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List of works by Bernt Popp

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

scientific article published on 11 December 2018

BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome

scientific article published on 12 August 2021

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

scientific article published in 2022

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

scientific article published on 26 February 2019

Exome Pool-Seq in neurodevelopmental disorders.

scientific article

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders

scientific article published on 25 October 2021

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

scientific article published on 25 September 2021

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

scientific article published in Scientific Reports

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

scientific article published on 05 November 2020

Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

scientific article published on 25 October 2019

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

scientific article

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

scientific article published on 8 March 2018

TRIM28 haploinsufficiency predisposes to Wilms tumor

scientific article published on 14 February 2019

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

scientific article published on 01 July 2020

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