Works matching AU Boerkoel, Cornelius F.

Results: 61
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    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 931, doi. 10.1002/humu.22851
    By:
    • Buske, Orion J.;
    • Girdea, Marta;
    • Dumitriu, Sergiu;
    • Gallinger, Bailey;
    • Hartley, Taila;
    • Trang, Heather;
    • Misyura, Andriy;
    • Friedman, Tal;
    • Beaulieu, Chandree;
    • Bone, William P.;
    • Links, Amanda E.;
    • Washington, Nicole L.;
    • Haendel, Melissa A.;
    • Robinson, Peter N.;
    • Boerkoel, Cornelius F.;
    • Adams, David;
    • Gahl, William A.;
    • Boycott, Kym M.;
    • Brudno, Michael
    Publication type:
    Article
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    Detecting false-positive signals in exome sequencing.

    Published in:
    Human Mutation, 2012, v. 33, n. 4, p. 609, doi. 10.1002/humu.22033
    By:
    • Fuentes Fajardo, Karin V.;
    • Adams, David;
    • Mason, Christopher E.;
    • Sincan, Murat;
    • Tifft, Cynthia;
    • Toro, Camilo;
    • Boerkoel, Cornelius F;
    • Gahl, William;
    • Markello, Thomas
    Publication type:
    Article
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    SMARCAL1 and replication stress.

    Published in:
    Nucleus (1949-1034), 2010, v. 1, n. 3, p. 245, doi. 10.4161/nucl.1.3.11739
    By:
    • Bansbach, Carol E.;
    • Boerkoel, Cornelius F.;
    • Cortez, David
    Publication type:
    Article
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    NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 732, doi. 10.1038/ng.883
    By:
    • Gunay-Aygun, Meral;
    • Falik-Zaccai, Tzipora C;
    • Vilboux, Thierry;
    • Zivony-Elboum, Yifat;
    • Gumruk, Fatma;
    • Cetin, Mualla;
    • Khayat, Morad;
    • Boerkoel, Cornelius F;
    • Kfir, Nehama;
    • Yan Huang;
    • Maynard, Dawn;
    • Dorward, Heidi;
    • Berger, Katherine;
    • Kleta, Robert;
    • Anikster, Yair;
    • Arat, Mutlu;
    • Freiberg, Andrew S.;
    • Kehrel, Beate E.;
    • Jurk, Kerstin;
    • Cruz, Pedro
    Publication type:
    Article
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    Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

    Published in:
    Nature Genetics, 2002, v. 30, n. 2, p. 215, doi. 10.1038/ng821
    By:
    • Boerkoel, Cornelius F.;
    • Takashima, Hiroshi;
    • John, Joy;
    • Yan, Jiong;
    • Stankiewicz, Pawel;
    • Rosenbarker, Lisa;
    • André, Jean-Luc;
    • Bogdanovic, Radovan;
    • Burguet, Antoine;
    • Cockfield, Sandra;
    • Cordeiro, Isabel;
    • Fründ, Stefan;
    • Illies, Friederike;
    • Joseph, Mark;
    • Kaitila, Ilkka;
    • Lama, Giuliana;
    • Loirat, Chantal;
    • McLeod, D. Ross;
    • Milford, David V.
    Publication type:
    Article
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    NOTCH1 loss of the TAD and PEST domain: An antimorph?

