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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.
Response to Briuglia et al.
Marbach F, Schaaf CP. Marbach F, et al. Genet Med. 2021 Feb;23(2):423-424. doi: 10.1038/s41436-020-00977-y. Epub 2020 Oct 5. Genet Med. 2021. PMID: 33012786 Free article. No abstract available.
The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, Michaud V, Margot H, Lespinasse J, Tran Mau Them F, Coubes C, Park J, Grosch S, Roggia C, Grasshoff U, Kalsner L, Denommé-Pichon AS, Afenjar A, Héron B, Keren B, Caro P, Schaaf CP. Marbach F, et al. Am J Med Genet A. 2022 Sep;188(9):2627-2636. doi: 10.1002/ajmg.a.62884. Epub 2022 Jul 5. Am J Med Genet A. 2022. PMID: 35789103
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C. Marbach F, et al. Am J Hum Genet. 2019 Apr 4;104(4):749-757. doi: 10.1016/j.ajhg.2019.02.021. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905398 Free PMC article.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: marbach f. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
Functional and Radiologic Outcomes of Degenerative Versus Traumatic Full-Thickness Rotator Cuff Tears Involving the Supraspinatus Tendon.
Baum C, Audigé L, Stojanov T, Müller SA, Candrian C; ARCR_Pred Study Group; Müller AM, Rosso C, Fankhauser L, Willscheid G, Moroder P, Akgün D, Danzinger V, Gebauer H, Imiolczyk JP, Karpinski K, Lacheta L, Minkus M, Paksoy A, Samaniego E, Thiele K, Weiss I, Suter T, Müller-Lebschi J, Mueller S, Saner M, Haag-Schumacher C, Tamborrini-Schütz G, Trong MLD, Buitrago-Tellez C, Hasler J, Riede U, Weber S, Moor B, Biner M, Fournier S, Gallusser N, Marietan D, Pawlak S, Spormann C, Hansen B, Mamisch N, Durchholz H, Bräm J, Cunningham G, Kourhani A, Ossipow S, Simao P, Lädermann A, Egli R, Erdbrink S, Flückiger R, Lombardo P, Pinworasarn T, Scacchi P, Weihs J, Zumstein M, Flury M, Berther R, Ehrmann C, Hübscher L, Schwappach D, Eid K, Bensler S, Fritz Y, Grünberger N, Kriechling P, Langthaler D, Niehaus R, Nobs R, Benninger E, de Groot Q, Doert A, Ebert S, Grimm P, Mottier F, Pisan M, Schätz J, Schwank A, Wiedenbach J, Scheibel M, Audigé L, Bellmann F, Brune D, de Jong M, Diermayr S, Endell D, Etter M, Freislederer F, Gkikopoulos N, Glanzmann M, Grobet C, Jung C, Moro F, Moroder P, Ringer R, Schätz J, Schwyzer HK, Weber B, Wehrli M, Wirth B, Nötzli M, Franz A, Oswald J, Steiger B, Ameziane… See abstract for full author list ➔ Baum C, et al. Among authors: marbach f. Am J Sports Med. 2024 Feb;52(2):441-450. doi: 10.1177/03635465231219253. Epub 2024 Jan 23. Am J Sports Med. 2024. PMID: 38259113 Free PMC article.
26 results