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Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss Aboagye, Elvis Twumasi; Adadey, Samuel Mawuli; Rios, Leonardo Alves de Souza; Esoh, Kevin K.; Wonkam-Tingang, Edmond; Xhakaza, Lettilia; De Kock, Carmen; Schrauwen, Isabelle; Amenga-Etego, Lucas; Lang, Dirk; Awandare, Gordon A.; Leal, Suzanne M.; Mowla, Shaheen; Wonkam, Ambroise Share Save
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G. Share Save
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali Yalcouye, Abdoulaye; Schrauwen, Isabelle; Traore, Oumou; Bamba, Salia; Aboagye, Elvis Twumasi; Acharya, Anushree; Bharadwaj, Thashi; Latanich, Rachel; Esoh, Kevin; Fortes-Lima, Cesar A.; de Kock, Carmen; Jonas, Mario; Maiga, Alassane dit Baneye; Cisse, Cheick A. K.; Sangare, Moussa A.; Guinto, Cheick O.; Landoure, Guida; Leal, Suzanne M.; Wonkam, Ambroise Share Save
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders Schrauwen, Isabelle; Rajendran, Yasmin; Acharya, Anushree; Ohman, Susanna; Arvio, Maria; Paetau, Ritva; Siren, Auli; Avela, Kristiina; Granvik, Johanna; Leal, Suzanne M.; Maatta, Tuomo; Kokkonen, Hannaleena; Jarvela, Irma Share Save
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A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome Malik, Madiha Amin; Saqib, Muhammad Arif Nadeem; Mientjes, Edwin; Acharya, Anushree; Alam, Muhammad Rizwan; Wallaard, Ilse; Schrauwen, Isabelle; Bamshad, Michael J.; Santos-Cortez, Regie Lyn P.; Elgersma, Ype; Leal, Suzanne M.; Ansar, Muhammad Share Save
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly Bilal, Muhammad; Khan, Hammal; Khan, Muhammad Javed; Haack, Tobias B.; Buchert, Rebecca; Liaqat, Khurram; Ullah, Kifayat; Ahmed, Sohail; Bharadwaj, Thashi; Acharya, Anushree; Peralta, Susana; Najumuddin; Ali, Hamid; Hasni, Muhammad Sharif; Schrauwen, Isabelle; Ullah, Asmat; Ahmad, Wasim; Leal, Suzanne M. Share Save
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders Frankel, Eric; Podder, Avijit; Sharifi, Megan; Pillai, Roshan; Belnap, Newell; Ramsey, Keri; Dodson, Julius; Venugopal, Pooja; Brzezinski, Molly; Llaci, Lorida; Gerald, Brittany; Mills, Gabrielle; Sanchez-Castillo, Meredith; Balak, Chris D.; Szelinger, Szabolcs; Jepsen, Wayne M.; Siniard, Ashley L.; Richholt, Ryan; Naymik, Marcus; Schrauwen, Isabelle; Craig, David W.; Piras, Ignazio S.; Huentelman, Matthew J.; Schork, Nicholas J.; Narayanan, Vinodh; Rangasamy, Sampathkumar Share Save
Rare-variant association analysis reveals known and new age-related hearing loss genes Cornejo-Sanchez, Diana M.; Li, Guangyou; Fabiha, Tabassum; Wang, Ran; Acharya, Anushree; Everard, Jenna L.; Kadlubowska, Magda K.; Huang, Yin; Schrauwen, Isabelle; Wang, Gao T.; DeWan, Andrew T.; Leal, Suzanne M. Share Save
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Syntaxin 4 is essential for hearing in human and zebrafish Schrauwen, Isabelle; Ghaffar, Amama; Bharadwaj, Thashi; Shah, Khadim; Rehman, Sakina; Acharya, Anushree; Liaqat, Khurram; Lin, Nicole S.; Everard, Jenna L.; Khan, Anwar; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Saima; Leal, Suzanne M. Share Save
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Sanchez, Diana M. Cornejo; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L.; Kadlubowska, Magda K.; Nouel-Saied, Liz M.; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K.; Awandare, Gordon A.; Leal, Suzanne M. Share Save
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