Volume 29 Issue 9, September 2021

A reply to: Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

• Reiner A. Veitia

Reply to Veitia

• Marcus Danielsson
• Jonatan Halvardson
• Lars A. Forsberg

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

• Birte Zurek
• Kornelia Ellwanger
• Andreas Rump

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

• Rebecca Schüle
• Dagmar Timmann
• Andreas Rump

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

• Leslie Matalonga
• Carles Hernández-Ferrer
• Andreas Rump

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

• Ana Töpf
• Angela Pyle
• Rita Horvath

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

• Iris B. A. W. te Paske
• José Garcia-Pelaez
• Richarda M. de Voer

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

• Elke de Boer
• Charlotte W. Ockeloen
• Lisenka E. L. M. Vissers

Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy

• Vratko Himič
• Kay E. Davies

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

• Zerin Hyder
• Wim Van Paesschen
• Siddharth Banka

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K⁺ channelopathies

• Karen W. Gripp
• Sarah F. Smithson
• Kerstin Kutsche

Homozygous variants in PANX1 cause human oocyte death and female infertility

• Weijie Wang
• Ronggui Qu
• Qing Sang

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

• Sandra Whalen
• Marie Shaw
• Laurent Villard

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

• Alexander J. M. Dingemans
• Diante E. Stremmelaar
• Bert B. A. de Vries

Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects

• Slim Karkar
• Claire Dandine-Roulland
• Vincent Frouin

Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities

• Richard J. Reynolds
• M. Ryan Irvin
• Ana I. Vazquez

Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins

• Jenny C. Censin
• Jonas Bovijn
• Cecilia M. Lindgren

Reviewer recognition

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

• Birte Zurek
• Kornelia Ellwanger
• Andreas Rump

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

• Rebecca Schüle
• Dagmar Timmann
• Andreas Rump

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

• Leslie Matalonga
• Carles Hernández-Ferrer
• Andreas Rump

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

• Elke de Boer
• Charlotte W. Ockeloen
• Lisenka E. L. M. Vissers