Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum-Reference-Cited by-同舟云学术

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

Published:2017-05 Issue: Volume:70 Page:70-74
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Calloni Sonia F.^ORCID,Cohen Julie S.,Meoded Avner,Juusola Jane,Triulzi Fabio M.^ORCID,Huisman Thierry A.G.M.,Poretti Andrea,Fatemi Ali

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Human genetic disorders of axon guidance;Engle;Cold Spring Harb Perspect Biol,2010

2. Axon guidance proteins in neurological disorders;Van Battum;Lancet Neurol,2015

3. Diffusion tensor imaging and fiber tractography in brain malformations;Poretti;Pediatr Radiol,2013

4. Clinical application of whole-exome sequencing across clinical indications;Retterer;Genet Med,2016

5. Dystroglycan organizes axon guidance cue localization and axonal pathfinding;Wright;Neuron,2012

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The genetic etiologies of bilateral renal agenesis;Prenatal Diagnosis;2024-01-05

2. Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man;Human Molecular Genetics;2022-08-11

3. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract;Kidney International;2022-05

4. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms;Human Molecular Genetics;2022-03-26

5. A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder;PLOS Genetics;2021-09-27