Jakob Schuy

Artiklar

Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(16):9392

Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.

Eisfeldt J; Schuy J; Stattin E-L; Kvarnung M; Falk A; Feuk L; Lindstrand A
Article: FRONTIERS IN GENETICS. 2021;12:803683

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.

Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand A
Article: JOURNAL OF CELL SCIENCE. 2018;131(18):jcs223594

LRRC45 contributes to early steps of axoneme extension.

Kurtulmus B; Yuan C; Schuy J; Neuner A; Hata S; Kalamakis G; Martin-Villalba A; Pereira G

Thesis / dissertation: 2023

Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

Schuy, Jakob
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:576-577

Multi-omics analysis of DNA and RNA identifies disruption of MINK1 in a balanced translocation carrier with congenital cataract and epilepsy

Eisfeldt J; Schuy J; Stattin E-L; Lindstrand A
Review: TRENDS IN GENETICS. 2022;38(11):1134-1146

Complex genomic rearrangements: an underestimated cause of rare diseases.

Schuy J; Grochowski CM; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):588

A case of ring chromosome 21 with hemifacial microsomia, developmental and speech delay analysed with WGS and patient-derived iPS

Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Shahsavani M; Nilsson D; Falk A; Lindstrand A