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by Hengel, Holger and Bosso-Lefèvre, Célia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A A P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Andrews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 01/2020, Volume 11, Issue 1, pp. 595 - 16
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an... 
Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Zebrafish | Glucose | Dehydrogenase | Delay | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures
Journal Article
by Kruszka, Paul and Porras, Antonio R and de Souza, Deise Helena and Moresco, Angélica and Huckstadt, Victoria and Gill, Ashleigh D and Boyle, Alec P and Hu, Tommy and Addissie, Yonit A and Mok, Gary T. K and Tekendo‐Ngongang, Cedrik and Fieggen, Karen and Prijoles, Eloise J and Tanpaiboon, Pranoot and Honey, Engela and Luk, Ho‐Ming and Lo, Ivan F. M and Thong, Meow‐Keong and Muthukumarasamy, Premala and Jones, Kelly L and Belhassan, Khadija and Ouldim, Karim and El Bouchikhi, Ihssane and Bouguenouch, Laila and Shukla, Anju and Girisha, Katta M and Sirisena, Nirmala D and Dissanayake, Vajira H. W and Paththinige, C. Sampath and Mishra, Rupesh and Kisling, Monisha S and Ferreira, Carlos R and de Herreros, María Beatriz and Lee, Ni‐Chung and Jamuar, Saumya S and Lai, Angeline and Tan, Ee Shien and Ying Lim, Jiin and Wen‐Min, Cham Breana and Gupta, Neerja and Lotz‐Esquivel, Stephanie and Badilla‐Porras, Ramsés and Hussen, Dalia Farouk and El Ruby, Mona O and Ashaat, Engy A and Patil, Siddaramappa J and Dowsett, Leah and Eaton, Alison and Innes, A. Micheil and Shotelersuk, Vorasuk and Badoe, Ëben and Wonkam, Ambroise and Obregon, María Gabriela and Chung, Brian H. Y and Trubnykova, Milana and La Serna, Jorge and Gallardo Jugo, Bertha Elena and Chávez Pastor, Miguel and Abarca Barriga, Hugo Hernán and Megarbane, Andre and Kozel, Beth A and van Haelst, Mieke M and Stevenson, Roger E and Summar, Marshall and Adeyemo, A. Adebowale and Morris, Colleen A and Moretti‐Ferreira, Danilo and Linguraru, Marius George and Muenke, Maximilian
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1128 - 1136
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 373 - 381
Journal Article
by DiStefano, Marina T and Hemphill, Sarah E and Oza, Andrea M and Siegert, Rebecca K and Grant, Andrew R and Hughes, Madeline Y and Cushman, Brandon J and Azaiez, Hela and Booth, Kevin T and Chapin, Alex and Duzkale, Hatice and Matsunaga, Tatsuo and Shen, Jun and Zhang, Wenying and Kenna, Margaret and Schimmenti, Lisa A and Tekin, Mustafa and Rehm, Heidi L and Tayoun, Ahmad N. Abou and Amr, Sami S and Abdelhak, Sonia and Alexander, John and Avraham, Karen and Bhatia, Neha and Bai, Donglin and Boczek, Nicole and Brownstein, Zippora and Burt, Rachel and Bylstra, Yasmin and del Castillo, Ignacio and Choi, Byung Yoon and Downie, Lilian and Friedman, Thomas and Giersch, Anne and Goh, Jasmine and Greinwald, John and Griffith, Andrew J and Hernandez, Amy and Holt, Jeffrey and Hosoya, Makoto and Ying, Lim Jiin and Jain, Kanika and Kim, Un-Kyung and Kremer, Hannie and Krantz, Ian and Leal, Suzanne and Lewis, Morag and Liu, Xue Zhong and Low, Wendy and Lu, Yu and Luo, Minjie and Masmoudi, Saber and Ming, Tan Yuen and Moreno-Pelayo, Miguel Angel and Morín, Matías and Morton, Cynthia and Murray, Jaclyn and Mutai, Hideki and Nara, Kiyomitsu and Pandya, Arti and Pei-Rong, Sylvia Kam and Smith, Richard J. H and Jamuar, Saumya Shekhar and Suer, Funda Elif and Usami, Shin-Ichi and Van Camp, Guy and Yamazawa, Kazuki and Yuan, Hui-Jun and Black-Zeigelbein, Elizabeth and Zhang, Keijan and ClinGen Hearing Loss Clinical Doma and ClinGen Hearing Loss Clinical Domain Working Group and on behalf of the ClinGen Hearing Loss Clinical Domain Working Group
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2239 - 2247
Purpose: Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental... 
genetic diagnosis | hearing loss | deafness | ClinGen | gene curation | DIAGNOSIS | GUIDELINES | GENETICS & HEREDITY | DEAFNESS DFNB12 | ENLARGEMENT | KALLMANN-SYNDROME | MUTATIONS
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 2/2018, Volume 27, Issue 1, pp. 21 - 32
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2019
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 10/2018, Volume 61, Issue 10, pp. 585 - 595
Journal Article