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Page 1
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Among authors: jalazo er. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Cope HL, Milko LV, Jalazo ER, Crissman BG, Foreman AKM, Powell BC, deJong NA, Hunter JE, Boyea BL, Forsythe AN, Wheeler AC, Zimmerman RS, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Hruska KS, Kruszka P, Kucera KS, Berg JS, Powell CM, Peay HL. Cope HL, et al. Among authors: jalazo er. Genet Med. 2024 Dec;26(12):101290. doi: 10.1016/j.gim.2024.101290. Epub 2024 Oct 5. Genet Med. 2024. PMID: 39375994
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
Potter SN, Reynolds E, Okoniewski KC, Edwards A, Gable J, Hill C, Bakalov V, Zentz S, Whiting C, Cheves E, Garbarini K, Jalazo E, Howell C, Moore A, Wheeler A. Potter SN, et al. Among authors: jalazo e. Ther Adv Rare Dis. 2024 May 27;5:26330040241254122. doi: 10.1177/26330040241254122. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38808315 Free PMC article. Review.
Epilepsy Genetics: Advancements in the Field and Impact on Clinical Practice.
Hunter SE, Jalazo E, Felton TR, Heinzen EL, Shiloh-Malawsky Y. Hunter SE, et al. Among authors: jalazo e. In: Czuczwar SJ, editor. Epilepsy [Internet]. Brisbane (AU): Exon Publications; 2022 Apr 2. Chapter 3. In: Czuczwar SJ, editor. Epilepsy [Internet]. Brisbane (AU): Exon Publications; 2022 Apr 2. Chapter 3. PMID: 35605082 Free Books & Documents. Review.
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.
Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ. Hogan MJ, et al. Among authors: jalazo er. Mol Genet Metab Rep. 2020 Oct 21;25:100669. doi: 10.1016/j.ymgmr.2020.100669. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33101985 Free PMC article.
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