Found: 21

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  • Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.

    Published in:
    Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 993, doi. 10.1002/jgc4.1707
    By:
    • McConkie‐Rosell, Allyn;
    • Spillmann, Rebecca C.;
    • Schoch, Kelly;
    • Sullivan, Jennifer A.;
    • Walley, Nicole;
    • McDonald, Marie;
    • Hooper, Stephen R.;
    • Shashi, Vandana;
    • Adam, Margaret;
    • Adams, David R.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article

  • Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.

    Published in:
    Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 326, doi. 10.1002/jgc4.1493
    By:
    • Kohler, Jennefer N.;
    • Kelley, Emily G.;
    • Boyd, Brenna M.;
    • Sillari, Catherine H.;
    • Marwaha, Shruti;
    • Wheeler, Matthew T.;
    • 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;
    • Baker, Eva;
    • Balasubramanyam, Ashok
    Publication type:
    Article

  • Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.

    Published in:
    Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 59, doi. 10.1002/jgc4.1451
    By:
    • McConkie‐Rosell, Allyn;
    • Schoch, Kelly;
    • Sullivan, Jennifer;
    • Spillmann, Rebecca C.;
    • Cope, Heidi;
    • Tan, Queenie K.‐G.;
    • Palmer, Christina G. S.;
    • Hooper, Stephen R.;
    • Shashi, Vandana;
    • 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.
    Publication type:
    Article

  • Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.

    Published in:
    Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 439, doi. 10.1002/jgc4.1329
    By:
    • Studwell, Courtney M.;
    • Kelley, Emily G.;
    • Sinsheimer, Janet S.;
    • Palmer, Christina G. S.;
    • LeBlanc, Kimberly;
    • 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;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin
    Publication type:
    Article

  • Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

    Published in:
    Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892
    By:
    • Borja, Nicholas;
    • Bivona, Stephanie;
    • Peart, Lé Shon;
    • Johnson, Brittany;
    • Gonzalez, Joanna;
    • Barbouth, Deborah;
    • Moore, Henry;
    • Guo, Shengru;
    • Bademci, Guney;
    • Tekin, Mustafa;
    • 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.
    Publication type:
    Article

  • Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1665
    By:
    • Cope, Heidi;
    • Barseghyan, Hayk;
    • Bhattacharya, Surajit;
    • Fu, Yulong;
    • Hoppman, Nicole;
    • Marcou, Cherisse;
    • Walley, Nicole;
    • Rehder, Catherine;
    • Deak, Kristen;
    • Alkelai, Anna;
    • Vilain, Eric;
    • Shashi, Vandana;
    • Acosta, Maria T;
    • Adam, Margaret;
    • Adams, David R;
    • Agrawal, Pankaj B;
    • Alejandro, Mercedes E;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley
    Publication type:
    Article

  • Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1692
    By:
    • Sturrock, Beattie R. H.;
    • Macnamara, Ellen F.;
    • McGuire, Peter;
    • Kruk, Shannon;
    • Yang, Ivan;
    • Murphy, Jennifer;
    • Tifft, Cyndi J.;
    • Gordon‐Lipkin, Eliza;
    • 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
    Publication type:
    Article

  • DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1544
    By:
    • Meissner, Laura E.;
    • Macnamara, Ellen F.;
    • D'Souza, Precilla;
    • Yang, John;
    • Vezina, Gilbert;
    • Ferreira, Carlos R.;
    • Zein, Wadih M.;
    • Tifft, Cynthia J.;
    • Adams, David R.;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Agrawal, Pankaj B.;
    • Alejandro, Mercedes E.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney
    Publication type:
    Article

  • Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
    By:
    • McNamee, Lucy;
    • Schoch, Kelly;
    • Huang, Alden;
    • Lee, Hane;
    • Wang, Lee‐kai;
    • Smith, Edward C.;
    • Lark, Robert K.;
    • Buckley, Anne F.;
    • Jobanputra, Vaidehi;
    • Nelson, Stanley F.;
    • Shashi, Vandana;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allenspach, Eric;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley
    Publication type:
    Article

  • Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63627
    By:
    • Stellacci, Emilia;
    • Carter, Jennefer N.;
    • Pannone, Luca;
    • Stevenson, David;
    • Moslehi, Dorsa;
    • Venanzi, Serenella;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allenspach, Eric;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin
    Publication type:
    Article

  • Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
    By:
    • Ezell, Kimberly M.;
    • Tinker, Rory J.;
    • Furuta, Yutaka;
    • Gulsevin, Alican;
    • Bastarache, Lisa;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rives, Lynette;
    • Neumann, Serena;
    • Corner, Brian;
    • Kozuria, Mary;
    • Phillips, John A.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article

  • EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63556
    By:
    • Forghani, Irman;
    • Lang, Steven H.;
    • Rodier, Matthew J.;
    • Bivona, Stephanie A.;
    • 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;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article

  • De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
    By:
    • Ward, Scott K.;
    • Wadley, Alexandrea;
    • Tsai, Chun‐hui;
    • Benke, Paul J.;
    • Emrick, Lisa;
    • Fisher, Kristen;
    • Houck, Kimberly M.;
    • Dai, Hongzheng;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin
    Publication type:
    Article

  • H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1911, doi. 10.1002/ajmg.a.63193
    By:
    • Borja, Nicholas;
    • Borjas‐Mendoza, Paulo;
    • Bivona, Stephanie;
    • Peart, LéShon;
    • Gonzalez, Joanna;
    • Johnson, Brittney Keira;
    • Guo, Shengru;
    • Yusupov, Roman;
    • 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
    Publication type:
    Article

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

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-022-00343-8
    By:
    • 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;
    • Undiagnosed Diseases Network;
    • Adam, Margaret;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article

  • Participation in a national diagnostic research study: assessing the patient experience.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02695-5
    By:
    • Rosenfeld, Lindsay E.;
    • LeBlanc, Kimberly;
    • Nagy, Anna;
    • Ego, Braeden K.;
    • The Undiagnosed Diseases Network;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • 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
    Publication type:
    Article

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

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02598-x
    By:
    • Miller, Ilana M.;
    • Yashar, Beverly M.;
    • Undiagnosed Disease Network;
    • 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
    Publication type:
    Article

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

    Published in:
    BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-023-09935-9
    By:
    • 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.
    Publication type:
    Article

  • Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

    Published in:
    2024
    By:
    • Dohrn, Maike F.;
    • Bademci, Guney;
    • Rebelo, Adriana P.;
    • Jeanne, Médéric;
    • Borja, Nicholas A.;
    • Beijer, Danique;
    • Danzi, Matt C.;
    • Bivona, Stephanie A.;
    • Gueguen, Paul;
    • Zafeer, Mohammad F.;
    • Tekin, Mustafa;
    • Züchner, Stephan;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Case Study

  • Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

    Published in:
    2021
    By:
    • Baldridge, Dustin;
    • Wangler, Michael F.;
    • Bowman, Angela N.;
    • Yamamoto, Shinya;
    • Undiagnosed Diseases Network;
    • 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;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Bale, Jim
    Publication type:
    journal article

  • Impact of disability‐based discrimination in healthcare on parents of children with medical complexity.

    Published in:
    Developmental Medicine & Child Neurology, 2024, v. 66, n. 9, p. 1226, doi. 10.1111/dmcn.15870
    By:
    • Ames, Stefanie G.;
    • Delaney, Rebecca K.;
    • Delgado‐Corcoran, Claudia;
    • Houtrow, Amy J.;
    • Alvey, Justin;
    • Watt, Melissa H.;
    • Murphy, Nancy
    Publication type:
    Article