未登录 TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus Duy, Phan Q.; Jux, Bettina; Zhao, Shujuan; Mekbib, Kedous Y.; Dennis, Evan; Dong, Weilai; Nelson-Williams, Carol; Mehta, Neel H.; Shohfi, John P.; Juusola, Jane; Allington, Garrett; Smith, Hannah; Marlin, Sandrine; Belhous, Kahina; Monteleone, Berrin; Schaefer, G. Bradley; Pisarska, Margareta D.; Vasquez, Jaime; Estrada-Veras, Juvianee, I; Keren, Boris; Mignot, Cyril; Flore, Leigh A.; Palafoll, Irene, V; Alper, Seth L.; Lifton, Richard P.; Haider, Shozeb; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kolanus, Waldemar; Kahle, Kristopher T. 分享 收藏
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Se Bastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan 分享 收藏
Bi-allelic variants in INTS11 are associated with a complex neurological disorder Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Hubshman, Monika Weisz; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; De Luque, Jorge Luis Granadillo; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A.; Prabhakar, Prab; Gosswein, Sophie; Di Donato, Nataliya; Bertini, Enrico S.; Wangler, Michael F.; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W.; Bellen, Hugo J. 分享 收藏
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Multidisciplinary Consulting Team for Complicated Cases of Neurodevelopmental and Neurobehavioral Disorders: Assessing the Opportunities and Challenges of Integrating Pharmacogenomics into a Team Setting Gill, Pritmohinder S.; Elchynski, Amanda L.; Porter-Gill, Patricia A.; Goodson, Bradley G.; Scott, Mary Ann; Lipinski, Damon; Seay, Amy; Kehn, Christina; Balmakund, Tonya; Schaefer, G. Bradley 分享 收藏
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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study OTOF相关听神经病谱系障碍的自然史: 一项多中心研究 Thorpe, Ryan K.; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G. Bradley; Peters, B. Robert; Chan, Kenny H.; Schatz, Krista S.; Bodurtha, Joann; Robin, Nathaniel H.; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J. H. 分享 收藏
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital 实施药物基因组学测试: 阿肯色州儿童医院的单中心经验 Gill, Pritmohinder S.; Yu, Feliciano B., Jr.; Porter-Gill, Patricia A.; Boyanton, Bobby L., Jr.; Allen, Judy C.; Farrar, Jason E.; Veerapandiyan, Aravindhan; Prodhan, Parthak; Bielamowicz, Kevin J.; Sellars, Elizabeth; Burrow, Andrew; Kennedy, Joshua L.; Clothier, Jeffery L.; Becton, David L.; Rule, Don; Schaefer, G. Bradley 分享 收藏
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder 确定X连锁MSL3-related障碍的基因型和表型谱 Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias 分享 收藏
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy NR4A2的从头变体与神经发育障碍和癫痫有关 Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H.; Koeleman, Bobby P. C. 分享 收藏
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability Li, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffault, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M. M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M. J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T.; Scarano, Maria; Schaefer, G. Bradley; Brooks, Susan S.; Hughes, Susan Starling; van Gassen, K. L., I; van Hagen, Johanna M.; Pandita, Tej K.; Agrawal, Pankaj B.; Campeau, Philippe M.; Yang, Xiang-Jiao 分享 收藏
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency Beck, David B.; Petracovici, Ana; He, Chongsheng; Moore, Hannah W.; Louie, Raymond J.; Ansar, Muhammad; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Santos-Cortez, Regie Lyn P.; Prijoles, Eloise J.; Bend, Renee; Keren, Boris; Mignot, Cyril; Nougues, Marie-Christine; Ounap, Katrin; Reimand, Tiia; Pajusalu, Sander; Zahid, Muhammad; Saqib, Muhammad Arif Nadeem; Buratti, Julien; Seaby, Eleanor G.; McWalter, Kirsty; Telegrafi, Aida; Baldridge, Dustin; Shinawi, Marwan; Leal, Suzanne M.; Schaefer, G. Bradley; Stevenson, Roger E.; Banka, Siddharth; Bonasio, Roberto; Fahrner, Jill A. 分享 收藏
