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XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuss, Silke; Yigit, Goekhan; Mckeown, Colina; Savage, Tim; Mulligan, Meghan R.; Bicknell, Louise S.; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey Share Save
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias Sandal, Priyanka; Jong, Chian Ju; Merrill, Ronald A.; Kollman, Grace J.; Paden, Austin H.; Bend, Eric G.; Sullivan, Jennifer; Spillmann, Rebecca C.; Shashi, Vandana; Vulto-van Silfhout, Anneke T.; Pfundt, Rolph; de Vries, Bert B. A.; Li, Pan P.; Bicknell, Louise S.; Strack, Stefan Share Save
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M. Share Save
A second hotspot for pathogenic exon-skipping variants in CDC45 Schoch, Kelly; Ruegg, Mischa S. G.; Fellows, Bridget J.; Cao, Joseph; Uhrig, Sabine; Einsele-Scholz, Stephanie; Biskup, Saskia; Hawarden, Samuel R. A.; Salpietro, Vincenzo; Capra, Valeria; Brown, Chris M.; Accogli, Andrea; Shashi, Vandana; Bicknell, Louise S. Share Save
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency Knapp, Karen M.; Jenkins, Danielle E.; Sullivan, Rosie; Harms, Frederike L.; von Elsner, Leonie; Ockeloen, Charlotte W.; de Munnik, Sonja; Bongers, Ernie M. H. F.; Murray, Jennie; Pachter, Nicholas; Denecke, Jonas; Kutsche, Kerstin; Bicknell, Louise S. Share Save
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity Blakes, Alexander J. M.; Gaul, Emily; Lam, Wayne; Shannon, Nora; Knapp, Karen M.; Bicknell, Louise S.; Jackson, Meremaihi R.; Wade, Emma M.; Robertson, Stephen; White, Susan M.; Heller, Raoul; Chase, Andrew; Baralle, Diana; Douglas, Andrew G. L. Share Save
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome Knapp, Karen M.; Sullivan, Rosie; Murray, Jennie; Gimenez, Gregory; Arn, Pamela; D'Souza, Precilla; Gezdirici, Alper; Wilson, William G.; Jackson, Andrew P.; Ferreira, Carlos; Bicknell, Louise S. Share Save
Biallelic variants in DNA2 cause microcephalic primordial dwarfism Tarnauskaite, Zygimante; Bicknell, Louise S.; Marsh, Joseph A.; Murray, Jennie E.; Parry, David A.; Logan, Clare, V; Bober, Michael B.; deSilva, Deepthi C.; Duker, Angela L.; Sillence, David; Wise, Carol; Jackson, Andrew P.; Murina, Olga; Reijns, Martin A. M. Share Save
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice (vol 7, e1002114, 2011) Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K.; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M.; Schneider, Adele S.; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Megarbane, Andre; Semerci, C. Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sergio B.; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J.; Gillessen-Kaesbach, Gabriele; Brunner, Han G.; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R. Share Save
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency Logan, Clare, V; Murray, Jennie E.; Parry, David A.; Robertson, Andrea; Bellelli, Roberto; Tarnauskaite, Zygimante; Challis, Rachel; Cleal, Louise; Bore, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; Aitman, Tim; Barroso, Ines; Basel, Donald; Bicknell, Louise S.; Goe, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E.; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A.; Morrissey, Rose; Murphy, Nuala; Netchine, Irene; O'connell, Susan M.; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A.; Sherlock, Mark; Syverson, Erin; White, Perrin C.; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B.; Semple, Robert K.; Boulton, Simon J.; Rios, Jonathan J.; Jackson, Andrew P. Share Save
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome Llorens-Agost, Marta; Luessing, Janna; van Beneden, Amandine; Eykelenboom, John; O'Reilly, Dawn; Bicknell, Louise S.; Reynolds, John J.; van Koegelenberg, Marianne; Hurles, Matthew E.; Brady, Angela F.; Jackson, Andrew P.; Stewart, Grant S.; Lowndes, Noel F. Share Save
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism Reynolds, John J.; Bicknell, Louise S.; Carroll, Paula; Higgs, Martin R.; Shaheen, Ranad; Murray, Jennie E.; Papadopoulos, Dimitrios K.; Leitch, Andrea; Murina, Olga; Tarnauskaite, Zygimante; Wessel, Sarah R.; Zlatanou, Anastasia; Vernet, Audrey; von Kriegsheim, Alex; Mottram, Rachel M. A.; Logan, Clare V.; Bye, Hannah; Li, Yun; Brean, Alexander; Maddirevula, Sateesh; Challis, Rachel C.; Skouloudaki, Kassiani; Almoisheer, Agaadir; Alsaif, Hessa S.; Amar, Ariella; Prescott, Natalie J.; Bober, Michael B.; Duker, Angela; Faqeih, Eissa; Seidahmed, Mohammed Zain; Al Tala, Saeed; Alswaid, Abdulrahman; Ahmed, Saleem; Al-Aama, Jumana Yousuf; Altmueller, Janine; Al Balwi, Mohammed; Brady, Angela F.; Chessa, Luciana; Cox, Helen; Fischetto, Rita; Heller, Raoul; Henderson, Bertram D.; Hobson, Emma; Nurnberg, Peter; Percin, E. Ferda; Peron, Angela; Spaccini, Luigina; Quigley, Alan J.; Thakur, Seema; Wise, Carol A.; Yoon, Grace; Alnemer, Maha; Tomancak, Pavel; Yigit, Goekhan; Taylor, A. Malcolm R.; Reijns, Martin A. M.; Simpson, Michael A.; Cortez, David; Alkuraya, Fowzan S.; Mathew, Christopher G.; Jackson, Andrew P.; Stewart, Grant S. Share Save
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