Found: 17

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  • A Distributed Whole Genome Sequencing Benchmark Study.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.612515
    By:
    • Corbett, Richard D.;
    • Eveleigh, Robert;
    • Whitney, Joe;
    • Barai, Namrata;
    • Bourgey, Mathieu;
    • Chuah, Eric;
    • Johnson, Joanne;
    • Moore, Richard A.;
    • Moradin, Neda;
    • Mungall, Karen L.;
    • Pereira, Sergio;
    • Reuter, Miriam S.;
    • Thiruvahindrapuram, Bhooma;
    • Wintle, Richard F.;
    • Ragoussis, Jiannis;
    • Strug, Lisa J.;
    • Herbrick, Jo-Anne;
    • Aziz, Naveed;
    • Jones, Steven J. M.;
    • Lathrop, Mark
    Publication type:
    Article

  • Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00957
    By:
    • Manshaei, Roozbeh;
    • Merico, Daniele;
    • Reuter, Miriam S.;
    • Engchuan, Worrawat;
    • Mojarad, Bahareh A.;
    • Chaturvedi, Rajiv;
    • Heung, Tracy;
    • Pellecchia, Giovanna;
    • Zarrei, Mehdi;
    • Nalpathamkalam, Thomas;
    • Khan, Reem;
    • Okello, John B. A.;
    • Liston, Eriskay;
    • Curtis, Meredith;
    • Yuen, Ryan K. C.;
    • Marshall, Christian R.;
    • Jobling, Rebekah K.;
    • Oechslin, Erwin;
    • Wald, Rachel M.;
    • Silversides, Candice K.
    Publication type:
    Article

  • Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34112-z
    By:
    • Chan, Ada J. S.;
    • Engchuan, Worrawat;
    • Reuter, Miriam S.;
    • Wang, Zhuozhi;
    • Thiruvahindrapuram, Bhooma;
    • Trost, Brett;
    • Nalpathamkalam, Thomas;
    • Negrijn, Carol;
    • Lamoureux, Sylvia;
    • Pellecchia, Giovanna;
    • Patel, Rohan V.;
    • Sung, Wilson W. L.;
    • MacDonald, Jeffrey R.;
    • Howe, Jennifer L.;
    • Vorstman, Jacob;
    • Sondheimer, Neal;
    • Takahashi, Nicole;
    • Miles, Judith H.;
    • Anagnostou, Evdokia;
    • Tammimies, Kristiina
    Publication type:
    Article

  • SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

    Published in:
    Human Genetics, 2023, v. 142, n. 2, p. 201, doi. 10.1007/s00439-022-02494-1
    By:
    • Ding, Qiliang;
    • Somerville, Cherith;
    • Manshaei, Roozbeh;
    • Trost, Brett;
    • Reuter, Miriam S.;
    • Kalbfleisch, Kelsey;
    • Stanley, Kaitlin;
    • Okello, John B. A.;
    • Hosseini, S. Mohsen;
    • Liston, Eriskay;
    • Curtis, Meredith;
    • Zarrei, Mehdi;
    • Higginbotham, Edward J.;
    • Chan, Ada J. S.;
    • Engchuan, Worrawat;
    • Thiruvahindrapuram, Bhooma;
    • Scherer, Stephen W.;
    • Kim, Raymond H.;
    • Jobling, Rebekah K.
    Publication type:
    Article

  • Genome sequencing in families with congenital limb malformations.

    Published in:
    Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y
    By:
    • Elsner, Jonas;
    • Mensah, Martin A.;
    • Holtgrewe, Manuel;
    • Hertzberg, Jakob;
    • Bigoni, Stefania;
    • Busche, Andreas;
    • Coutelier, Marie;
    • de Silva, Deepthi C.;
    • Elçioglu, Nursel;
    • Filges, Isabel;
    • Gerkes, Erica;
    • Girisha, Katta M.;
    • Graul-Neumann, Luitgard;
    • Jamsheer, Aleksander;
    • Krawitz, Peter;
    • Kurth, Ingo;
    • Markus, Susanne;
    • Megarbane, Andre;
    • Reis, André;
    • Reuter, Miriam S.
    Publication type:
    Article

  • Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

    Published in:
    2017
    By:
    • Reuter, Miriam S.;
    • Tawamie, Hasan;
    • Buchert, Rebecca;
    • Gebril, Ola Hosny;
    • Froukh, Tawfiq;
    • Thiel, Christian;
    • Uebe, Steffen;
    • Ekici, Arif B.;
    • Krumbiegel, Mandy;
    • Zweier, Christiane;
    • Hoyer, Juliane;
    • Eberlein, Karolin;
    • Bauer, Judith;
    • Scheller, Ute;
    • Strom, Tim M.;
    • Hoffjan, Sabine;
    • Abdelraouf, Ehab R.;
    • Meguid, Nagwa A.;
    • Abboud, Ahmad;
    • Al Khateeb, Mohammed Ayman
    Publication type:
    journal article

  • 7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2737, doi. 10.1002/ajmg.a.61838
    By:
    • Rieger, Melissa;
    • Krumbiegel, Mandy;
    • Reuter, Miriam S.;
    • Schützenberger, Anne;
    • Reis, André;
    • Zweier, Christiane
    Publication type:
    Article

  • A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2145, doi. 10.1002/ajmg.a.61740
    By:
    • Curtis, Meredith;
    • Baribeau, Danielle;
    • Walker, Susan;
    • Carter, Melissa;
    • Costain, Gregory;
    • Lamoureux, Sylvia;
    • Liston, Eriskay;
    • Marshall, Christian R.;
    • Reuter, Miriam S.;
    • Snell, Meaghan;
    • Summers, Jane;
    • Vorstman, Jacob;
    • Jobling, Rebekah K.
    Publication type:
    Article

  • Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2231, doi. 10.1002/ajmg.a.38288
    By:
    • Reuter, Miriam S.;
    • Krumbiegel, Mandy;
    • Schlüter, Gregor;
    • Ekici, Arif B.;
    • Reis, André;
    • Zweier, Christiane
    Publication type:
    Article

  • HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
    By:
    • Reuter, Miriam S.;
    • Sass, Jörn Oliver;
    • Leis, Thomas;
    • Köhler, Julia;
    • Mayr, Johannes A.;
    • Feichtinger, RENé G.;
    • Rauh, Manfred;
    • Schanze, Ina;
    • Bähr, Luzy;
    • Trollmann, Regina;
    • Uebe, SteffEN;
    • Ekici, Arif B.;
    • Reis, André
    Publication type:
    Article

  • NDST1 missense mutations in autosomal recessive intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723
    By:
    • Reuter, Miriam S.;
    • Musante, Luciana;
    • Hu, Hao;
    • Diederich, Stefan;
    • Sticht, Heinrich;
    • Ekici, Arif B.;
    • Uebe, Steffen;
    • Wienker, Thomas F.;
    • Bartsch, Oliver;
    • Zechner, Ulrich;
    • Oppitz, Cornelia;
    • Keleman, Krystyna;
    • Jamra, Rami Abou;
    • Najmabadi, Hossein;
    • Schweiger, Susann;
    • Reis, André;
    • Kahrizi, Kimia
    Publication type:
    Article

  • A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00254-0
    By:
    • Loureiro, Livia O.;
    • Howe, Jennifer L.;
    • Reuter, Miriam S.;
    • Iaboni, Alana;
    • Calli, Kristina;
    • Roshandel, Delnaz;
    • Pritišanac, Iva;
    • Moses, Alan;
    • Forman-Kay, Julie D.;
    • Trost, Brett;
    • Zarrei, Mehdi;
    • Rennie, Olivia;
    • Lau, Lynette Y. S.;
    • Marshall, Christian R.;
    • Srivastava, Siddharth;
    • Godlewski, Brianna;
    • Buttermore, Elizabeth D.;
    • Sahin, Mustafa;
    • Hartley, Dean;
    • Frazier, Thomas
    Publication type:
    Article

  • EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

    Published in:
    2021
    By:
    • Hüffmeier, Ulrike;
    • Kraus, Cornelia;
    • Reuter, Miriam S.;
    • Uebe, Steffen;
    • Abbott, Mary-Alice;
    • Ahmed, Syed A.;
    • Rawson, Kristyn L.;
    • Barr, Eileen;
    • Li, Hong;
    • Bruel, Ange-Line;
    • Faivre, Laurence;
    • Tran Mau-Them, Frédéric;
    • Botti, Christina;
    • Brooks, Susan;
    • Burns, Kaitlyn;
    • Ward, D. Isum;
    • Dutra-Clarke, Marina;
    • Martinez-Agosto, Julian A.;
    • Lee, Hane;
    • Nelson, Stanley F.
    Publication type:
    journal article

  • Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

    Published in:
    JAMA Network Open, 2021, v. 4, n. 5, p. e2110446, doi. 10.1001/jamanetworkopen.2021.10446
    By:
    • Cohn, Iris;
    • Manshaei, Roozbeh;
    • Liston, Eriskay;
    • Okello, John B. A.;
    • Khan, Reem;
    • Curtis, Meredith R.;
    • Krupski, Abby J.;
    • Jobling, Rebekah K.;
    • Kalbfleisch, Kelsey;
    • Paton, Tara A.;
    • Reuter, Miriam S.;
    • Hayeems, Robin Z.;
    • Verstegen, Ruud H. J.;
    • Goldman, Aaron;
    • Kim, Raymond H.;
    • Ito, Shinya
    Publication type:
    Article

  • Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

    Published in:
    JAMA Network Open, 2020, v. 3, n. 9, p. e2018109, doi. 10.1001/jamanetworkopen.2020.18109
    By:
    • Costain, Gregory;
    • Walker, Susan;
    • Marano, Maria;
    • Veenma, Danielle;
    • Snell, Meaghan;
    • Curtis, Meredith;
    • Luca, Stephanie;
    • Buera, Jason;
    • Arje, Danielle;
    • Reuter, Miriam S.;
    • Thiruvahindrapuram, Bhooma;
    • Trost, Brett;
    • Sung, Wilson W. L.;
    • Yuen, Ryan K. C.;
    • Chitayat, David;
    • Mendoza-Londono, Roberto;
    • Stavropoulos, D. James;
    • Scherer, Stephen W.;
    • Marshall, Christian R.;
    • Cohn, Ronald D.
    Publication type:
    Article

  • Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodeling.

    Published in:
    Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05132-2
    By:
    • Reuter, Miriam S.;
    • Sokolowski, Dustin J.;
    • Javier Diaz-Mejia, J.;
    • Keunen, Johannes;
    • de Vrijer, Barbra;
    • Chan, Cadia;
    • Wang, Liangxi;
    • Ryan, Greg;
    • Chiasson, David A.;
    • Ketela, Troy;
    • Scherer, Stephen W.;
    • Wilson, Michael D.;
    • Jaeggi, Edgar;
    • Chaturvedi, Rajiv R.
    Publication type:
    Article

  • The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

    Published in:
    2018
    By:
    • Reuter, Miriam S.;
    • Walker, Susan;
    • Thiruvahindrapuram, Bhooma;
    • Whitney, Joe;
    • Cohn, Iris;
    • Sondheimer, Neal;
    • Yuen, Ryan K.C.;
    • Trost, Brett;
    • Paton, Tara A.;
    • Pereira, Sergio L.;
    • Herbrick, Jo-Anne;
    • Wintle, Richard F.;
    • Merico, Daniele;
    • Howe, Jennifer;
    • MacDonald, Jeffrey R.;
    • Lu, Chao;
    • Nalpathamkalam, Thomas;
    • Sung, Wilson W.L.;
    • Wang, Zhuozhi;
    • Patel, Rohan V.
    Publication type:
    journal article