Saunderson, Anne, Moultrie, Sam, Odam, Miranda, Hall, Kathryn, Mapfunde, Isheunesu, Willis, Charlotte, Lyon, Alex, Sri-Chandana, Chunda, Scherewode, Joslan, Stephenson, Lorraine, Marsh, Sarah, Hardy, John, Houlden, Henry, Moncur, Eleanor, Tariq, Ambreen, Tucci, Arianna, Hobrok, Maria, Loosley, Ronda, McGuinness, Heather, Tench, Helen, Wolf-Roberts, Rebecca, Irvine, Val, Shelley, Benjamin, Gorman, Claire, Gupta, Abhinav, Timlick, Elizabeth, Brady, Rebecca, Milligan, Barry, Bellini, Arianna, Bryant, Jade, Mayer, Anton, Pickard, Amy, Roe, Nicholas, Sowter, Jason, Howlett, Alex, Fidler, Katy, Tagliavini, Emma, Donnelly, Kevin, Boos, Jannik, van der Made, Caspar I., Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V.C., de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M., Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L., Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, and Ludwig, Kerstin U.
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- 2024
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8. Multi-omic profiling of pathogen-stimulated primary immune cells
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Salz, Renee, Vorsteveld, Emil E., van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Riepe, Tabea V., Hsieh, Tsung-han, Mhlanga, Musa, Netea, Mihai G., Volders, Pieter-Jan, Hoischen, Alexander, and ’t Hoen, Peter A.C.
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- 2024
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9. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
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Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., and Sadikovic, Bekim
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- 2024
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10. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
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Olyha, Sam J., O’Connor, Shannon K., Kribis, Marat, Bucklin, Molly L., Uthaya Kumar, Dinesh Babu, Tyler, Paul M., Alam, Faiad, Jones, Kate M., Sheikha, Hassan, Konnikova, Liza, Lakhani, Saquib A., Montgomery, Ruth R., Catanzaro, Jason, Du, Hongqiang, DiGiacomo, Daniel V., Rothermel, Holly, Moran, Christopher J., Fiedler, Karoline, Warner, Neil, Hoppenreijs, Esther P.A.H., van der Made, Caspar I., Hoischen, Alexander, Olbrich, Peter, Neth, Olaf, Rodríguez-Martínez, Alejandro, Lucena Soto, José Manuel, van Rossum, Annemarie M.C., Dalm, Virgil A.S.H., Muise, Aleixo M., and Lucas, Carrie L.
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- 2024
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11. Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
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Steyaert, Wouter, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han, Hoischen, Alexander, and Gilissen, Christian
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- 2023
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12. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, and Gilissen, Christian
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- 2023
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13. Comprehensive de novo mutation discovery with HiFi long-read sequencing
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Kucuk, Erdi, van der Sanden, Bart P. G. H., O’Gorman, Luke, Kwint, Michael, Derks, Ronny, Wenger, Aaron M., Lambert, Christine, Chakraborty, Shreyasee, Baybayan, Primo, Rowell, William J., Brunner, Han G., Vissers, Lisenka E. L. M., Hoischen, Alexander, and Gilissen, Christian
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- 2023
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14. Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size
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Sikking, Maurits A., Stroeks, Sophie L.V.M., Henkens, Michiel T.H.M., Raafs, Anne G., Cossins, Benjamin, van Deuren, Rosanne C., Steehouwer, Marlies, Riksen, Niels P., van den Wijngaard, Arthur, Brunner, Han G., Hoischen, Alexander, Verdonschot, Job A.J., and Heymans, Stephane R.B.
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- 2024
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15. Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease
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Dregoesc, Mihaela I., Tercan, Helin, Țigu, Adrian B., Bekkering, Siroon, Joosten, Leo AB., Netea, Mihai G., van Deuren, Rosanne C., Hoischen, Alexander, Riksen, Niels P., and Iancu, Adrian C.
