List of works - Jennifer L Silhavy

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

scientific article

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

scientific article

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

List of works by Jennifer L Silhavy

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder