Not logged in A conformable phased-array ultrasound patch for bladder volume monitoring (vol 7, pg 77, 2024) Zhang, Lin; Marcus, Colin; Lin, Dabin; Mejorado, David; Schoen, Scott Joseph; Pierce, Theodore T.; Kumar, Viksit; Fernandez, Sara V.; Hunt, David; Li, Qian; Shuvo, Ikra Iftekhar; Sadat, David; Du, Wenya; Edenbaum, Hannah; Jin, Li; Liu, Weiguo; Eldar, Yonina C.; Li, Fei; Chandrakasan, Anantha P.; Samir, Anthony E. Share Save
A conformable phased-array ultrasound patch for bladder volume monitoring Zhang, Lin; Marcus, Colin; Lin, Dabin; Mejorado, David; Schoen Jr, Scott Joseph; Pierce, Theodore T.; Kumar, Viksit; Fernandez, Sara V.; Hunt, David; Li, Qian; Shuvo, Ikra Iftekhar; Sadat, David; Du, Wenya; Edenbaum, Hannah; Jin, Li; Liu, Weiguo; Eldar, Yonina C.; Li, Fei; Chandrakasan, Anantha P.; Samir, Anthony E.; Dagdeviren, Canan Share Save
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo Bonnet, Maxime; Roche, Fiona; Fagotto-Kaufmann, Christine; Gazdagh, Gabriella; Truong, Iona; Comunale, Franck; Barbosa, Sonia; Bonhomme, Marion; Nafati, Nicolas; Hunt, David; Rodriguez, Monserrat Pons; Chaudhry, Ayeshah; Shears, Deborah; Madruga, Marcos; Vansenne, Fleur; Curie, Aurore; Kajava, Andrey V. V.; Baralle, Diana; Fassier, Coralie; Debant, Anne; Schmidt, Susanne Share Save
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A.; Nizon, Mathilde; Cogne, Benjamin; Abu Jamra, Rami; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonniere, Roger; Magry, Virginie; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Melegh, Bela; Szabo, Andras; Sumegi, Katalin; Cossee, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry Share Save
First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M.; Montani, David; Eyries, Melanie; Humbert, Marc; Welch, Carrie L.; Chung, Wendy K.; Berger, Rolf M. F.; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subias, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara M. A.; Kerstjens-Frederikse, Wilhelmina; Kiely, David G.; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J.; Schotte, Gwen; Tenorio-Castano, Jair; Thompson, A. A. Roger; Wharton, John; Wort, Stephen J.; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M.; Martin, Jennifer M.; Li, Wei; Swift, Andrew J.; Upton, Paul D.; Morrell, Nicholas W.; Graf, Stefan; Valverde, Diana 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
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis Wai, Htoo A.; Constable, Matthew; Drewes, Cosima; Davies, Ian C.; Svobodova, Eliska; Dempsey, Esther; Saggar, Anand; Homfray, Tessa; Mansour, Sahar; Douzgou, Sofia; Barr, Kate; Scott, Stephanie; Hunt, David; Douglas, Andrew G. L.; Baralle, Diana Share Save
PURA-Related Developmental and Epileptic Encephalopathy Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido Share Save
De novo missense variants in FBXO11 alter its protein expression and subcellular localization Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane Share Save
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia Shoemark, Amelia; Rubbo, Bruna; Legendre, Marie; Fassad, Mahmoud R.; Haarman, Eric G.; Best, Sunayna; Bon, Irma C. M.; Brandsma, Joost; Burgel, Pierre-Regis; Carlsson, Gunnar; Carr, Siobhan B.; Carroll, Mary; Edwards, Matt; Escudier, Estelle; Honore, Isabelle; Hunt, David; Jouvion, Gregory; Loebinger, Michel R.; Maitre, Bernard; Morris-Rosendahl, Deborah; Papon, Jean-Francois; Parsons, Camille M.; Patel, Mitali P.; Thomas, N. Simon; Thouvenin, Guillaume; Walker, Woolf T.; Wilson, Robert; Hogg, Claire; Mitchison, Hannah M.; Lucas, Jane S. Share Save
Primary ciliary dyskinesia and non-CF bronchiectasis Project Wheway, Gabrielle; Legebeke, Jelmer; Carr, Siobhan B.; Carroll, Mary; Chetcuti, Philip; Hirst, Robert; Holloway, John; Hunt, David; Kenia, Priti; Loebinger, Michael; Lord, Jenny; Morris-Rosendal, Deborah; Moya, Eduardo; Narayanan, Manjith; O'Callaghan, Christopher; Peckham, Daniel; Robson, Evie; Shoemark, Amelia; Thomas, Simon; Walker, Woolf; Baralle, Diana; Mitchison, Hannah M.; Hogg, Claire; Lucas, Jane Share Save
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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M. 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
Mapping the transcriptional diversity of genetically and anatomically defined cell populations in the mouse brain Sugino, Ken; Clark, Erin; Schulmann, Anton; Shima, Yasuyuki; Wang, Lihua; Hunt, David L.; Hooks, Bryan M.; Trankner, Dimitri; Chandrashekar, Jayaram; Picard, Serge; Lemire, Andrew L.; Spruston, Nelson; Hantman, Adam W.; Nelson, Sacha B. Share Save
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, Nicodeme; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak Share Save
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