List of works - Stephen Robertson

A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging

scientific article published on 18 February 2012

A Turner syndrome patient carrying a mosaic distal x chromosome marker

scientific article published on 17 March 2014

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

scientific article

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

scientific article published on 14 May 2008

A new acro-osteolysis syndrome caused by duplications including PTHLH

scientific article published on 10 July 2014

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

scientific article published in December 2006

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

scientific article published on 03 November 2011

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

scientific article published on 06 January 2017

A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.

scientific article published in April 2018

Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms

scientific article published on 12 June 2009

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

scientific article

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

scientific article published on 11 March 2019

An osteosclerotic form of Robinow syndrome

scientific article published on 14 July 2014

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

scientific article published on 14 August 2014

Association of mutations in FLNA with craniosynostosis

scientific article published on 15 April 2015

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

scientific article published on 12 May 2017

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

scientific article (publication date: 15 October 2003)

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes

scientific article published on 13 July 2016

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

scientific article published on 02 December 2019

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

scientific article published on 26 October 2015

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

article

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III).

scientific article

Characterizing the oculoauriculofrontonasal syndrome.

scientific article published on April 2008

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

scientific article published on 21 November 2017

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

scientific article published on 01 August 1999

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

scientific article

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

scientific article

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

scientific article

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

scientific article published on 12 October 2017

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

scientific article published on 01 October 2010

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

scientific article published on 18 February 2015

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

scientific article

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype ⬇️

scientific article published on March 2, 2013

Early childhood growth in ethnic groups predisposed to NIDDM: a prospective study

scientific article published on 01 May 1998

Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand

scientific article published on 13 October 2017

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

scientific article

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

scientific article published on 02 November 2021

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

scientific article published on 27 June 2012

Filamin a, periventricular nodular heterotopia, and West syndrome.

scientific article published in June 2006

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

scientific article published on 29 December 2020

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

scientific article published on 21 April 2015

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

scientific article published on 01 August 2006

Functional copper transport explains neurologic sparing in occipital horn syndrome

scientific article

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

scientific article

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

scientific article published on 26 November 2018

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

scientific article published on 14 December 2008

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

scientific article published in August 2005

Hereditary thyroglossal duct cysts

scientific article published on 13 July 2005

Hypogonadotrophic hypogonadism in Roifman syndrome

scientific article published on 01 June 2000

Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming

scientific article published on 30 December 2015

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder

scientific article

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

scientific article published on 6 June 2001

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

scientific article

Longitudinal studies of gene-environment interaction in common diseases--good value for money?

scientific article published on January 2008

Longitudinal studies to detect gene×environment interactions in common disease – Bang for your buck? A commentary on Chaufan's “How much can a large population study on genes, environments, their interactions and common diseases contribute to th

article

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

scientific article published on 01 October 2010

Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.

scientific article

Maternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes

scientific article published on 03 July 2007

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

scientific article published on 01 September 2015

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

scientific article published on 12 March 2018

Molecular pathology of filamin A: diverse phenotypes, many functions.

scientific article published on July 2004

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.

scientific article published in April 2014

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

scientific article published in March 2012

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

scientific article published in December 2015

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

scientific article published on 26 March 2015

Mutations in ECEL1 cause distal arthrogryposis type 5D

scientific article

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

scientific article

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

scientific article

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

scientific journal article

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

scientific article published on 29 February 2004

Mutations in the netrin-1 gene cause congenital mirror movements

scientific article

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

scientific article

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

scientific article published on 12 September 2013

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

scientific article published on 23 June 2009

Neuropsychiatric disease in patients with periventricular heterotopia.

scientific article published on January 2013

Newborn screening: new developments, new dilemmas.

scientific article

Nosology and classification of genetic skeletal disorders: 2010 revision.

scientific article

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia.

scientific article published in March 2013

Oromandibular limb hypogenesis complex (Hanhart syndrome): A severe adult phenotype

scientific article published on 01 April 1999

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.

scientific article

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

scientific article published in May 2007

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

scientific article published on 22 November 2020

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

scientific article

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular heterotopia in common microdeletion syndromes

scientific article

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

scientific article published on 01 October 2010

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

scientific article

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders

scientific article published in May 2006

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

scientific article published on 21 June 2017

Re: Currarinot triade

scientific article published on 01 September 2012

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlation

scientific article published on 28 March 2015

RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape.

scientific article

Resolving the impasse on predictive genetic testing in minors: will more evidence be the solution? ⬇️

scientific article published on April 19, 2012

Severe osteopathia striata with cranial sclerosis in a female case with wholeWTXgene deletion

scientific article published on 07 February 2013

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

scientific article

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

scientific article published in July 2003

Sotos syndrome and cutis laxa.

scientific article published on January 1999

Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity

scientific article published in 2022

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

scientific article published on 01 September 2008

Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.

scientific article published on 27 March 2017

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

scientific article

Telomere length and periodontal attachment loss: a prospective cohort study

scientific article published on 29 December 2015

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

scientific article

The 4q-syndrome: delineation of the minimal critical region to within band 4q31

scientific article published on 01 January 1998

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

scientific article

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis

scientific article published on 27 February 2020

The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease

scientific article published on 13 April 2018

The male phenotype in osteopathia striata congenita with cranial sclerosis

scientific article published on 01 October 2011

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance ⬇️

scientific article published on April 4, 2012

Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

scientific article published on 01 January 2003

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A ⬇️

scientific article published on October 3, 2012

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

scientific article published in July 2017

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour ⬇️

scientific article published on August 2, 2010

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

scientific article

Wilms tumor in patients with osteopathia striata with cranial sclerosis

scientific article published on 02 September 2020

Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications

scientific article published on 01 June 1998

List of works by Stephen Robertson

A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging

A Turner syndrome patient carrying a mosaic distal x chromosome marker

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

A new acro-osteolysis syndrome caused by duplications including PTHLH

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.

Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

An osteosclerotic form of Robinow syndrome

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

Association of mutations in FLNA with craniosynostosis

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Cantú syndrome is caused by mutations in ABCC9.

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III).

Characterizing the oculoauriculofrontonasal syndrome.

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype ⬇️

Early childhood growth in ethnic groups predisposed to NIDDM: a prospective study

Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

Filamin a, periventricular nodular heterotopia, and West syndrome.

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

Functional copper transport explains neurologic sparing in occipital horn syndrome

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

Hereditary thyroglossal duct cysts

Hypogonadotrophic hypogonadism in Roifman syndrome

Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming

Identification of CANT1 mutations in Desbuquois dysplasia

Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Longitudinal studies of gene-environment interaction in common diseases--good value for money?

Longitudinal studies to detect gene×environment interactions in common disease – Bang for your buck? A commentary on Chaufan's “How much can a large population study on genes, environments, their interactions and common diseases contribute to th

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.

Maternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

Molecular pathology of filamin A: diverse phenotypes, many functions.

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Mutations in ECEL1 cause distal arthrogryposis type 5D

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Mutations in the netrin-1 gene cause congenital mirror movements

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.