List of works - Jill E. Urquhart

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

scientific article published in July 2009

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

scientific article published on 8 July 2008

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

scientific article published on 8 January 2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

scientific article published on 15 January 2015

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

scientific article

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

scientific article

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

scientific article

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

scientific article

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

scientific article published in February 2006

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

scientific article

Expanding the clinical spectrum of SLC29A3 gene defects

article

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

scientific article published on 01 May 2011

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

scientific article

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

scientific article published on 04 October 2011

LRIG2 mutations cause urofacial syndrome

scientific article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

scientific article

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

scientific article

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

scientific article

Mutations in HPSE2 Cause Urofacial Syndrome

scientific article published in August 2010

Mutations in HPSE2 cause urofacial syndrome

scientific article

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

scientific article

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

scientific article published in August 2011

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

scientific article

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3

article

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

scientific article

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

scientific article published on 23 August 2010

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

scientific article

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

scientific article published on 10 December 2010

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome

scientific article published on 03 November 2011

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members ⬇️

scientific article published on June 16, 2011

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

scientific article published on 28 May 2009

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

scientific article published on 21 October 2013

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

scientific article

List of works by Jill E. Urquhart

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

Expanding the clinical spectrum of SLC29A3 gene defects

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

LRIG2 mutations cause urofacial syndrome

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Mutations in HPSE2 Cause Urofacial Syndrome

Mutations in HPSE2 cause urofacial syndrome

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members ⬇️

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome