Quinn Murphy
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Quinn Murphy has a total of 14 co-authors. Here are the top co-authors by number of shared publications:
- Alan H. Beggs
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
1 shared publication - Casie A. Genetti
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
1 shared publication - Catherine A. Brownstein
Department of Pediatrics, Harvard Medical School, Boston, MA, USA
1 shared publication - Chrystal F. Mavros
Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA 02115, USA
1 shared publication Eugene D’aNgelo
Developmental Neuropsychiatry Program, Department of Psychiatry, Boston Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
1 shared publication- Grace E. VanNoy
Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA 02115, USA
1 shared publication
Latest Publications
- Open Access
- 13 November 2018
- Published by Springer Nature in BMC Medical Genetics
- Vol. 19 (1) , 197
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report
TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophrenia and childhood disintegrative disorder. Here, we report on a patient with a de novo nonsynonymous TRRAP single-nucleotide variant (EST00000355540.3:c.5957G > A, p.Arg1986Gln) and early onset major depression accompanied by a psychotic episode (before age 10) that occurred in the context of longer standing nonverbal learning disability and a past history of obsessions and compulsions. The de novo variant and presentation of very early onset psychosis indicate a rare Mendelian disorder inheritance model. The genotype and behavioral abnormalities of this patient are reviewed.
- 13 November 2018
- Published by Springer Nature in BMC Medical Genetics
- Vol. 19 (1) , 197
Open AccessDe novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report
TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophrenia and childhood disintegrative disorder. Here, we report on a patient with a de novo nonsynonymous TRRAP single-nucleotide variant (EST00000355540.3:c.5957G > A, p.Arg1986Gln) and early onset major depression accompanied by a psychotic episode (before age 10) that occurred in the context of longer standing nonverbal learning disability and a past history of obsessions and compulsions. The de novo variant and presentation of very early onset psychosis indicate a rare Mendelian disorder inheritance model. The genotype and behavioral abnormalities of this patient are reviewed.