未登录 Associations Between Alcohol Dehydrogenase Mutations and Cleft Lip/Palate: A Scoping Review 酒精脱氢酶突变与唇裂/腭裂之间的关联：一项范围综述 Hyman, Theodore S.; Mantilla-Rivas, Esperanza; Ocasio, Liara Ortiz; Zhang, Athena; Finestone, Sofia; Bradford, Perry; Manrique, Monica; Rogers, Gary F.; Shur, Natasha; Oh, Albert K. 分享 收藏
Robin Sequence and Osteopathia Striata With Cranial Sclerosis (OSCS): A Case Series Robin Sequence and Osteopathia Striata With Cranial Sclerosis (OSCS): 病例报告 Chattopadhyay, Arhana; Ortiz-Ocasio, Liara S.; Shur, Natasha; Mantilla-Rivas, Esperanza; Manrique, Monica; Preciado, Diego; Mudd, Pamela; Bulas, Dorothy; Rogers, Gary F.; Oh, Albert K. 分享 收藏
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Death associated with brain herniation in classical MSUD patients from underrepresented populations Leon, Eyby; Shur, Natasha; Chapman, Kimberly; Grant, Christina Lee; Fraser, Jamie; Regier, Debra; Vergano, Samantha; MacLeod, Erin; Starin, Danielle; Harmon, Jennifer; Laso, Maria Cristina 分享 收藏
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin Lasio, Laura Duque; Leshinski, Angela C.; Ducich, Nicole H.; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B.; Hainline, Bryan E.; Basinger, Alice A.; Wilson, William G.; Diaz, George A.; Erbe, Richard W.; Koeberl, Dwight D.; Vockley, Jerry; Bedoyan, Jirair K. 分享 收藏
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function Lin, Sheng-Jia; Vona, Barbara; Porter, Hillary M.; Izadi, Mahmoud; Huang, Kevin; Lacassie, Yves; Rosenfeld, Jill A.; Khan, Saadullah; Petree, Cassidy; Ali, Tayyiba A.; Muhammad, Nazif; Khan, Sher A.; Muhammad, Noor; Liu, Pengfei; Haymon, Marie-Louise; Rueschendorf, Franz; Kong, Il-Keun; Schnapp, Linda; Shur, Natasha; Chorich, Lynn; Layman, Lawrence; Haaf, Thomas; Pourkarimi, Ehsan; Kim, Hyung-Goo; Varshney, Gaurav K. 分享 收藏
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Baranano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Roisin; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A.; Gabriel, Melissa K.; Rossi, Mari; Fitzpatrick, David R.; Wilkie, Andrew O. M.; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A. Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G.; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J.; Juusola, Jane; Monaghan, Kristin G.; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske 分享 收藏
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling Le, Thuy-Linh; Sribudiani, Yunia; Dong, Xiaomin; Huber, Celine; Kois, Chelsea; Baujat, Genevieve; Gordon, Christopher T.; Mayne, Valerie; Galmiche, Louise; Serre, Valerie; Goudin, Nicolas; Zarhrate, Mohammed; Bole-Feysot, Christine; Masson, Cecile; Nitschke, Patrick; Verheijen, Frans W.; Pais, Lynn; Pelet, Anna; Sadedin, Simon; Pugh, John A.; Shur, Natasha; White, Susan M.; El Chehadeh, Salima; Christodoulou, John; Cormier-Daire, Valerie; Hofstra, R. M. W.; Lyonnet, Stanislas; Tan, Tiong Yang; Attie-Bitach, Tania; Kerstjens-Frederikse, Wilhelmina S.; Amiel, Jeanne; Thomas, Sophie 分享 收藏
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Torti, Erin; Keren, Boris; Palmer, Elizabeth E.; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J.; Andrews, Marisa, V; Atkinson, Celia; Au, Margaret; Berry, Susan A.; Bowling, Kevin M.; Boyle, Jackie; Buratti, Julien; Cathey, Sara S.; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F.; Finley, Sabra Ledare; Graham, John M., Jr.; Grange, Dorothy K.; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M.; Hibbs, Kathleen A.; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R.; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G. Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A.; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G.; Person, Richard E.; Willaert, Rebecca; Solomon, Benjamin D.; Juusola, Jane 分享 收藏
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (vol 21, pg 837, 2019) Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel 分享 收藏
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation Coci, Emanuele G.; Gapsys, Vytautas; Shur, Natasha; Shin-Podskarbi, Yoon; de Groot, Bert L.; Miller, Kathryn; Vockley, Jerry; Sondheimer, Neal; Ganetzky, Rebecca; Freisinger, Peter 分享 收藏
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel 分享 收藏
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria Zori, Roberto; Thomas, Janet A.; Shur, Natasha; Rizzo, William B.; Decker, Celeste; Rosen, Orli; Li, Mingjin; Schweighardt, Becky; Larimore, Kevin; Longo, Nicola 分享 收藏
GABBR2 Mutations Determine Phenotype in Rett Syndrome and Epileptic Encephalopathy Yoo, Yongjin; Jung, Jane; Lee, Yoo-Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang-Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseanne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willaert, Rebecca; Castaldi, Christopher; Tikhonova, Irina; Bilguvar, Kaya; Mane, Shrikant; Kim, Ki Joong; Hwang, Yong Seung; Lee, Seok-Geun; So, Insuk; Lim, Byung Chan; Choi, Hee-Jung; Seong, Jae Young; Shin, Yong Beom; Jung, Hosung; Chae, Jong-Hee; Choi, Murim 分享 收藏
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T.; Monaghan, Kristin G.; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C.; Stegmann, Alexander P. A.; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O.; Chapman, Gavin; Pachter, Nicholas S.; Winlaw, David S.; Mendelsohn, Bryce A.; Dalton, Joline; Sarafoglou, Kyriakie; Karachunski, Peter I.; Lewis, Jane M.; Pedro, Helio; Dunwoodie, Sally L.; Selleri, Licia; Shieh, Joseph 分享 收藏
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans Vetrini, Francesco; D'Alessandro, Lisa C. A.; Akdemir, Zeynep C.; Braxton, Alicia; Azamian, Mahshid S.; Eldomery, Mohammad K.; Miller, Kathryn; Kois, Chelsea; Sack, Virginia; Shur, Natasha; Rijhsinghani, Asha; Chandarana, Jignesh; Ding, Yan; Holtzman, Judy; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Hanchard, Neil A.; Harel, Tamar; Rosenfeld, Jill A.; Belmont, John W.; Lupski, James R.; Yang, Yaping 分享 收藏
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Petrovski, Slave; Kury, Sebastien; Myers, Candace T.; Anyane-Yeboa, Kwame; Cogne, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L.; Wallace, Geoffrey; Rosen, Aaron B. I.; Schelley, Susan; Enns, Gregory M.; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xenia; Schmitt, Sebastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L.; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M.; Bezieau, Stephane; Wierenga, Klaas; Bernstein, Jonathan A.; Scheffer, Ingrid E.; Rosenfeld, Jill A.; Mefford, Heather C.; Isidor, Bertrand; Goldstein, David B. 分享 收藏
Newborn screening for Krabbe disease in New York State: the first eight years' experience 纽约州Krabbe病的新生儿筛查: 前八年的经验 Orsini, Joseph J.; Kay, Denise M.; Saavedra-Matiz, Carlos A.; Wenger, David A.; Duffner, Patricia K.; Erbe, Richard W.; Biski, Chad; Martin, Monica; Krein, Lea M.; Nichols, Matthew; Kurtzberg, Joanne; Escolar, Maria L.; Adams, Darius J.; Arnold, Georgianne L.; Iglesias, Alejandro; Galvin-Parton, Patricia; Kronn, David F.; Kwon, Jennifer M.; Levy, Paul A.; Pellegrino, Joan E.; Shur, Natasha; Wasserstein, Melissa P.; Caggana, Michele 分享 收藏
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines Vogel, B. H.; Bradley, S. E.; Adams, D. J.; D'Aco, K.; Erbe, R. W.; Fong, C.; Iglesias, A.; Kronn, D.; Levy, P.; Morrissey, M.; Orsini, J.; Parton, P.; Pellegrino, J.; Saavedra-Matiz, C. A.; Shur, N.; Wasserstein, M.; Raymond, G. V.; Caggana, M. 分享 收藏
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein Pescosolido, Matthew F.; Schwede, Matthew; Harrison, Ashley Johnson; Schmidt, Michael; Gamsiz, Ece D.; Chen, Wendy S.; Donahue, John P.; Shur, Natasha; Jerskey, Beth A.; Phornphutkul, Chanika; Morrow, Eric M. 分享 收藏
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