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CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Dev Med Child Neurol. 2024 Apr;66(4):456-468. doi: 10.1111/dmcn.15747. Epub 2023 Sep 28.
Dev Med Child Neurol. 2024.
PMID: 37771170
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Olson HE, Demarest S, Pestana-Knight E, Moosa AN, Zhang X, Pérez-Pérez JR, Weisenberg J, O'Connor Prange E, Marsh ED, Rajaraman RR, Suter B, Katyayan A, Haviland I, Daniels C, Zhang B, Greene C, DeLeo M, Swanson L, Love-Nichols J, Benke T, Harini C, Poduri A.
Olson HE, et al. Among authors: love nichols j.
Epilepsia. 2023 Jul;64(7):1821-1832. doi: 10.1111/epi.17630. Epub 2023 May 15.
Epilepsia. 2023.
PMID: 37114835
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Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE.
Haviland I, et al. Among authors: love nichols ja.
Pediatr Neurol. 2023 Jan;138:71-80. doi: 10.1016/j.pediatrneurol.2022.10.006. Epub 2022 Oct 26.
Pediatr Neurol. 2023.
PMID: 36403551
Free PMC article.
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Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S.
Chopra M, et al. Among authors: love nichols j.
Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24.
Ann Clin Transl Neurol. 2022.
PMID: 35076175
Free PMC article.
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A survey of aortic disease biorepository participants' preferences for return of research genetic results.
Love-Nichols J, Uhlmann WR, Arscott P, Willer C, Hornsby W, Roberts JS.
Love-Nichols J, et al.
J Genet Couns. 2021 Jun;30(3):645-655. doi: 10.1002/jgc4.1341. Epub 2020 Dec 14.
J Genet Couns. 2021.
PMID: 33319384
Free PMC article.
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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS.
Farmer CA, et al. Among authors: love nichols j.
Am J Intellect Dev Disabil. 2020 Nov 1;125(6):475-480. doi: 10.1352/1944-7558-125.6.475.
Am J Intellect Dev Disabil. 2020.
PMID: 33211814
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Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group.
Srivastava S, et al. Among authors: love nichols ja.
Genet Med. 2020 Oct;22(10):1731-1732. doi: 10.1038/s41436-020-0913-3.
Genet Med. 2020.
PMID: 32728138
Free PMC article.
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group.
Srivastava S, et al. Among authors: love nichols ja.
Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11.
Genet Med. 2019.
PMID: 31182824
Free PMC article.
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