List of works - A. Micheil Innes

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting

scientific article published on 06 February 2019

A diagnostic approach to syndromic retinal dystrophies with intellectual disability

scientific article published on 11 September 2020

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

scientific article published in November 2010

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

scientific article published on 01 January 2005

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

scientific article published on 27 September 2016

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

scientific article published in June 2010

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

scientific article published on 16 September 2015

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

scientific article

A rational approach to the child with mental retardation for the paediatrician

scientific article published on July 2003

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

scientific article published in November 2006

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

scientific article published on 24 October 2020

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier

scientific article published on 01 April 2008

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published on 02 May 2019

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

scientific article

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

scientific article published on 22 March 2011

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

scientific article

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

scientific article published on 08 January 2019

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

scientific article published on May 2003

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum

scientific article published on 09 December 2020

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

scientific article

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

scientific article published on 01 March 2019

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

scientific article published on 01 December 2018

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

scientific article

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

scientific article

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

scientific article published on 07 October 2020

Congenital rickets caused by maternal vitamin D deficiency

scientific article published on September 2002

Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.

scientific article published on January 2016

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

scientific article published on 3 August 2016

Correction: The value of diagnostic testing for parents of children with rare genetic diseases

scientific article published on 01 November 2019

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

scientific article published on 01 March 2008

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

scientific article

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

scientific article published on 19 December 2013

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

scientific article published on 05 July 2019

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

scientific article published on 19 January 2016

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

scientific article

Epilepsy in Aicardi-Goutières syndrome

scientific article published on 5 September 2013

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

scientific article

Expansion of phenotype and genotypic data in CRB2-related syndrome

scientific article

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

scientific article published on 28 August 2015

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

scientific article

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

scientific article

G protein-coupled receptor-dependent development of human frontal cortex

scientific article

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

scientific article

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

scientific article

Genetic landmarks through philately--Henry Louis 'Lou' Gehrig and amyotrophic lateral sclerosis.

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening Program

article

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

scientific article published on 01 May 2022

Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy

scientific article published on 11 January 2013

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

scientific article published on 9 November 2012

Intellectual disability associated with a homozygous missense mutation in THOC6

scientific article

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

scientific article published on 01 September 1999

Intracerebral hemorrhage in a young man

scientific article published on 30 August 2010

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders

scientific article published on 23 September 2018

Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

scientific article published on September 2010

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

scientific article

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

scientific article published in August 2007

Molecular genetic testing and genetic counseling

scientific article published on 01 January 2008

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

scientific article

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

scientific article

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

scientific article

Mutations in PIK3R1 cause SHORT syndrome

scientific article published on 27 June 2013

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

scientific article published on 28 May 2009

Optimizing genotype quality metrics for individual exomes and cohort analysis

scientific article published in October 2012

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.

scientific article published on 21 December 2006

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment

scientific article published on 13 April 2017

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

scientific article published on 14 June 2018

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

scientific article

Primary brain calcification: an international study reporting novel variants and associated phenotypes

scientific article published on 28 June 2018

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

scientific article published on 18 November 2015

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

scientific article published on 03 July 2013

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

scientific article

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

scientific article

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

scientific article published on 06 November 2020

Some perinatal characteristics of monozygotic twins who are dichorionic

scientific article published on 01 January 1995

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

scientific article published on 01 March 2021

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

scientific article

The Role of PIEZO2 in Human Mechanosensation

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved

scientific article published on 24 September 2013

The value of diagnostic testing for parents of children with rare genetic diseases

scientific article published on 26 June 2019

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

scientific article

Unique disease heritage of the Dutch-German Mennonite population.

scientific article published in April 2008

Unsolved recognizable patterns of human malformation: Challenges and opportunities

scientific article published on 01 December 2018

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

scientific article published in July 2017

X-chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets

scientific article published on 01 January 1996

is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

article

List of works by A. Micheil Innes

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting

A diagnostic approach to syndromic retinal dystrophies with intellectual disability

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

A rational approach to the child with mental retardation for the paediatrician

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

Congenital rickets caused by maternal vitamin D deficiency

Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

Correction: The value of diagnostic testing for parents of children with rare genetic diseases

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Epilepsy in Aicardi-Goutières syndrome

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

Expansion of phenotype and genotypic data in CRB2-related syndrome

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

G protein-coupled receptor-dependent development of human frontal cortex

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Genetic landmarks through philately--Henry Louis 'Lou' Gehrig and amyotrophic lateral sclerosis.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening Program

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Intellectual disability associated with a homozygous missense mutation in THOC6

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

Intracerebral hemorrhage in a young man

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders

Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Molecular genetic testing and genetic counseling

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

Mutations in PIK3R1 cause SHORT syndrome

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

Optimizing genotype quality metrics for individual exomes and cohort analysis

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment