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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony Share Save
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance Brazane, Mira; Dimitrova, Dilyana G.; Pigeon, Julien; Paolantoni, Chiara; Ye, Tao; Marchand, Virginie; Da Silva, Bruno; Schaefer, Elise; Angelova, Margarita T.; Stark, Zornitza; Delatycki, Martin; Dudding-Byth, Tracy; Gecz, Jozef; Placais, Pierre-Yves; Teysset, Laure; Preat, Thomas; Piton, Amelie; Hassan, Bassem A.; Roignant, Jean-Yves; Motorin, Yuri; Carre, Clement Share Save
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. Share Save
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna Share Save
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability Field, Michael J.; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A.; Ewans, Lisa J.; Ivancevic, Atma M.; Dudding-Byth, Tracy; Carroll, Renee; Kroes, Thessa; Gardner, Alison E.; Sullivan, Patricia; Ha, Thuong T.; Schwartz, Charles E.; Cowley, Mark J.; Dinger, Marcel E.; Palmer, Elizabeth E.; Christie, Louise; Shaw, Marie; Roscioli, Tony; Gecz, Jozef; Corbett, Mark A. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M.; Christie, Louise; Corbett, Mark A.; Juusola, Jane; Friend, Kathryn L.; Kirmse, Brian M.; Gecz, Jozef; Field, Michael; Orlowski, John Share Save
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients Ngoc Minh Phuong Nguyen; Khawajkie, Yassemine; Mechtouf, Nawel; Rezaei, Maryam; Breguet, Magali; Kurvinen, Elvira; Jagadeesh, Sujatha; Solmaz, Asli Ece; Aguinaga, Monica; Hemida, Reda; Harma, Mehmet Ibrahim; Rittore, Cecile; Rahimi, Kurosh; Arseneau, Jocelyne; Hovanes, Karine; Clisham, Ronald; Lenzi, Tiffanee; Scurry, Bonnie; Addor, Marie-Claude; Bagga, Rashmi; Nendaz, Genevieve Girardet; Finci, Vildana; Poke, Gemma; Grimes, Leslie; Gregersen, Nerine; York, Kayla; Bolze, Pierre-Adrien; Patel, Chirag; Mozdarani, Hossein; Puechberty, Jacques; Scotchie, Jessica; Fardaei, Majid; Harma, Muge; Gardner, R. J. McKinlay; Sahoo, Trilochan; Dudding-Byth, Tracy; Srinivasan, Radhika; Sauthier, Philippe; Slim, Rima Share Save
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability Dudding-Byth, Tracy; Baxter, Anne; Holliday, Elizabeth G.; Hackett, Anna; O'Donnell, Sheridan; White, Susan M.; Attia, John; Brunner, Han; de Vries, Bert; Koolen, David; Kleefstra, Tjitske; Ratwatte, Seshika; Riveros, Carlos; Brain, Steve; Lovell, Brian C. Share Save
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations Palmer, Elizabeth E.; Kumar, Raman; Gordon, Christopher T.; Shaw, Marie; Hubert, Laurence; Carroll, Renee; Rio, Marlene; Murray, Lucinda; Leffler, Melanie; Dudding-Byth, Tracy; Oufadem, Myriam; Lalani, Seema R.; Lewis, Andrea M.; Xia, Fan; Tam, Allison; Webster, Richard; Brammah, Susan; Filippini, Francesca; Pollard, John; Spies, Judy; Minoche, Andre E.; Cowley, Mark J.; Risen, Sarah; Powell-Hamilton, Nina N.; Tusi, Jessica E.; Immken, LaDonna; Nagakura, Honey; Bole-Feysot, Christine; Nitschke, Patrick; Garrigue, Alexandrine; de Saint Basile, Genevieve; Kivuva, Emma; Scott, Richard H.; Rendon, Augusto; Munnich, Arnold; Newman, William; Kerr, Bronwyn; Besmond, Claude; Rosenfeld, Jill A.; Amiel, Jeanne; Field, Michael; Gecz, Jozef Share Save
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Zambonin, Jessica L.; Bellomo, Allison; Ben-Pazi, Hilla; Everman, David B.; Frazer, Lee M.; Geraghty, Michael T.; Harper, Amy D.; Jones, Julie R.; Kamien, Benjamin; Kernohan, Kristin; Koenig, Mary Kay; Lines, Matthew; Palmer, Elizabeth Emma; Richardson, Randal; Segel, Reeval; Tarnopolsky, Mark; Vanstone, Jason R.; Gibbons, Melissa; Collins, Abigail; Fogel, Brent L.; Dudding-Byth, Tracy; Boycott, Kym M. Share Save
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families McInerney-Leo, Aideen M.; Harris, Jessica E.; Gattas, Michael; Peach, Elizabeth E.; Sinnott, Stephen; Dudding-Byth, Tracy; Rajagopalan, Sulekha; Barnett, Christopher P.; Anderson, Lisa K.; Wheeler, Lawrie; Brown, Matthew A.; Leo, Paul J.; Wicking, Carol; Duncan, Emma L. Share Save
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Petrovski, Slave; Kury, Sebastien; Myers, Candace T.; Anyane-Yeboa, Kwame; Cogne, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L.; Wallace, Geoffrey; Rosen, Aaron B. I.; Schelley, Susan; Enns, Gregory M.; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xenia; Schmitt, Sebastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L.; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M.; Bezieau, Stephane; Wierenga, Klaas; Bernstein, Jonathan A.; Scheffer, Ingrid E.; Rosenfeld, Jill A.; Mefford, Heather C.; Isidor, Bertrand; Goldstein, David B. Share Save
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A Corbett, Mark A.; Dudding-Byth, Tracy; Crock, Patricia A.; Botta, Elena; Christie, Louise M.; Nardo, Tiziana; Caligiuri, Giuseppina; Hobson, Lynne; Boyle, Jackie; Mansour, Albert; Friend, Kathryn L.; Crawford, Jo; Jackson, Graeme; Vandeleur, Lucianne; Hackett, Anna; Tarpey, Patrick; Stratton, Michael R.; Turner, Gillian; Gecz, Jozef; Field, Michael Share Save
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