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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
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 213, doi. 10.1002/jgc4.1119
By:
- Merker, Jason;
- Schelley, Susan;
- Enns, Gregory;
- Montgomery, Stephen;
- Zappala, Zach;
- Fresard, Laure;
- Prybol, Cameron;
- Taylor, Robert;
- McFarland, Robert;
- Holmes, Matthew;
- Thompson, Kyle;
- Olahova, Monika;
- Adams, David R.;
- Aday, Aaron;
- Alejandro, Mercedes E.;
- Allard, Patrick;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Baker, Eva;
- Balasubramanyam, Ashok
Publication type:
Article
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 466, doi. 10.1002/jgc4.1094
By:
- Adams, David R.;
- Aday, Aaron;
- Alejandro, Mercedes E.;
- Allard, Patrick;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Barseghyan, Hayk;
- Batzli, Gabriel F.;
- Beggs, Alan H.;
- Behnam, Babak;
- Bellen, Hugo J.;
- Bican, Anna;
- Bick, David P.;
- Birch, Camille L.;
- Boone, Braden E.;
- Bostwick, Bret L.;
- Briere, Lauren C.
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
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
A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1383
By:
- Gudenkauf, Franciska J.;
- Azamian, Mahshid S.;
- Hunter, Jill V.;
- Nayak, Anuranjita;
- Lalani, Seema R.
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
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63445
By:
- Sewani, Soha;
- Azamian, Mahshid S.;
- Mendelsohn, Bryce A.;
- Mau‐Them, Frederic Tran;
- Réda, Manon;
- Nambot, Sophie;
- Isidor, Bertrand;
- van der Smagt, Jasper J.;
- Shen, Joseph J.;
- Shillington, Amelle;
- White, Lori;
- Elloumi, Houda Zghal;
- Baker, Peter R.;
- Svihovec, Shayna;
- Brown, Kathleen;
- Koopman‐Keemink, Yvonne;
- Hoffer, Mariette J. V.;
- Lakeman, Inge M. M.;
- Brischoux‐Boucher, Elise;
- Kinali, Maria
Publication type:
Article
Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331
By:
- Miyake, Christina Y.;
- Ehsan, Saad A.;
- Zhang, Lilei;
- Mackenzie, Samuel J.;
- Azamian, Mahshid S.;
- Scott, Daryl A.;
- Hernandez‐Garcia, Andres;
- Lalani, Seema R.
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
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
By:
- Keehan, Laura;
- Haviland, Isabel;
- Gofin, Yoel;
- Swanson, Lindsay C.;
- El Achkar, Christelle Moufawad;
- Schreiber, John;
- VanNoy, Grace E.;
- O'Heir, Emily;
- O'Donnell‐Luria, Anne;
- Lewis, Richard Alan;
- Magoulas, Pilar;
- Tran, Alyssa;
- Azamian, Mahshid S.;
- Chao, Hsiao‐Tuan;
- Pham, Lisa;
- Samaco, Rodney C.;
- Elsea, Sarah;
- Thorpe, Erin;
- Kesari, Akanchha;
- Perry, Denise
Publication type:
Article
LMOD2‐related dilated cardiomyopathy presenting in late infancy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1858, doi. 10.1002/ajmg.a.62699
By:
- Lay, Erica;
- Azamian, Mahshid S.;
- Denfield, Susan W.;
- Dreyer, William;
- Spinner, Joseph A.;
- Kearney, Debra;
- Zhang, Lilei;
- Worley, Kim C.;
- Bi, Weimin;
- Lalani, Seema R.
Publication type:
Article
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2903, doi. 10.1002/ajmg.a.62368
By:
- Manor, Joshua;
- Dinu, Daniela;
- Azamian, Mahshid S.;
- Bi, Weimin;
- Darilek, Sandra;
- Lalani, Seema R.
Publication type:
Article
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1960, doi. 10.1002/ajmg.a.61634
By:
- Gibson, Shelley;
- Azamian, Mahshid S.;
- Lalani, Seema R.;
- Yen, Kimberly G.;
- Sutton, V. Reid;
- Scott, Daryl A.