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1593, doi. 10.1002/ajmg.a.63167
    By:
    • Boerkoel, Pierre;
    • Huynh, Stephanie;
    • Yang, Gui Xiang;
    • Boerkoel, Cornelius F.;
    • Patel, Millan S.;
    • Lehman, Anna;
    • Terry, Jefferson;
    • Elbert, Adrienne
    Publication type:
    Article
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    Phenotypic Evolution of UNC80 Loss of Function.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3106, doi. 10.1002/ajmg.a.37929
    By:
    • Valkanas, Elise;
    • Schaffer, Katherine;
    • Dunham, Christopher;
    • Maduro, Valerie;
    • du Souich, Christèle;
    • Rupps, Rosemarie;
    • Adams, David R.;
    • Baradaran‐Heravi, Alireza;
    • Flynn, Elise;
    • Malicdan, May C.;
    • Gahl, William A.;
    • Toro, Camilo;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2440, doi. 10.1002/ajmg.a.37822
    By:
    • Szafranski, Przemyslaw;
    • Coban‐Akdemir, Zeynep H.;
    • Rupps, Rosemarie;
    • Grazioli, Serge;
    • Wensley, David;
    • Jhangiani, Shalini N.;
    • Popek, Edwina;
    • Lee, Anna F.;
    • Lupski, James R.;
    • Boerkoel, Cornelius F.;
    • Stankiewicz, Paweł
    Publication type:
    Article
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    MED23-associated intellectual disability in a non-consanguineous family.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1374, doi. 10.1002/ajmg.a.37047
    By:
    • Trehan, Aditi;
    • Brady, Jacqueline M.;
    • Maduro, Valerie;
    • Bone, William P.;
    • Huang, Yan;
    • Golas, Gretchen A.;
    • Kane, Megan S.;
    • Lee, Paul R.;
    • Thurm, Audrey;
    • Gropman, Andrea L.;
    • Paul, Scott M.;
    • Vezina, Gilbert;
    • Markello, Thomas C.;
    • Gahl, William A.;
    • Boerkoel, Cornelius F.;
    • Tifft, Cynthia J.
    Publication type:
    Article
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    ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709
    By:
    • Shehata, Laila;
    • Simeonov, Dimitre R.;
    • Raams, Anja;
    • Wolfe, Lynne;
    • Vanderver, Adeline;
    • Li, Xueli;
    • Huang, Yan;
    • Garner, Shannon;
    • Boerkoel, Cornelius F.;
    • Thurm, Audrey;
    • Herman, Gail E.;
    • Tifft, Cynthia J.;
    • He, Miao;
    • Jaspers, Nicolaas G.J.;
    • Gahl, William A.
    Publication type:
    Article
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    SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
    By:
    • Baradaran-Heravi, Alireza;
    • Raams, Anja;
    • Lubieniecka, Joanna;
    • Cho, Kyoung Sang;
    • DeHaai, Kristi A.;
    • Basiratnia, Mitra;
    • Mari, Pierre-Olivier;
    • Xue, Yutong;
    • Rauth, Michael;
    • Olney, Ann Haskins;
    • Shago, Mary;
    • Choi, Kunho;
    • Weksberg, Rosanna A.;
    • Nowaczyk, Malgorzata J.M.;
    • Wang, Weidong;
    • Jaspers, Nicolaas G.J.;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1662, doi. 10.1002/ajmg.a.35377
    By:
    • Niederhoffer, Karen Y.;
    • Peñaherrera, Maria;
    • Pugash, Denise;
    • Rupps, Rosemarie;
    • Arbour, Laura;
    • Tessier, Francine;
    • Choufani, Sanaa;
    • Zhao, Chunhua;
    • Manokhina, Irina;
    • Shuman, Cheryl;
    • Robinson, Wendy P.;
    • Weksberg, Rosanna;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 2, p. 1, doi. 10.1371/journal.pgen.1006481
    By:
    • Zhang, Yihan;
    • Huang, Haigen;
    • Zhao, Gexin;
    • Yokoyama, Tadafumi;
    • Vega, Hugo;
    • Huang, Yan;
    • Sood, Raman;
    • Bishop, Kevin;
    • Maduro, Valerie;
    • Accardi, John;
    • Toro, Camilo;
    • Boerkoel, Cornelius F.;
    • Lyons, Karen;
    • Gahl, William A.;
    • Duan, Xiaohong;
    • Malicdan, May Christine V.;
    • Lin, Shuo
    Publication type:
    Article
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    Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
    By:
    • Chong Li;
    • Brazill, Jennifer M.;
    • Sha Liu;
    • Bello, Christofer;
    • Yi Zhu;
    • Morimoto, Marie;
    • Cascio, Lauren;
    • Pauly, Rini;
    • Diaz-Perez, Zoraida;
    • Malicdan, May Christine V.;
    • Hongbo Wang;
    • Boccuto, Luigi;
    • Schwartz, Charles E.;
    • Gahl, William A.;
    • Boerkoel, Cornelius F.;
    • Zhai, R. Grace
    Publication type:
    Article
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    Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8
    By:
    • Albert, Jessica S.;
    • Bhattacharyya, Nisan;
    • Wolfe, Lynne A.;
    • Bone, William P.;
    • Maduro, Valerie;
    • Accardi, John;
    • Adams, David R.;
    • Schwartz, Charles E.;
    • Norris, Joy;
    • Wood, Tim;
    • Gafni, Rachel I.;
    • Collins, Michael T.;
    • Tosi, Laura L.;
    • Markello, Thomas C.;
    • Gahl, William A.;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    CMT4A: Identification of a Hispanic GDAP1 founder mutation.

    Published in:
    Annals of Neurology, 2003, v. 53, n. 3, p. 400
    By:
    • Cornelius F. Boerkoel;
    • Hiroshi Takashima;
    • Masanori Nakagawa;
    • Shuji Izumo;
    • Dawna Armstrong;
    • Ian Butler;
    • Pedro Mancias;
    • Sozos C. H. Papasozomenos;
    • Lawrence Z. Stern
    Publication type:
    Article
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    Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

    Published in:
    Annals of Neurology, 2002, v. 51, n. 6, p. 709, doi. 10.1002/ana.10213
    By:
    • Takashima, Hiroshi;
    • Boerkoel, Cornelius F.;
    • De Jonghe, Peter;
    • Ceuterick, Chantal;
    • Martin, Jean-Jacques;
    • Voit, Thomas;
    • Schröder, J.-Michael;
    • Williams, Anna;
    • Brophy, Peter J.;
    • Timmerman, Vincent;
    • Lupski, James R.
    Publication type:
    Article
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    Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20
    By:
    • Dias, Cristina;
    • McDonald, Allison;
    • Sincan, Murat;
    • Rupps, Rosemarie;
    • Markello, Thomas;
    • Salvarinova, Ramona;
    • Santos, Rui F;
    • Menghrajani, Kamal;
    • Ahaghotu, Chidi;
    • Sutherland, Darren P;
    • Fortuno, Edgardo S;
    • Kollmann, Tobias R;
    • Demos, Michelle;
    • Friedman, Jan M;
    • Speert, David P;
    • Gahl, William A;
    • Boerkoel, Cornelius F
    Publication type:
    Article
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