论文信息 - Solving the unsolved rare diseases in Europe - 字舞流文

Solving the unsolved rare diseases in Europe

A. Hoischen | H. Graessner | B. Zurek | S. Beltrán

[1] Pieter B. T. Neerincx,et al. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases , 2021, European Journal of Human Genetics.

[2] L. Vissers,et al. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis , 2021, European Journal of Human Genetics.

[3] Pieter B. T. Neerincx,et al. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data , 2021, European Journal of Human Genetics.

[4] I. Nelson,et al. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) , 2021, European Journal of Human Genetics.

[5] A. Hoischen,et al. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report , 2021, European Journal of Human Genetics.

[6] Pieter B. T. Neerincx,et al. Solving unsolved rare neurological diseases—a Solve-RD viewpoint , 2021, European Journal of Human Genetics.