Oliver Bartsch

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

<i>De novo</i> and inherited monoallelic variants in <i>TUBA4A</i> cause ataxia and spasticity

Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature

FGFR1 variants contributed to families with tooth agenesis

Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp><i>PHF6</i></scp>

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Sema3a plays a role in the pathogenesis of CHARGE syndrome

Cutis laxa and excessive bone growth due to de novo mutations in <i>PTDSS1</i>

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Specific mosaic <i><scp>KRAS</scp></i> mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

Redefining the MED13L syndrome

<i>FGFR2</i>mutation in 46,XY sex reversal with craniosynostosis

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Key features and clinical variability of COG6-CDG

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

<i>NDST1</i> missense mutations in autosomal recessive intellectual disability

Phenotypic Variability and Risk of Malignancy in<i>SDHC</i>-Linked Paragangliomas: Lessons From Three Unrelated Cases With an Identical Germline Mutation (p.Arg133*)

Hydrops, fetal pleural effusions and chylothorax in three patients with <i>CBL</i> mutations

Homozygote und „compound“-heterozygote RYR1-Mutationen

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET