Not logged in CIROZ is dispensable in ancestral vertebrates but essential for left in humans Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno Share Save
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C. Share Save
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal Share Save
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access Ellard, Sian; Morgan, Sian; Wynn, Sarah L.; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F.; Deans, Zandra C.; Scott, Richard H.; Hill, Sue L.; Baple, Emma L.; Taylor, Robert W. Share Save
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases Baple, Emma L.; Scott, Richard H.; Banka, Siddharth; Buchanan, James; Fish, Louise; Wynn, Sarah; Wilkinson, Dominic; Ellard, Sian; MacArthur, Daniel G.; Stark, Zornitza Share Save
Primate-specific ZNF808 is essential for pancreatic development in humans De Franco, Elisa; Owens, Nick D. L.; Montaser, Hossam; Wakeling, Matthew N.; Saarimaki-Vire, Jonna; Triantou, Athina; Ibrahim, Hazem; Balboa, Diego; Caswell, Richard C.; Jennings, Rachel E.; Kvist, Jouni A.; Johnson, Matthew B.; Muralidharan, Sachin; Ellard, Sian; Wright, Caroline F.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Hanley, Neil A.; Flanagan, Sarah E.; Otonkoski, Timo; Hattersley, Andrew T.; Imbeault, Michael; Laimon, Wafaa; Hassan, Samar S.; Abdullah, Mohamed A.; Fritzberg, Anders; Wakeling, Emma; Nathwani, Nisha; Elbarbary, Nancy; Osman, Amani; Alkandari, Hessa; alTararwa, Abeer; Habeb, Abdelhadi; Al-Agha, Abdulmoein Eid; Ahmad, Ihab Abdulhamed; Aldulaimi, Majida Noori Nasaif; Ustyol, Ala; Binomar, Hiba Mohammed Amin; Shagrani, Mohammad Share Save
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H. Share Save
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibanez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Moller, Rikke S.; Fenger, Christina D.; Klint Nielsen, Jens Erik; Datta, Anita N.; Gorman, Kathleen M.; King, Mary D.; Linhares, Natalia D.; Burton, Barbara K.; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J.; Muthusamy, Karthik; Schimmenti, Lisa A.; Starnes, Keith; Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Lassuthova, Petra; Jahodova, Alena; Porter, Brenda E.; Couque, Nathalie; Colin, Estelle; Prouteau, Clement; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E.; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E.; Mefford, Heather C.; Carvill, Gemma L. Share Save
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna Share Save
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis Adamo, Christin S.; Beyens, Aude; Schiavinato, Alvise; Keene, Douglas R.; Tufa, Sara F.; Morgelin, Matthias; Brinckmann, Jurgen; Sasaki, Takako; Niehoff, Anja; Dreiner, Maren; Pottie, Lore; Muino-Mosquera, Laura; Gulec, Elif Yilmaz; Gezdirici, Alper; Braghetta, Paola; Bonaldo, Paolo; Wagener, Raimund; Paulsson, Mats; Bornaun, Helen; De Rycke, Riet; De Bruyne, Michiel; Baeke, Femke; Devine, Walter P.; Gangaram, Balram; Tam, Allison; Balasubramanian, Meena; Ellard, Sian; Moore, Sandra; Symoens, Sofie; Shen, Joseph; Cole, Stacey; Schwarze, Ulrike; Holmes, Kathryn W.; Hayflick, Susan J.; Wiszniewski, Wojciech; Nampoothiri, Sheela; Davis, Elaine C.; Sakai, Lynn Y.; Sengle, Gerhard; Callewaert, Bert Share Save
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism Wakeling, Matthew N.; Owens, Nick D. L.; Hopkinson, Jessica R.; Johnson, Matthew B.; Houghton, Jayne A. L.; Dastamani, Antonia; Flaxman, Christine S.; Wyatt, Rebecca C.; Hewat, Thomas, I; Hopkins, Jasmin J.; Laver, Thomas W.; van Heugten, Rachel; Weedon, Michael N.; De Franco, Elisa; Patel, Kashyap A.; Ellard, Sian; Morgan, Noel G.; Cheesman, Edmund; Banerjee, Indraneel; Hattersley, Andrew T.; Dunne, Mark J.; Richardson, Sarah J.; Flanagan, Sarah E. Share Save
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S.; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Vatevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Turki, Ilhem Ben Youssef; Jones, Wendy D.; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Ponnudas, Prabhakar (Prab); Robinson, Robert; Keim, Sara Margrete Boen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M.; Hurst, Jane A. Share Save
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony Share Save
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) Loong, Lucy; Garrett, Alice; Allen, Sophie; Choi, Subin; Durkie, Miranda; Callaway, Alison; Drummond, James; Burghel, George J.; Robinson, Rachel; Torr, Beth; Berry, Ian R.; Wallace, Andrew J.; Eccles, Diana M.; Ellard, Sian; Baple, Emma; Evans, D. Gareth; Woodward, Emma R.; Kulkarni, Anjana; Lalloo, Fiona; Tischkowitz, Marc; Lucassen, Anneke; Hanson, Helen; Turnbull, Clare Share Save
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder Janssen, Beau D. E.; van den Boogaard, Marie-Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Ounap, Katrin; Firth, Helen, V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J.; van Gassen, Koen; van Jaarsveld, Richard H. Share Save
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood French, Courtney E.; Dolling, Helen; Megy, Karyn; Sanchis-Juan, Alba; Kumar, Ajay; Delon, Isabelle; Wakeling, Matthew; Mallin, Lucy; Agrawal, Shruti; Austin, Topun; Walston, Florence; Park, Soo-Mi; Parker, Alasdair; Piyasena, Chinthika; Bradbury, Kimberley; Ellard, Sian; Rowitch, David H.; Raymond, F. Lucy Share Save
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome Ismail, Vardha; Zachariassen, Linda G.; Godwin, Annie; Sahakian, Mane; Ellard, Sian; Stals, Karen L.; Baple, Emma; Brown, Kate Tatton; Foulds, Nicola; Wheway, Gabrielle; Parker, Matthew O.; Lyngby, Signe M.; Pedersen, Miriam G.; Desir, Julie; Bayat, Allan; Musgaard, Maria; Guille, Matthew; Kristensen, Anders S.; Baralle, Diana Share Save
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes Wyatt, Rebecca C.; Hagopian, William A.; Roep, Bart O.; Patel, Kashyap A.; Resnick, Brittany; Dobbs, Rebecca; Hudson, Michelle; De Franco, Elisa; Ellard, Sian; Flanagan, Sarah E.; Hattersley, Andrew T.; Oram, Richard A.; Johnson, Matthew B. Share Save
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans Guimier, Anne; de Pontual, Loic; Braddock, Stephen R.; Torti, Erin; Perez-Jurado, Luis A.; Munoz-Cabello, Patricia; Arumi, Montserrat; Monaghan, Kristin G.; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D.; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cecile; Houyel, Lucile; Cohen, Laurence; Lyonnet, Stanislas; Bajolle, Fanny; Amiel, Jeanne; Gordon, Christopher T. Share Save
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Broly, Martin; Polevoda, Bogdan, V; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L. E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S.; Brown, Natasha; Riazuddin, Saima; Bezieau, Stephane; Fu, Dragony; Isidor, Bertrand; Cogne, Benjamin; O'Connell, Mitchell R. Share Save
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