Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski, Przemyslaw, Schaaf, Christian P., Person, Richard E., Gibson, Ian B., Xia, Zhilian, Mahadevan, Sangeetha, Wiszniewska, Joanna, Bacino, Carlos A., Lalani, Seema, Potocki, Lorraine, Kang, Sung-Hae, Patel, Ankita, Cheung, Sau Wai, Probst, Frank J., Graham, Brett H., Shinawi, Marwan, Beaudet, Arthur L., Stankiewicz, Pawel·2010·Human Mutation
DOI 10.1002/humu.21284

Cited by (140)

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  9. Developmental Disabilities, Autism, and Schizophrenia at a Single Locus
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    Amal Mahmoud Mohamed, Ola Mohamed Eid, Khalda Said Amr, Rana Mahrous, Maha Hemimi, Amal Elsaeid, Peter S. F. Erian, Sally Gharib, Shymaa H. Hussein, Phoebe M. Abd El-Massieh et al. · 2025 · BMC Medical Genomics
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  15. Estudos de comorbidades e dos aspectos genéticos de pacientes com transtorno do espectro autista
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  16. Distinct mechanisms of CNV formation at the human 15q13.3 locus
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  18. Interpretation of molecular imbalances detected by array-CGH analysis
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  19. Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
    Gabrielle S. Vianna, Mariana Lopes de Freitas, Valdirene T. de Oliveira, Rafaella X. Pietra, Michele da S. Gonçalves, Patrícia P.O. Rocha, Rejane A.C. Monteiro, Luana C. de Assis Ferreira, Rosana R. Xavier, Andréia M. Carvalho et al. · 2016 · Molecular Syndromology
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  21. Functional outcomes of copy number variations of Chrna7 gene
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  22. Additional file 6 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  23. Additional file 13 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  24. Additional file 5 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  25. Additional file 10 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  26. Additional file 4 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  27. Additional file 8 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  28. Sequenciamento do exoma e reanálise de variações do número de cópias em indivíduos com deficiência intelectual/atraso do desenvolvimento neuropsicomotor e (ou) anomalias congênitas múltiplas
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  29. Childhood onset violence and early onset schizophrenia. A molecular diagnosis of 15q13.2-13.3 duplication syndrome and the effects on insight and engagement
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  30. Focal refractory epilepsy associated to 15q13.3 microduplication
    Emilio García Gómez, Daniel San‐Juan, Juan Romero Valencia, C Arenas · 2025 · BMJ Case Reports
  31. Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?
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  32. Additional file 2 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  33. Additional file 3 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  34. Additional file 9 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Turner, Tychele N., James E. Huettner et al. · 2021 · Figshare
  35. Additional file 1 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  36. Additional file 11 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  37. Additional file 12 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  38. Additional file 14 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  39. Additional file 7 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  40. Identification of case-specific copy number variants reveals novel genetic insights into familial hemiplegic migraine pathogenesis
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