Henry Oppermann

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

J. Lupski, D. Seelow, D. Horn, 2023, 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.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human 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.

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

P. Kakadia, L. Riley, Meer Jacob Rahimi, 2023, European journal of human genetics : EJHG.