Mahshid S. Azamian

ScholarGPS® ID: 56598441381938

Affiliation
Baylor College of Medicine, Houston, United States
Affiliation History

Field
Life Sciences
Discipline
Genetics
Top Specialties
Medical Genetics | Birth Defect | Exome Sequencing | Mutation
Metrics Summary
Publication Count
33
Predicted Citations
388
Predicted h-index
12
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss (journal article)
Sumalde, Angelo Augusto | Yang, Ivana | Yarza, Talitha Karisse | Tobias-Grasso, Celina Ann | Tantoco, Ma. Leah | Davidson, Elizabeth | Chan, Abner | Azamian, Mahshid | Cruz, Teresa Luisa | Lalani, Seema | ... | Chiong, Charlotte
Acta Medica Philippina, volume 57, issue 9 (2023).
10.47895/amp.v57i9.5200
Cited by (1) | Cite | Source
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease (journal article)
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. | ... | Ware, Stephanie M.
Journal of the American Heart Association, volume 12, issue 18 (2023).
10.1161/JAHA.123.029340
Cited by (3) | Cite | Source
Early initiation of B ‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study (journal article)
Miyake, Christina Y. | Ehsan, Saad A. | Zhang, Lilei | Mackenzie, Samuel J. | Azamian, Mahshid S. | Scott, Daryl A. | Hernandez‐Garcia, Andres | Lalani, Seema R.
American Journal of Medical Genetics Part A, volume 191, issue 9, pages 2433-2439 (2023).
10.1002/ajmg.a.63331
Cited by (4) | Cite | Source
Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism (journal article)
Lujan, Agustin Leonardo | Foresti, Ombretta | Sugden, Conor | Brouwers, Nathalie | Farre, Alex Mateo | Vignoli, Alessio | Azamian, Mahshid | Turner, Alicia | Wojnacki, Jose | Malhotra, Vivek
eLife, volume 12 (2023).
10.7554/eLife.85345
Cited by (8) | Cite | Source
Mitochondrial DNA maintenance defects: potential therapeutic strategies (journal article)
Almannai, Mohammed | El-Hattab, Ayman W. | Azamian, Mahshid S. | Ali, May | Scaglia, Fernando
Molecular Genetics and Metabolism, volume 137, issue 1-2, pages 40-48 (2022).
10.1016/j.ymgme.2022.07.003
Cited by (4) | Cite | Source
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias (journal article)
Murali, Chaya N. | Lalani, Seema R. | Azamian, Mahshid S. | Miyake, Christina Y. | Smith, Hadley Stevens
European Journal of Human Genetics, volume 30, issue 9, pages 1044-1050 (2022).
10.1038/s41431-022-01127-5
Cited by (2) | Cite | Source
LMOD2 ‐related dilated cardiomyopathy presenting in late infancy (journal article)
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.
American Journal of Medical Genetics Part A, volume 188, issue 6, pages 1858-1862 (2022).
10.1002/ajmg.a.62699
Cited by (5) | Cite | Source
eP117: Natural history study of an international TANGO2 deficiency cohort (journal article)
Ehsan, Saad | Lay, Erica | Soler-Alfonso, Claudia | Glinton, Kevin | Houck, Kimberly | Tosur, Mustafa | Azamian, Mahshid | Lalani, Seema | Miyake, Christina
Genetics in Medicine, volume 24, issue 3, pages S73- (2022).
10.1016/j.gim.2022.01.153
Cite | Source
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature (journal article)
Manor, Joshua | Dinu, Daniela | Azamian, Mahshid S. | Bi, Weimin | Darilek, Sandra | Lalani, Seema R.
American Journal of Medical Genetics Part A, volume 185, issue 10, pages 2903-2912 (2021).
10.1002/ajmg.a.62368
Cited by (2) | Cite | Source
Health‐related quality of life in adults with osteogenesis imperfecta (journal article)
Murali, Chaya N. | Slater, Brady | Musaad, Salma | Cuthbertson, David | Nguyen, Dianne | Turner, Alicia | Azamian, Mahshid | Tosi, Laura | Rauch, Frank | Sutton, V. Reid | ... | Nagamani, Sandesh C. S.
Clinical Genetics, volume 99, issue 6, pages 772-779 (2021).
10.1111/cge.13939
Cited by (5) | Cite | Source
