- ORCID iD
-
0000-0003-3388-5944
Show
Sort by
-
- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
-
Mind the gap : long-read sequencing as a diagnostic tool for deciphering intellectual disability
(2025) -
- Journal Article
- A1
- open access
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
-
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis
-
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
-
- Conference Paper
- C3
- open access
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
-
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
-
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
-
Long-read sequencing enables full characterization of previously unresolved structural variation
-
- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability