Laura Gogoll

发表

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

M. Tartaglia, M. Anselmi, L. Mercurio, 2018, Human mutation.

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

R. Schiffmann, H. Sticht, A. Rauch, 2017, European journal of medical genetics.

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

S. Feil, W. Berger, C. Gerth-Kahlert, 2021, JAMA ophthalmology.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Anselm H. C. Horn, Sharyn A. Lincoln, A. Verloes, 2019, Genetics in Medicine.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

S. Papuc, H. Sticht, A. Rauch, 2018, European Journal of Human Genetics.

Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

B. Tutschek, A. Rauch, C. Gerth-Kahlert, 2021, American journal of medical genetics. Part A.

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

J. Etzler, H. Steinkellner, Laura Gogoll, 2014, European Journal of Human Genetics.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

S. Papuc, H. Sticht, A. Rauch, 2018, European Journal of Human Genetics.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.