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Year Number of Results
2009 2
2015 4
2016 3
2017 2
2018 2
2019 6
2020 11
2021 4
2022 7
2023 11
2024 8

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51 results

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Page 1
Lmod2 is necessary for effective skeletal muscle contraction.
Larrinaga TM, Farman GP, Mayfield RM, Yuen M, Ahrens-Nicklas RC, Cooper ST, Pappas CT, Gregorio CC. Larrinaga TM, et al. Among authors: ahrens nicklas rc. Sci Adv. 2024 Mar 15;10(11):eadk1890. doi: 10.1126/sciadv.adk1890. Epub 2024 Mar 13. Sci Adv. 2024. PMID: 38478604 Free PMC article.
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.
Gracia-Diaz C, Perdomo JE, Khan ME, Roule T, Disanza BL, Cajka GG, Lei S, Gagne AL, Maguire JA, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French DL, Goldberg EM, Wang K, Glessner JT, Akizu N. Gracia-Diaz C, et al. Among authors: ahrens nicklas rc. Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007. Cell Stem Cell. 2024. PMID: 38458176 No abstract available.
NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.
Clark KJ, Lubin EE, Gonzalez EM, Sangree AK, Layo-Carris DE, Durham EL, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJ. Clark KJ, et al. Among authors: ahrens nicklas rc. bioRxiv [Preprint]. 2024 Feb 4:2024.02.01.578438. doi: 10.1101/2024.02.01.578438. bioRxiv. 2024. PMID: 38352329 Free PMC article. Preprint.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC. Pham V, et al. Among authors: ahrens nicklas rc. Mol Genet Metab. 2024 Feb;141(2):108116. doi: 10.1016/j.ymgme.2023.108116. Epub 2023 Dec 21. Mol Genet Metab. 2024. PMID: 38161139
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC. Keisling J, et al. Among authors: ahrens nicklas rc. J Pediatr. 2024 Feb;265:113808. doi: 10.1016/j.jpeds.2023.113808. Epub 2023 Nov 3. J Pediatr. 2024. PMID: 37923198
Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy.
Wongkittichote P, Cook EB, Reynoso Santos FJ, Ahrens-Nicklas RC, Hong X, Ganetzky RD. Wongkittichote P, et al. Among authors: ahrens nicklas rc. J Appl Lab Med. 2024 Mar 1;9(2):404-407. doi: 10.1093/jalm/jfad060. J Appl Lab Med. 2024. PMID: 37883603 No abstract available.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. Among authors: ahrens nicklas rc. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986
51 results