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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Among authors: krawitz pm. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. Averdunk L, et al. Among authors: krawitz p. Genet Med. 2023 Jul;25(7):100836. doi: 10.1016/j.gim.2023.100836. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013901 Free article.
Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Among authors: krawitz p. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.
Computational facial analysis for rare Mendelian disorders.
Hsieh TC, Krawitz PM. Hsieh TC, et al. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32061. doi: 10.1002/ajmg.c.32061. Epub 2023 Aug 16. Am J Med Genet C Semin Med Genet. 2023. PMID: 37584245 Review.
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
Zieger HK, Weinhold L, Schmidt A, Holtgrewe M, Juranek SA, Siewert A, Scheer AB, Thieme F, Mangold E, Ishorst N, Brand FU, Welzenbach J, Beule D, Paeschke K, Krawitz PM, Ludwig KU. Zieger HK, et al. HGG Adv. 2022 Dec 5;4(1):100166. doi: 10.1016/j.xhgg.2022.100166. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36589413 Free PMC article.
154 results