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  1. Engerman, Stanley L. [Editor]; Davis, Lance Edwin [Editor] ; NetLibrary, Inc

    Finance, intermediaries, and economic development

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    Cambridge, UK; New York: Cambridge University Press, 2003 ; Boulder, Colo: NetLibrary, 2004

    Published in: EBSCOhost eBook Collection

  2. Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Björn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; [...]

    Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  3. Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Björn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; [...]

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  4. Chao, Hsiao-Tuan; Davids, Mariska; Burke, Elizabeth; Pappas, John G.; Rosenfeld, Jill A.; McCarty, Alexandra J.; Davis, Taylor; Wolfe, Lynne; Toro, Camilo; Tifft, Cynthia; Xia, Fan; Stong, Nicholas; Johnson, Travis K.; Warr, Coral G.; Yamamoto, Shinya; Adams, David R.; Markello, Thomas C.; Gahl, William A.; Bellen, Hugo J.; Wangler, Michael F.; Malicdan, May Christine V.; Adams, David R.; Adams, Christopher J.; Alejandro, Mercedes E.; [...]

    A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

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    Elsevier BV, 2017

    Published in: The American Journal of Human Genetics

  5. Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Bilal, Muhammad; Umair, Muhammad; [...]

    De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

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    Elsevier BV, 2023

    Published in: The American Journal of Human Genetics

  6. Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K G; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C; Alejandro, Mercedes E; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; [...]

    SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

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    Oxford University Press (OUP), 2023

    Published in: Brain

  7. Miller, Ilana M.; Yashar, Beverly M.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; [...]

    Continuing a search for a diagnosis: the impact of adolescence and family dynamics

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    Springer Science and Business Media LLC, 2023

    Published in: Orphanet Journal of Rare Diseases

  8. Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]

    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  9. Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N.; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J.; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B.; Hom, Jason; [...]

    Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  10. Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B.; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N.; Züchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R.; Liu, Pengfei; Wegner, Daniel J.; Paul, Alexander J.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; [...]

    Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  11. Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]

    Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  12. Ravenscroft, Thomas A.; Phillips, Jennifer B.; Fieg, Elizabeth; Bajikar, Sameer S.; Peirce, Judy; Wegner, Jeremy; Luna, Alia A.; Fox, Eric J.; Yan, Yi-Lin; Rosenfeld, Jill A.; Zirin, Jonathan; Kanca, Oguz; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; [...]

    Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  13. Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G.S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; [...]

    Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

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    Elsevier BV, 2021

    Published in: Genetics in Medicine

  14. Lu, Jinfeng; Toro, Camilo; Adams, David R.; Acosta, Maria T.; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; [...]

    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

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    Springer Science and Business Media LLC, 2024

    Published in: BMC Genomics

  15. Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F.; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M.; Murphy, Jennifer L.; Acosta, Maria T.; Wang, Camille; Alderman, Emily; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; [...]

    Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

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    Springer Science and Business Media LLC, 2023

    Published in: npj Genomic Medicine