Megan Cho

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, Xue Qiang Zeng et autres

us, au, gb, ca, gr, cn, fr, se (code pays fourni par la source)

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, Xue Qiang Zeng et autres

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, Xue Qiang Zeng et autres

us, au, gb, ca, gr, cn, fr, se (code pays fourni par la source)

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Ange‐Line Bruel, Antonio Vitobello, Frédéric Tran Mau‐Them, Sophie Nambot et autres

fr, us (code pays fourni par la source)

Additional file 1: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Hugh J. McMillan, Aida Bytyci Telegrafi, Amanda Singleton, Megan Cho et autres

Table S1. Exome sequencing of individuals with ATP8A2 mutations. (XLSX 11 kb)

Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

Mersedeh Rohanizadegan, Sara Mohamed Abdo, Anne O’Donnell‐Luria, Ivana Mihalek et autres

Rapid whole-exome sequencing (rWES) is used in critically ill newborn infants to inform about diagnosis, clinical management, and prognosis. Here we report a male newborn infant with hydrops, pancytopenia, and acute liver failure who was listed for liver transplantation. Given the acuity …

us, Égypte (code pays fourni par la source)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D.M. Peña, Katherine K. Kim, Barbara K. Burton et autres

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Katherine K. Kim, Barbara K. Burton, Maja Hempel et autres

us, de, nl, au, fi, gb (code pays fourni par la source)