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia Haijes, Hanneke A.; Koster, Maria J. E.; Rehmann, Holger; Li, Dong; Hakonarson, Hakon; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G. Bradley; Lehman, Anna; van de Laar, Ingrid M. B. H.; Tesselaar, Coranne D.; Turner, Clesson; Goldenberg, Alice; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalova, Darina; Havlovicova, Marketa; Vlckova, Marketa; Sedlacek, Zdenek; Lopez, Elena; Ragoussis, Vassilis; Pagnamenta, Alistair T.; Kini, Usha; Vos, Harmjan R.; van Es, Robert M.; van Schaik, Richard F. M. A.; van Essen, Ton A. J.; Kibaek, Maria; Taylor, Jenny C.; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Fagerberg, Christina; Martin, Donna M.; van Gassen, Koen L., I; Pfundt, Rolph; Falk, Marni J.; McCormick, Elizabeth M.; Timmers, H. T. Marc; van Hasselt, Peter M. 分享 收藏
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D.; Aylsworth, Arthur S.; Azizi, Amedeo A.; Basel, Donald G.; Bellus, Gary; Bird, Lynne M.; Blazo, Maria A.; Burke, Leah W.; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C.; Dills, Shelley K.; Dosa, Laura; Greenwood, Robert S.; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K.; Hernandez-Chico, Concepcion; Janssens, Sandra; Jones, Kristi J.; Jordan, Justin T.; Kannu, Peter; Korf, Bruce R.; Lewis, Andrea M.; Listernick, Robert H.; Lonardo, Fortunato; Mahoney, Maurice J.; Ojeda, Mayra Martinez; McDonald, Marie T.; McDougall, Carey; Mendelsohn, Nancy; Miller, David T.; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastian; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A.; Randolph, Linda M.; Rauen, Katherine A.; Rednam, Surya; Rutledge, S. Lane; Saletti, Veronica; Schaefer, G. Bradley; Schorry, Elizabeth K.; Scott, Daryl A.; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J.; Syed, Ashraf; Trapane, Pamela L.; Ullrich, Nicole J.; Wakefield, Emily G.; Walsh, Laurence E.; Wangler, Michael F.; Zackai, Elaine; Claes, Kathleen B. M.; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M. 分享 收藏
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019) Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D.; Aylsworth, Arthur S.; Azizi, Amedeo A.; Basel, Donald G.; Bellus, Gary; Bird, Lynne M.; Blazo, Maria A.; Burke, Leah W.; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C.; Dills, Shelley K.; Dosa, Laura; Greenwood, Robert S.; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K.; Hernandez-Chico, Concepcion; Janssens, Sandra; Jones, Kristi J.; Jordan, Justin T.; Kannu, Peter; Korf, Bruce R.; Lewis, Andrea M.; Listernick, Robert H.; Lonardo, Fortunato; Mahoney, Maurice J.; Ojeda, Mayra Martinez; McDonald, Marie T.; McDougall, Carey; Mendelsohn, Nancy; Miller, David T.; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastien; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A.; Randolph, Linda M.; Rauen, Katherine A.; Rednam, Surya; Rutledge, S. Lane; Saletti, Veronica; Schaefer, G. Bradley; Schorry, Elizabeth K.; Scott, Daryl A.; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J.; Syed, Ashraf; Trapane, Pamela L.; Ullrich, Nicole J.; Wakefield, Emily G.; Walsh, Laurence E.; Wangler, Michael F.; Zackai, Elaine; Claes, Kathleen B. M.; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M. 分享 收藏
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK 泛素连接酶UBE3B在智力障碍和语音缺失时被破坏，通过靶向BCKDK调节代谢途径 Cheon, Solmi; Kaur, Kiran; Nijem, Nadine; Tuncay, Islam Oguz; Kumar, Pooja; Dean, Milan; Juusola, Jane; Guillen-Sacoto, Maria J.; Bedoukian, Emma; Ierardi-Curto, Lynne; Kaplan, Paige; Schaefer, G. Bradley; Mishra, Prashant; Chahrour, Maria H. 分享 收藏
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features Turnpenny, Peter D.; Wright, Michael J.; Sloman, Melissa; Caswell, Richard; van Essen, Anthony J.; Gerkes, Erica; Pfundt, Rolph; White, Susan M.; Shaul-Lotan, Nava; Carpenter, Lori; Schaefer, G. Bradley; Fryer, Alan; Innes, A. Micheil; Forbes, Kirsten P.; Chung, Wendy K.; McLaughlin, Heather; Henderson, Lindsay B.; Roberts, Amy E.; Heath, Karen E.; Paumard-Hernandez, Beatriz; Gener, Blanca; Fawcett, Katherine A.; Gjergja-Juraski, Romana; Pilz, Daniela T.; Fry, Andrew E. 分享 收藏
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Synofzik, Matthis; Helbig, Katherine L.; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G. Bradley; Gburek-Augustat, Janina; Zuchner, Stephan; Kraegeloh-Mann, Ingeborg; Baets, Jonathan; de Jonghe, Peter; Bauer, Peter; Chen, S. R. Wayne; Schoels, Ludger; Schuele, Rebecca 分享 收藏
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