Publication type:
Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
By:
- Pillai, Nishitha R.;
- Yubero, Delia;
- Shayota, Brian J.;
- Oyarzábal, Alfonso;
- Ghosh, Rajarshi;
- Sun, Qin;
- Azamian, Mahshid S.;
- Arjona, Cesar;
- Brandi, Núria;
- Palau, Francesc;
- Lalani, Seema R.;
- Artuch, Rafael;
- García‐Cazorla, Angeles;
- Scott, Daryl A.
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
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
Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Published in:
JAMA Pediatrics, 2017, v. 171, n. 12, p. 1, doi. 10.1001/jamapediatrics.2017.3438
By:
- Linyan Meng;
- Pammi, Mohan;
- Saronwala, Anirudh;
- Magoulas, Pilar;
- Ghazi, Andrew Ray;
- Vetrini, Francesco;
- Jing Zhang;
- Weimin He;
- Dharmadhikari, Avinash V.;
- Chunjing Qu;
- Ward, Patricia;
- Braxton, Alicia;
- Narayanan, Swetha;
- Xiaoyan Ge;
- Tokita, Mari J.;
- Santiago-Sim, Teresa;
- Hongzheng Dai;
- Theodore Chiangc;
- Smith, Hadley;
- Azamian, Mahshid S.
Publication type:
Article
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Published in:
Journal of the American Heart Association, 2023, v. 12, n. 18, p. 1, doi. 10.1161/JAHA.123.029340
By:
- Landis, Benjamin J.;
- Helvaty, Lindsey R.;
- Geddes, Gabrielle C.;
- Lin, Jiuann-Huey Ivy;
- Yatsenko, Svetlana A.;
- Lo, Cecilia W.;
- Border, William L.;
- Wechsler, Stephanie Burns;
- Murali, Chaya N.;
- Azamian, Mahshid S.;
- Lalani, Seema R.;
- Hinton, Robert B.;
- Garg, Vidu;
- McBride, Kim L.;
- Hodge, Jennelle C.;
- Ware, Stephanie M.
Publication type:
Article
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 11, p. 2331, doi. 10.1093/hmg/ddw071
By:
- Hanchard, Neil A.;
- Swaminathan, Shanker;
- Bucasas, Kristine;
- Furthner, Dieter;
- Fernbach, Susan;
- Azamian, Mahshid S.;
- Xueqing Wang;
- Lewin, Mark;
- Towbin, Jeffrey A.;
- D'Alessandro, Lisa C. A.;
- Morris, Shaine A.;
- Dreyer, William;
- Denfield, Susan;
- Ayres, Nancy A.;
- Franklin, Wayne J.;
- Justino, Henri;
- Lantin-Hermoso, M. Regina;
- Ocampo, Elena C.;
- Santos, Alexia B.;
- Parekh, Dhaval
Publication type:
Article
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 461, doi. 10.1002/humu.24332
By:
- Gofin, Yoel;
- Wang, Tianyun;
- Gillentine, Madelyn A.;
- Scott, Tiana M.;
- Berry, Aliska M.;
- Azamian, Mahshid S.;
- Genetti, Casie;
- Agrawal, Pankaj B.;
- Picker, Jonathan;
- Wojcik, Monica H.;
- Delgado, Mauricio R.;
- Lynch, Sally A.;
- Scherer, Stephen W.;
- Howe, Jennifer L.;
- Bacino, Carlos A.;
- DiTroia, Stephanie;
- VanNoy, Grace E.;
- O'Donnell‐Luria, Anne;
- Lalani, Seema R.;
- Graf, William D.
Publication type:
Article
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
Published in:
PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175962
By:
- Grau, Christina;
- Starkovich, Molly;
- Azamian, Mahshid S.;
- Xia, Fan;
- Cheung, Sau Wai;
- Evans, Patricia;
- Henderson, Alex;
- Lalani, Seema R.;
- Scott, Daryl A.
Publication type:
Article

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