Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

HH Arts, D Doherty, SEC van Beersum, MA Parisi… - Nature …, 2007 - nature.com
Protein-protein interaction analyses have uncovered a ciliary and basal body protein
network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital …

[HTML][HTML] CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

NT Gorden, HH Arts, MA Parisi, KLM Coene… - The American Journal of …, 2008 - cell.com
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive
conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual …

[PDF][PDF] OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

KLM Coene, R Roepman, D Doherty, B Afroze… - The American Journal of …, 2009 - cell.com
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The
presence of asymptomatic obligate carrier females suggested an X-linked recessive …

[HTML][HTML] Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma

JD Hintzsche, NT Gorden, CM Amato, J Kim… - Melanoma …, 2017 - journals.lww.com
Mucosal melanomas are a rare subtype of melanoma, arising in mucosal tissues, which
have a very poor prognosis due to the lack of effective targeted therapies. This study aimed …

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, MA Parisi, LS Finn… - Journal of medical …, 2010 - jmg.bmj.com
Objective To identify genetic causes of COACH syndrome Background COACH syndrome is
a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia …

[HTML][HTML] Pre-treatment mutational and transcriptomic landscape of responding metastatic melanoma patients to anti-PD1 immunotherapy

CM Amato, JD Hintzsche, K Wells, A Applegate… - Cancers, 2020 - mdpi.com
Immunotherapy, such as anti-PD1, has improved the survival of patients with metastatic
melanoma. However, predicting which patients will respond to immunotherapy remains a …

[CITATION][C] Spectrum of phenotypic findings in individuals with Joubert syndrome and clinical correlation with identified mutations in the NPHP1, AHI1, and RPGRIP1L …

MA Parisi, D Doherty, HH Arts… - ANNALS OF …, 2007 - WILEY-LISS DIV JOHN WILEY & …