The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The American Journal of Human Genetics · Sep 1, 2026Peer-reviewedGenetic & Genomic Medicine

Who am I? Optimal Tissue for Germline Genetic Testing Post-Stem Cell Transplantation

Matthias Mertens, Mona Sadlo, Jörn-Sven Kühl, Klaus Hans Metzeler, Louisa Zschenderlein, Jeanett Edelmann, Claudia Lehmann, Sarah Thull, Mert Karakaya, Clara Velmans, Theresa Tumewu, Matthias Böhme, Christina Klötzer, Anne Weigert, Vladan Vucinic, , Mareike Mertens

This study identifies optimal tissues for germline genetic testing post-stem cell transplantation, finding buccal swabs and nails have higher donor DNA than eyebrow hair.

bioRxiv · Jan 20, 2025 · PreprintGenetics

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine J. Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, , Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

medRxiv · Jun 6, 2023 · PreprintGenetic & Genomic Medicine

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

Yuji Nakamura, Issei S. Shimada, Reza Maroofian, Henry Houlden, Micol Falabella, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, , Shinji Saitoh

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

medRxiv · Apr 26, 2023 · PreprintGenetic & Genomic Medicine