Genet Med
Genet Med
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435
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Last Updated: Aug 05, 2025
Recent Papers
View All 435 PapersA homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Ef…
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and…
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou…
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fag…
Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.
Suckiel SA, Braganza GT, Aguiñiga KL, Odgis JA, Bonini KE, Kenny EE, Hamilton JG, Abul-Husn NS.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg…
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in me…
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, D…
A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management.
Thomas CD, Parvataneni HK, Gray CF, Deen JT, Prieto HA, Pulido LF, Elsey AR, Elwood EN, Starostik P…
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable sei…
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil …
Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Movaghar A, Page D, Scholze D, Hong J, DaWalt LS, Kuusisto F, Stewart R, Brilliant M, Mailick M.
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary…
Sapp JC, Facio FM, Cooper D, Lewis KL, Modlin E, van der Wees P, Biesecker LG.