S. Schubert

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.

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

J. Kurtzberg, N. Delanty, C. Wolf, 2022, American journal of medical genetics. Part A.

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

S. Berkovic, J. Lemke, M. Hildebrand, 2022, European Journal of Human Genetics.

Neural tube defects in dup(11 q)

M. E. Hodes, P. Bader, R. Munsick, 1984 .

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

S. Berkovic, J. Lemke, M. Hildebrand, 2022, European Journal of Human Genetics.

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

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