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Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus Schneider, Holm; Schneider, Michael; Lia, Massimiliano; Grange, Dorothy K.; Hadj-Rabia, Smail; Clarke, Angus; Fete, Mary; Jaulent, Agnes; Guiraud, Marlene; Odibo, Anthony; Faschingbauer, Florian Share Save
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle Share Save
Phenylketonuria in adults: we know plenty, but there is much more to learn Harding, Cary O.; Arnold, Georgianne; Berry, Gerard; Christ, Shawn E.; Grange, Dorothy K.; Jurecki, Elaina; Levy, Harvey; Lichter-Konecki, Uta; Longo, Nicola; Mcnutt, Markey; Meachum, Page; Sacharow, Stephanie; Shayota, Brian; Thomas, Janet; Vucko, Erika Share Save
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza Share Save
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features Sharma, Prashant; McFadden, Jason R.; Frost, F. Graeme; Markello, Thomas C.; Grange, Dorothy K.; Introne, Wendy J.; Gahl, William A.; Malicdan, May Christine V. Share Save
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities Moulton, Matthew J.; Atala, Kristhen; Zheng, Yiming; Dutta, Debdeep; Grange, Dorothy K.; Lin, Wen -Wen; Wegner, Daniel J.; Wambach, Jennifer A.; Duker, Angela L.; Bober, Michael B.; Kratz, Lisa; Wise, Carol A.; Oxendine, Ila; Khanshour, Anas; Wangler, Michael F.; Yamamoto, Shinya; Cole, F. Sessions; Rios, Jonathan; Bellen, Hugo J. Share Save
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency Christ, Shawn E.; Arnold, Georgianne; Lichter-Konecki, Uta; Berry, Gerard T.; Grange, Dorothy K.; Harding, Cary O.; Jurecki, Elaina; Levy, Harvey; Longo, Nicola; Morotti, Hadley; Sacharow, Stephanie; Thomas, Janet; White, Desiree A. Share Save
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (vol 111, pg 778, 2024) Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt, J. Lawrence; Muller, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Juusola, Jane; Yang, Jun Share Save
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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase Jones, Amy G.; Aquilino, Matilde; Tinker, Rory J.; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L.; Deward, Stephanie J.; Grange, Dorothy K.; Hajianpour, Mj; Halliday, Benjamin J.; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I.; Polster, Tilman; Spano, Alice; Gomez-Lozano, Ines; Kumar, Abhishek; Poke, Gemma; Phillips, John A.; Underhill, Hunter R.; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P. Share Save
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt II, J. Lawrence; Muller II, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Yang, Jun; Juusola, Jane Share Save
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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA- synthetase (TARS2)-related disorder Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Muehlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegra, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Araoz, Hilda Veronica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; Mcdunnah, Paige; Horvath, Rita; Cogne, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Stergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza Share Save
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial Vockley, Jerry; Sondheimer, Neal; Puurunen, Marja; Diaz, George A.; Ginevic, Ilona; Grange, Dorothy K.; Harding, Cary; Northrup, Hope; Phillips III, John A.; Searle, Shawn; Thomas, Janet A.; Zori, Roberto; Denney, William S.; Ernst, Sharon L.; Humphreys, Kristina; McWhorter, Nicole; Kurtz, Caroline; Brennan, Aoife M. Share Save
Newborn screening for mucopolysaccharidosis type II: Lessons learned Burton, Barbara K.; Shively, Vera; Quadri, Allegra; Warn, Lauren; Burton, Jennifer; Grange, Dorothy K.; Christensen, Katherine; Groepper, Daniel; Ashbaugh, Laura; Ehrhardt, Joan; Basheeruddin, Khaja Share Save
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