Rolf W. Stottmann

The paper identifies synergistic variants in CTBP1 and ALPL causing mandibular hypoplasia through impaired Wnt signaling in a mouse model.

This study investigates the roles of Piga and Pgap2 in brain development using genetic ablation models, finding that Piga is critical for survival in the cerebellum while Pgap2 ablations are less severe.

This study uses AAV9-mediated PIGA gene replacement to rescue PIGA deficiency phenotypes in mice, improving survival, brain structure, and neurological function.

The paper identifies a TGFBR2 variant in patients with micrognathia and cleft palate, tests its causality in mice, and finds it does not cause craniofacial anomalies, highlighting challenges in translating genetic findings to models.

The paper identifies Cse1l as critical for neural crest cell survival, showing that its genetic ablation leads to embryonic lethality and increased apoptosis with p53 expression.

The paper investigates the role of P73+ Cajal-Retzius cells and Reelin in cortical morphogenesis, finding that CRs-derived Reelin is essential for radial migration arrest, while CRs also have Reelin-independent functions in hippocampal progenitor proliferation and vessel remodelling.

This study identifies NUBP2 deficiency as a cause of primary microcephaly by showing its role in centrosome and cilia regulation during neurogenesis.

This study shows that Ttc21b is essential for forebrain neural progenitor proliferation and differentiation in mice, leading to microcephaly due to disrupted cell cycle and cytoskeletal defects.

The paper investigates the role of SMPD4 in sphingolipid metabolism and its impact on brain and primary cilia development using a mouse model and human stem cells.

The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

This paper models a human FZD2 variant in mice, identifies limb and cleft palate phenotypes, and shows DKK1 inhibition can normalize limb defects.

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

This study identifies a hypomorphic Spag17 allele in mice that causes PCD-like phenotypes, revealing differential roles of SPAG17 in motile cilia development and hydrocephalus.

This study generates a novel mouse model of inherited GPI deficiency, showing delayed white matter development, ataxia, and premature death due to CNS-specific GPI biosynthesis disruption.

The paper identifies a mutation in Nubp2 through an ENU screen and shows it is required for cranial neural crest survival and midfacial development.

The paper investigates the differential requirements of tubulin genes in mouse forebrain development, showing that some are essential while others are not.

This study identifies a mouse mutant with a mutation in Pgap2, leading to reduced GPI surface expression and developmental defects, and shows folinic acid can rescue some phenotypes.

The paper identifies biallelic NMNAT2 mutations in two fetuses with FADS, showing their role in axon survival and linking them to Wallerian degeneration.

The paper discusses using human sequencing and CRISPR-Cas9 to study a novel craniofacial syndrome, finding that a variant in AMOTL1 causes lethality in mice but its pathogenicity in humans remains unclear.

The paper identifies Gpr63 as a genetic modifier of microcephaly in Ttc21b mouse mutants by linking a QTL to a missense mutation affecting ciliary localization.

This study shows Ttc21b ablation in Bergmann glia causes ectopic granule cells and reduced Shh signaling in the cerebellum, suggesting Ttc21b's role in regulating Shh signaling in these cells.

The paper identifies a de novo TUBA1A mutation linked to cortical dysgenesis and shows it impairs neural progenitor survival and differentiation using iPSCs.

The paper identifies COPB2 mutations as a cause of human microcephaly and shows that Copb2 is essential for embryogenesis and corticogenesis in mice.