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- 2024
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16. A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
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Schuy, Jakob, Sæther, Kristine Bilgrav, Lisfeld, Jasmin, Ek, Marlene, Grochowski, Christopher M., Lun, Ming Yin, Hastie, Alex, Rudolph, Susanne, Fuchs, Sigrid, Neveling, Kornelia, Hempel, Maja, Hoischen, Alexander, Pettersson, Maria, Carvalho, Claudia M.B., Eisfeldt, Jesper, and Lindstrand, Anna
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- 2024
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17. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
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Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, and Hnisz, Denes
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- 2023
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18. Circulating interleukin-37 declines with aging in healthy humans: relations to healthspan indicators and IL37 gene SNPs
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Brunt, Vienna E., Ikoba, Akpevweoghene P., Ziemba, Brian P., Ballak, Dov B., Hoischen, Alexander, Dinarello, Charles A., Ehringer, Marissa A., and Seals, Douglas R.
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- 2023
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19. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
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Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, and Distelmaier, Felix
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- 2023
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20. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
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- 2023
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21. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
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de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Ferenc Kovács, Árpád, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R., Vissers, Lisenka E.L.M., van den Born, L. Ingeborgh, Gilissen, Christian, Cremers, Frans P.M., Hoischen, Alexander, Neveling, Kornelia, and Roosing, Susanne
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- 2023
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22. Precision oncology using organoids of a secretory carcinoma of the salivary gland treated with TRK-inhibitors
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Lassche, Gerben, van Engen - van Grunsven, Adriana C.H., van Hooij, Onno, Aalders, Tilly W., AM Weijers, Jetty, Cocco, Emiliano, Drilon, Alexander, Hoischen, Alexander, Neveling, Kornelia, Schalken, Jack A., Verhaegh, Gerald W., and van Herpen, Carla M.L.
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- 2023
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23. Human variation in population-wide gene expression data predicts gene perturbation phenotype
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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.
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- 2022
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24. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
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Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., and Kremer, Hannie
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- 2022
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25. A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
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Højland, Allan Thomas, Tavernier, Lisse J. M., Schrauwen, Isabelle, Sommen, Manou, Topsakal, Vedat, Schatteman, Isabelle, Dhooge, Ingeborg, Huber, Alex, Zanetti, Diego, Kunst, Henricus P. M., Hoischen, Alexander, Petersen, Michael B., Van Camp, Guy, and Fransen, Erik
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- 2022
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26. Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19
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van der Made, Caspar I., Netea, Mihai G., van der Veerdonk, Frank L., and Hoischen, Alexander
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- 2022
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27. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
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Capella, Gabriel, Evans, Gareth, Rump, Andreas, Schröck, Evelin, Hoischen, Alexander, Geverink, Nicoline, Tischkowitz, Marc, Matalonga, Leslie, Laurie, Steven, Gilissen, Christian, Steyaert, Wouter, Demidov, German, Sommer, Anna K., te Paske, Iris B.A.W., Garcia-Pelaez, José, Laner, Andreas, Holinski-Feder, Elke, Steinke-Lange, Verena, Peters, Sophia, Valle, Laura, Spier, Isabel, Huntsman, David, Oliveira, Carla, de Voer, Richarda M., Hoogerbrugge, Nicoline, and Aretz, Stefan
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- 2022
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28. A Case–Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease.
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Van Dijck, Evelien, Diels, Sara, Fransen, Erik, Cremers, Tycho Canter, Verrijken, An, Dirinck, Eveline, Hoischen, Alexander, Vandeweyer, Geert, Vanden Berghe, Wim, Van Gaal, Luc, Francque, Sven, and Van Hul, Wim
- Subjects
HEPATIC fibrosis ,METABOLIC disorders ,MOLECULAR probes ,GENE families ,LIVER diseases - Abstract
The paraoxonase (PON) gene family (including PON1, PON2, and PON3), is known for its anti-oxidative and anti-inflammatory properties, protecting against metabolic diseases such as obesity and metabolic dysfunction-associated steatotic liver disease (MASLD). In this study, the influence of common and rare PON variants on both conditions was investigated. A total of 507 healthy weight individuals and 744 patients with obesity including 433 with histological liver assessment, were sequenced with single-molecule molecular inversion probes (smMIPs), allowing the identification of genetic contributions to obesity and MASLD-related liver features. Polymorphisms rs705379 and rs854552 in the PON1 gene displayed significant association with MASLD stage and fibrosis, respectively. Additionally, rare PON1 variants were strongly associated with obesity. This study thereby reinforces the genetic foundation of PON1 in obesity and various MASLD-related liver features, by extending previous findings from common variants to include rare variants. Additionally, rare and very rare variants in PON2 were discovered to be associated with MASLD-related hepatic fibrosis. Notably, we are the first to report an association between naturally occurring rare PON2 variants and MASLD-related liver fibrosis. Considering the critical role of liver fibrosis in MASLD outcome, PON2 emerges as a possible candidate for future research endeavors including exploration of biomarker potential. [ABSTRACT FROM AUTHOR]
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- 2024
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29. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
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Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Jr., Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina, Yaldiz, Burcu, Laurie, Steve, de Reuver, Rick, Kwint, Michael, Pfundt, Rolph, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., and Vissers, Lisenka E.L.M.
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- 2022
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30. Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes
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Fransen, Erik, Valgaeren, Hanne, Janssens, Katleen, Sommen, Manou, De Ridder, Raphael, Vandeweyer, Geert, Bisceglia, Luigi, Soler, Vincent, Hoischen, Alexander, Mortier, Geert, Malecaze, François, Koppen, Carina, and Van Camp, Guy
- Published
- 2021
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31. Optical genome mapping enables accurate repeat expansion testing
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van der Sanden, Bart, primary, Neveling, Kornelia, additional, Shukor, Syukri, additional, Gallagher, Michael D, additional, Lee, Joyce, additional, Burke, Stephanie L, additional, Pennings, Maartje, additional, van Beek, Ronald, additional, Oorsprong, Michiel, additional, Kater-Baats, Ellen, additional, Kamping, Eveline, additional, Tieleman, Alide, additional, Voermans, Nicol, additional, Scheffer, Ingrid E, additional, Gecz, Jozef, additional, Corbett, Mark, additional, Vissers, Lisenka ELM, additional, Pang, Andy WC, additional, Hastie, Alex, additional, Kamsteeg, Erik-Jan, additional, and Hoischen, Alexander, additional
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- 2024
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32. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
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van der Made, Caspar I., primary, Kersten, Simone, additional, Chorin, Odelia, additional, Engelhardt, Karin R., additional, Ramakrishnan, Gayatri, additional, Griffin, Helen, additional, Schim van der Loeff, Ina, additional, Venselaar, Hanka, additional, Rothschild, Annick Raas, additional, Segev, Meirav, additional, Schuurs-Hoeijmakers, Janneke H.M., additional, Mantere, Tuomo, additional, Essers, Rick, additional, Esteki, Masoud Zamani, additional, Avital, Amir L., additional, Loo, Peh Sun, additional, Simons, Annet, additional, Pfundt, Rolph, additional, Warris, Adilia, additional, Seyger, Marieke M., additional, van de Veerdonk, Frank L., additional, Netea, Mihai G., additional, Slatter, Mary A., additional, Flood, Terry, additional, Gennery, Andrew R., additional, Simon, Amos J., additional, Lev, Atar, additional, Frizinsky, Shirley, additional, Barel, Ortal, additional, van der Burg, Mirjam, additional, Somech, Raz, additional, Hambleton, Sophie, additional, Henriet, Stefanie S.V., additional, and Hoischen, Alexander, additional
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- 2024
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33. Long-read technologies identify a hidden inverted duplication in a family with choroideremia
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Fadaie, Zeinab, Neveling, Kornelia, Mantere, Tuomo, Derks, Ronny, Haer-Wigman, Lonneke, den Ouden, Amber, Kwint, Michael, O’Gorman, Luke, Valkenburg, Dyon, Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Nelen, Marcel, Cremers, Frans P.M., Hoischen, Alexander, and Roosing, Susanne
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- 2021
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34. Stratified analyses refine association between TLR7 rare variants and severe COVID-19
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Boos, J, van der Made, C, Ramakrishnan, G, Coughlan, E, Asselta, R, Löscher, B, Valenti, L, de Cid, R, Bujanda, L, Julià, A, Pairo-Castineira, E, Baillie, J, May, S, Zametica, B, Heggemann, J, Albillos, A, Banales, J, Barretina, J, Blay, N, Bonfanti, P, Buti, M, Fernandez, J, Marsal, S, Prati, D, Ronzoni, L, Sacchi, N, Schultze, J, Riess, O, Franke, A, Rawlik, K, Ellinghaus, D, Hoischen, A, Schmidt, A, Ludwig, K, Boos, Jannik, van der Made, Caspar I, Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V C, de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, Baillie, J Kenneth, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M, Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L, Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, Ludwig, Kerstin U, Boos, J, van der Made, C, Ramakrishnan, G, Coughlan, E, Asselta, R, Löscher, B, Valenti, L, de Cid, R, Bujanda, L, Julià, A, Pairo-Castineira, E, Baillie, J, May, S, Zametica, B, Heggemann, J, Albillos, A, Banales, J, Barretina, J, Blay, N, Bonfanti, P, Buti, M, Fernandez, J, Marsal, S, Prati, D, Ronzoni, L, Sacchi, N, Schultze, J, Riess, O, Franke, A, Rawlik, K, Ellinghaus, D, Hoischen, A, Schmidt, A, Ludwig, K, Boos, Jannik, van der Made, Caspar I, Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V C, de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, Baillie, J Kenneth, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M, Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L, Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, and Ludwig, Kerstin U
- Abstract
Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (<60 years) cases with no reported clinical risk factors (n = 378), compared to 0.24% of controls (odds ratio [OR] = 12.3, p = 1.27 × 10−10). Incorporation of the results of either functional assays or protein modeling led to a pronounced increase in effect size (ORmax = 46.5, p = 1.74 × 10−15). Association signals for the X-chromosomal gene TLR7 were also detected in the female-only subgroup, suggesting the existence of additional mechanisms beyond X-linked recessive inheritance in males. Additionally, supporting evidence was generated for a contribution to severe COVID-19 of the previously implicated genes IFNAR2, IFIH1, and TBK1. Our results refine the genetic contribution of rare TLR7 variants to severe COVID-19 and strengthen evidence for the etiological relevance of genes in the interferon signaling pathway.
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- 2024
35. Long-read trio sequencing of individuals with unsolved intellectual disability
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Pauper, Marc, Kucuk, Erdi, Wenger, Aaron M., Chakraborty, Shreyasee, Baybayan, Primo, Kwint, Michael, van der Sanden, Bart, Nelen, Marcel R., Derks, Ronny, Brunner, Han G., Hoischen, Alexander, Vissers, Lisenka E. L. M., and Gilissen, Christian
- Published
- 2021
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36. Optical Genome Mapping for Applications in Repeat Expansion Disorders.
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van der Sanden, Bart, Neveling, Kornelia, Pang, Andy Wing Chun, Shukor, Syukri, Gallagher, Michael D., Burke, Stephanie L., Kamsteeg, Erik‐Jan, Hastie, Alex, and Hoischen, Alexander
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- 2024
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37. A framework for the clinical implementation of optical genome mapping in hematologic malignancies
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Levy, Brynn, primary, Kanagal‐Shamanna, Rashmi, additional, Sahajpal, Nikhil S., additional, Neveling, Kornelia, additional, Rack, Katrina, additional, Dewaele, Barbara, additional, Olde Weghuis, Daniel, additional, Stevens‐Kroef, Marian, additional, Puiggros, Anna, additional, Mallo, Mar, additional, Clifford, Benjamin, additional, Mantere, Tuomo, additional, Hoischen, Alexander, additional, Espinet, Blanca, additional, Kolhe, Ravindra, additional, Solé, Francesc, additional, Raca, Gordana, additional, and Smith, Adam C., additional
- Published
- 2024
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38. National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
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Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., van der Veken, Lars T., Ernst, Robert F., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Hout, Annemieke H., Abbott, Kristin M., Hoischen, Alexander, Pieterse, Marc, Kuijpers, Taco W., van Montfrans, Joris M., and van Gijn, Mariëlle E.
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- 2021
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39. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
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White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Genomics, Baylor-Hopkins Center for Mendelian, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, and Carvalho, Claudia MB
- Subjects
Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Rare Diseases ,Congenital Structural Anomalies ,Clinical Research ,Pediatric ,2.1 Biological and endogenous factors ,Aetiology ,Congenital ,Adaptor Proteins ,Signal Transducing ,Alleles ,Base Sequence ,Codon ,Nonsense ,Craniofacial Abnormalities ,Dishevelled Proteins ,Dwarfism ,Exons ,Female ,Frameshift Mutation ,Genetic Variation ,Humans ,Limb Deformities ,Congenital ,Male ,Molecular Sequence Data ,Phosphoproteins ,Proto-Oncogene Proteins ,Receptor Tyrosine Kinase-like Orphan Receptors ,Sequence Analysis ,DNA ,Sequence Deletion ,Urogenital Abnormalities ,Wnt Proteins ,Wnt-5a Protein ,Baylor-Hopkins Center for Mendelian Genomics ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.
- Published
- 2016
40. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
- Author
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White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Baylor-Hopkins Center for Mendelian Genomics, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, and Carvalho, Claudia MB
- Subjects
Baylor-Hopkins Center for Mendelian Genomics ,Humans ,Dwarfism ,Craniofacial Abnormalities ,Limb Deformities ,Congenital ,Urogenital Abnormalities ,Adaptor Proteins ,Signal Transducing ,Proto-Oncogene Proteins ,Phosphoproteins ,Codon ,Nonsense ,Sequence Analysis ,DNA ,Sequence Deletion ,Base Sequence ,Frameshift Mutation ,Alleles ,Exons ,Molecular Sequence Data ,Female ,Male ,Wnt Proteins ,Genetic Variation ,Receptor Tyrosine Kinase-like Orphan Receptors ,Wnt-5a Protein ,Dishevelled Proteins ,Rare Diseases ,Congenital Structural Anomalies ,Clinical Research ,Pediatric ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Congenital ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.
- Published
- 2016
41. Transcriptional and functional insights into the host immune response against the emerging fungal pathogen Candida auris
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Bruno, Mariolina, Kersten, Simone, Bain, Judith M., Jaeger, Martin, Rosati, Diletta, Kruppa, Michael D., Lowman, Douglas W., Rice, Peter J., Graves, Bridget, Ma, Zuchao, Jiao, Yue Ning, Chowdhary, Anuradha, Renieris, George, van de Veerdonk, Frank L., Kullberg, Bart-Jan, Giamarellos-Bourboulis, Evangelos J., Hoischen, Alexander, Gow, Neil A. R., Brown, Alistair J. P., Meis, Jacques F., Williams, David L., and Netea, Mihai G.
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- 2020
- Full Text
- View/download PDF
42. Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
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van der Werf, Ilse M., Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, R. Frank, and Vandeweyer, Geert
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- 2020
- Full Text
- View/download PDF
43. Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
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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
- Published
- 2021
- Full Text
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44. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
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Kargapolova, Yulia, Rehimi, Rizwan, Kayserili, Hülya, Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan, Hoischen, Alexander, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa, Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro, Kurian, Leo, Wollnik, Bernd, Bouazoune, Karim, and Papantonis, Argyris
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- 2021
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45. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, and Cremers, Frans P. M.
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- 2020
- Full Text
- View/download PDF
46. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
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Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, and Kleefstra, Tjitske
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Human Genome ,Clinical Research ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Amino Acid Substitution ,Animals ,Base Sequence ,DEAD-box RNA Helicases ,Embryo ,Nonmammalian ,Exome ,Female ,Gene Dosage ,Humans ,Intellectual Disability ,Male ,Molecular Sequence Data ,Mutation ,Missense ,Phenotype ,Sequence Analysis ,DNA ,Sex Characteristics ,Wnt Signaling Pathway ,Zebrafish ,DDD Study ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Based on our findings, mutations in DDX3X are one of the more common causes of ID, accounting for 1%-3% of unexplained ID in females. Although no de novo DDX3X mutations were identified in males, we present three families with segregating missense mutations in DDX3X, suggestive of an X-linked recessive inheritance pattern. In these families, all males with the DDX3X variant had ID, whereas carrier females were unaffected. To explore the pathogenic mechanisms accounting for the differences in disease transmission and phenotype between affected females and affected males with DDX3X missense variants, we used canonical Wnt defects in zebrafish as a surrogate measure of DDX3X function in vivo. We demonstrate a consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway, and we further show a differential effect by gender. The differential activity possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDX3X mutations.
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- 2015
47. Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
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Villanueva, Pía, Nudel, Ron, Hoischen, Alexander, Fernández, María Angélica, Simpson, Nuala H, Gilissen, Christian, Reader, Rose H, Jara, Lillian, Echeverry, María Magdalena, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, O'Hare, Anne, Bolton, Patrick F, Hennessy, Elizabeth R, SLI Consortium, Palomino, Hernán, Carvajal-Carmona, Luis, Veltman, Joris A, Cazier, Jean-Baptiste, De Barbieri, Zulema, Fisher, Simon E, and Newbury, Dianne F
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SLI Consortium ,Humans ,Apraxias ,Genetic Predisposition to Disease ,Carrier Proteins ,Membrane Proteins ,Genetics ,Population ,Child ,Child ,Preschool ,Female ,Male ,Genetic Association Studies ,High-Throughput Nucleotide Sequencing ,Exome ,Preschool ,Genetics ,Population ,Developmental Biology - Abstract
Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 × 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model.
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- 2015
48. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
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Nicolas, Gaël, Acuña-Hidalgo, Rocío, Keogh, Michael J., Quenez, Olivier, Steehouwer, Marloes, Lelieveld, Stefan, Rousseau, Stéphane, Richard, Anne-Claire, Oud, Manon S., Marguet, Florent, Laquerrière, Annie, Morris, Chris M., Attems, Johannes, Smith, Colin, Ansorge, Olaf, Al Sarraj, Safa, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Wallon, David, Gilissen, Christian, Chinnery, Patrick F., Veltman, Joris A., and Hoischen, Alexander
- Published
- 2018
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49. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
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Abdel-Salam, Ghada M. H., primary, Hellmuth, Susanne, additional, Gradhand, Elise, additional, Käseberg, Stephan, additional, Winter, Jennifer, additional, Pabst, Ann-Sophie, additional, Eid, Maha M., additional, Thiele, Holger, additional, Nürnberg, Peter, additional, Budde, Birgit S., additional, Toliat, Mohammad Reza, additional, Brecht, Ines B., additional, Schroeder, Christopher, additional, Gschwind, Axel, additional, Ossowski, Stephan, additional, Häuser, Friederike, additional, Rossmann, Heidi, additional, Abdel-Hamid, Mohamed S., additional, Hegazy, Ibrahim, additional, Mohamed, Ahmed G., additional, Schneider, Dominik T., additional, Bertoli-Avella, Aida, additional, Bauer, Peter, additional, Pearring, Jillian N., additional, Pfundt, Rolph, additional, Hoischen, Alexander, additional, Gilissen, Christian, additional, Strand, Dennis, additional, Zechner, Ulrich, additional, Tashkandi, Soha A., additional, Faqeih, Eissa A., additional, Stemmann, Olaf, additional, Strand, Susanne, additional, and Bolz, Hanno J., additional
- Published
- 2023
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50. Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories
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Smith, Adam C., primary, Hoischen, Alexander, additional, and Raca, Gordana, additional
- Published
- 2023
- Full Text
- View/download PDF
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