Sonja Neuser

发表

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

A. Pagnamenta, J. Lupski, J. Meiler, 2020, medRxiv.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

R. Abou Jamra, H. Rehder, A. Leal, 2021, European Journal of Human Genetics.

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

I. Harting, M. Parker, A. van Haeringen, 2021, European Journal of Human Genetics.

Pharmacological inhibition of focal segmental glomerulosclerosis‐related, gain of function mutants of TRPC6 channels by semi‐synthetic derivatives of larixol

M. Schaefer, J. Rademann, Sebastian Köhling, 2017, British journal of pharmacology.

Pharmacological inhibition of FSGS-related TRPC6 gain of function mutants by semisynthetic larixol-derived compounds

M. Schaefer, J. Rademann, Sebastian Köhling, 2017 .

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

H. Rehder, S. Rohde, A. Leal, 2021, medRxiv.

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

M. Sahin, M. Faghihi, S. Auvin, 2021, Neuropediatrics.

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

J. Hentschel, R. Abou Jamra, M. Ziemer, 2020, European Journal of Human Genetics.

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

D. Viskochil, R. Schnur, H. Sticht, 2023, Pediatric neurology.