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation (journal article)
Saida, Ken | Fukuda, Tokiko | Scott, Daryl A. | Sengoku, Toru | Ogata, Kazuhiro | Nicosia, Annarita | Hernandez-Garcia, Andres | Lalani, Seema R. | Azamian, Mahshid S. | Streff, Haley | ... | Matsumoto, Naomichi
Frontiers in Cell and Developmental Biology, volume 9 (2021).
10.3389/fcell.2021.631428
Cited by (4) | Cite | Source
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1 (journal article)
Walters, Michelle E. | Lacassie, Yves | Azamian, Mahshid | Franciskovich, Rachel | Zapata, Gladys | Hernandez, Patricia P. | Liu, Pengfei | Campbell, Ian M. | Bostwick, Bret L. | Lalani, Seema R.
American Journal of Medical Genetics Part A, volume 185, issue 3, pages 916-922 (2021).
10.1002/ajmg.a.62036
Cited by (2) | Cite | Source
A novel CACNA1A variant in a child with early stroke and intractable epilepsy (journal article)
Gudenkauf, Franciska J. | Azamian, Mahshid S. | Hunter, Jill V. | Nayak, Anuranjita | Lalani, Seema R.
Molecular Genetics & Genomic Medicine, volume 8, issue 10 (2020).
10.1002/mgg3.1383
Cited by (11) | Cite | Source
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes (journal article)
Gibson, Shelley | Azamian, Mahshid S. | Lalani, Seema R. | Yen, Kimberly G. | Sutton, V. Reid | Scott, Daryl A.
American Journal of Medical Genetics Part A, volume 182, issue 8, pages 1960-1966 (2020).
10.1002/ajmg.a.61634
Cited by (8) | Cite | Source
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation (journal article)
Coban‐Akdemir, Zeynep H. | Charng, Wu‐Lin | Azamian, Mahshid | Paine, Ingrid S. | Punetha, Jaya | Grochowski, Christopher M. | Gambin, Tomasz | Valdes, Santiago O. | Cannon, Bryan | Zapata, Gladys | ... | Lalani, Seema R.
American Journal of Medical Genetics Part A, volume 182, issue 6, pages 1387-1399 (2020).
10.1002/ajmg.a.61571
Cited by (19) | Cite | Source
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease (journal article)
Pillai, Nishitha R. | Yubero, Delia | Shayota, Brian J. | Oyarzábal, Alfonso | Ghosh, Rajarshi | Sun, Qin | Azamian, Mahshid S. | Arjona, Cesar | Brandi, Núria | Palau, Francesc | ... | Scott, Daryl A.
American Journal of Medical Genetics Part A, volume 179, issue 12, pages 2459-2468 (2019).
10.1002/ajmg.a.61357
Cited by (13) | Cite | Source
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy (journal article)
Schulze, Katharina V. | Bhatt, Amit | Azamian, Mahshid S. | Sundgren, Nathan C. | Zapata, Gladys E. | Hernandez, Patricia | Fox, Karin | Kaiser, Jeffrey R. | Belmont, John W. | Hanchard, Neil A.
Genetics in Medicine, volume 21, issue 11, pages 2453-2461 (2019).
10.1038/s41436-019-0516-z
Cited by (7) | Cite | Source
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees (journal article)
Truong, Brittany T. | Yarza, Talitha K.L. | Bootpetch Roberts, Tori | Roberts, Susannah | Xu, Jonathan | Steritz, Matthew J. | Tobias‐Grasso, Celina A.M. | Azamian, Mahshid | Lalani, Seema R. | Mohlke, Karen L. | ... | Chiong, Charlotte M.
Clinical Genetics, volume 95, issue 5, pages 634-636 (2019).
10.1111/cge.13515
Cited by (7) | Cite | Source
Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome (journal article)
Dailey-Schwartz, Andrew L. | Tadros, Hanna J. | Azamian, Mahshid Sababi | Lalani, Seema R. | Morris, Shaine A. | Allen, Hugh D. | Kim, Jeffrey J. | Landstrom, Andrew P.
The Journal of Pediatrics, volume 202 (2018).
10.1016/j.jpeds.2018.07.022
Cited by (4) | Cite | Source
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers (journal article)
Nagamani, Sandesh C.S. | Agarwal, Umang | Tam, Allison | Azamian, Mahshid | McMeans, Ann | Didelija, Inka C. | Mohammad, Mahmoud A. | Marini, Juan C.
Genetics in Medicine, volume 20, issue 7, pages 708-716 (2018).
10.1038/gim.2017.167
Cited by (8) | Cite | Source | Open Access