Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

63 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Kraemer D, Terumalai D, Famiglietti ML, Filges I, Joset P, Koller S, Maurer F, Meier S, Nouspikel T, Sanz J, Zweier C, Abramowicz M, Berger W, Cichon S, Schaller A, Superti-Furga A, Barbié V, Rauch A. Kraemer D, et al. Among authors: joset p. J Pers Med. 2024 Jun 17;14(6):648. doi: 10.3390/jpm14060648. J Pers Med. 2024. PMID: 38929869 Free PMC article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: joset p. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Rauch A, et al. Among authors: joset p. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: joset p. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study; Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. Reuter MS, et al. Among authors: joset p. J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29. J Med Genet. 2017. PMID: 27572252
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN); Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A. Boonsawat P, et al. Among authors: joset p. Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7. Genet Med. 2019. PMID: 30842647 Free PMC article.
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.
Kraemer D, Azzarello-Burri S, Steindl K, Boonsawat P, Zweier M, Dedes KJ, Joset P, Fink D, Rauch A. Kraemer D, et al. Among authors: joset p. Swiss Med Wkly. 2019 Aug 18;149:w20092. doi: 10.4414/smw.2019.20092. eCollection 2019 Aug 12. Swiss Med Wkly. 2019. PMID: 31422574 Free article.
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C. Lang E, et al. Among authors: joset p. Acta Ophthalmol. 2021 Jun;99(4):e594-e607. doi: 10.1111/aos.14615. Epub 2020 Sep 30. Acta Ophthalmol. 2021. PMID: 32996714 Free article.
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüegger CM, Kottke R, Toelle SP, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, Berger W, Gerth-Kahlert C. Rechsteiner D, et al. Among authors: joset p. JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385. JAMA Ophthalmol. 2021. PMID: 34014271 Free PMC article.
63 results