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IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

Developmental cell, 2014-11, Vol.31 (3), p.279-290

2014

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

American journal of human genetics, 2015-12, Vol.97 (6), p.878-885

2015

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SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

American journal of human genetics, 2013-12, Vol.93 (6), p.1135-1142

2013

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Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Human molecular genetics, 2012-02, Vol.21 (4), p.776-783

2012

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The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Disease models & mechanisms, 2015-06, Vol.8 (6), p.527-541

2015

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Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

American journal of human genetics, 2011-09, Vol.89 (3), p.464-473

2011

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Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

Human molecular genetics, 2013-04, Vol.22 (7), p.1358-1372

2013

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The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

Scientific reports, 2019-04, Vol.9 (1), p.5446-5446, Article 5446

2019

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Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma

International journal of gynecological cancer, 2018-10, Vol.28 (8), p.1535-1544

2018

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII [Alpha]1 Chain

American journal of human genetics, 2015-12, Vol.97 (6), p.878

2015

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First person – Zakia Abdelhamed

Disease models & mechanisms, 2020-10, Vol.13 (10)

2020

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A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

Development (Cambridge), 2018-01, Vol.145 (1), p.dev154500-dev154500

2018

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Differential requirements of tubulin genes in mammalian forebrain development

PLoS genetics, 2019-08, Vol.15 (8), p.e1008243

2019

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A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Disease models & mechanisms, 2020-10, Vol.13 (10)

2020

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Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants

PLoS genetics, 2019-11, Vol.15 (11), p.e1008467-e1008467

2019

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Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Disease models & mechanisms, 2021-01, Vol.14 (1)

2021

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Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome

Developmental biology, 2013-05, Vol.377 (1), p.55-66

2013

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P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program

Genetics in Medicine Open, 2024, Vol.2, p.101246, Article 101246

2024

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P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8

Genetics in Medicine Open, 2024, Vol.2, p.101508, Article 101508

2024

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Exogenous nitric oxide delivery protects against cardiopulmonary bypass–associated acute kidney injury: Histologic and serologic evidence from an ovine model

The Journal of thoracic and cardiovascular surgery, 2023-11, Vol.166 (5), p.e164-e173

2023

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Cerebellar Malformations in the Tmem67 Ciliopathy Mouse Model are Caused by Combined Wnt and Shh Signalling Systems Dysregulations

The FASEB journal, 2015-04, Vol.29 (S1)

2015

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Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

American journal of medical genetics. Part A, 2024-07, p.e63818

2024

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A meckelin―filamin A interaction mediates ciliogenesis

Human molecular genetics, 2012-03, Vol.21 (6), p.1272-1286

2012

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IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII [Alpha]1 Chain

First person – Zakia Abdelhamed

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

Differential requirements of tubulin genes in mammalian forebrain development

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome

P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program

P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8

Exogenous nitric oxide delivery protects against cardiopulmonary bypass–associated acute kidney injury: Histologic and serologic evidence from an ovine model

Cerebellar Malformations in the Tmem67 Ciliopathy Mouse Model are Caused by Combined Wnt and Shh Signalling Systems Dysregulations

Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

A meckelin―filamin A interaction mediates ciliogenesis

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