Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Hum Mutat. 2022 Jun;43(6):765-771. doi: 10.1002/humu.24356. Epub 2022 Mar 1.
Hum Mutat. 2022.
PMID: 35181961
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Muirhead KJ, Clause AR, Schlachetzki Z, Dubbs H, Perry DL, Hagelstrom RT, Taft RJ, Vanderver A.
Muirhead KJ, et al. Among authors: schlachetzki z.
Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006143. doi: 10.1101/mcs.a006143. Print 2021 Dec.
Cold Spring Harb Mol Case Stud. 2021.
PMID: 34737199
Free PMC article.
Item in Clipboard
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG.
Ghosh SG, et al. Among authors: schlachetzki z.
Eur J Hum Genet. 2021 Jun;29(6):957-964. doi: 10.1038/s41431-021-00832-x. Epub 2021 Apr 6.
Eur J Hum Genet. 2021.
PMID: 33824466
Free PMC article.
Item in Clipboard
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.
Lardelli RM, et al. Among authors: schlachetzki z.
Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.
Nat Genet. 2017.
PMID: 28092684
Free PMC article.
Item in Clipboard
Dopaminergic lesioning impairs adult hippocampal neurogenesis by distinct modification of α-synuclein.
Schlachetzki JC, Grimm T, Schlachetzki Z, Ben Abdallah NM, Ettle B, Vöhringer P, Ferger B, Winner B, Nuber S, Winkler J.
Schlachetzki JC, et al. Among authors: schlachetzki z.
J Neurosci Res. 2016 Jan;94(1):62-73. doi: 10.1002/jnr.23677. Epub 2015 Oct 9.
J Neurosci Res. 2016.
PMID: 26451750
Item in Clipboard
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM; ICSL Interpretation and Reporting Team; Bentley DR, Taft RJ, Perry DL, Coffey AJ.
Clause AR, et al.
Cell Genom. 2023 Jan 31;3(2):100258. doi: 10.1016/j.xgen.2023.100258. eCollection 2023 Feb 8.
Cell Genom. 2023.
PMID: 36819666
Free PMC article.
Item in Clipboard
Cite
Cite