List of works - Jane Juusola

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

scientific article published on 15 April 2016

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

scientific article published on 3 May 2018

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

scientific article published on 16 May 2018

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

scholarly article by Wujood Khayat published in October 2018

An mRNA and DNA co-isolation method for forensic casework samples.

scientific article published in December 2004

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency

scientific article published on 24 September 2020

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

article

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

scientific article published in August 2017

Clinical application of whole-exome sequencing across clinical indications

scientific article

Clinical utility of exome sequencing in infantile heart failure

scientific article published on 17 September 2019

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

scientific article published on 2 February 2017

Congenital methemoglobinemia type II in a 5-year-old boy.

scientific article

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

scientific article published on 26 October 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

scientific article published on 13 April 2016

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

scientific article

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

scientific article published on 5 April 2016

De novo mutations in PURA are associated with hypotonia and developmental delay

scientific article

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

scientific article published on 15 October 2018

Evidence for 28 genetic disorders discovered by combining healthcare and research data

scientific article published on 14 October 2020

Genetic and environmental influences on spontaneous micronuclei frequencies in children and adults: a twin study

scientific article

Genetic counseling in industry settings: Opportunities in the era of precision health

scientific article published on 01 March 2018

Holoprosencephaly: A clinical genomics perspective

scientific article published on 11 May 2018

Increased Frequency of Micronuclei in Adults with a History of Childhood Sexual Abuse: A Discordant Monozygotic Twin Study ⬇️

scientific article published on January 30, 2013

Lessons from a pair of siblings with BPAN

scientific article published on 01 July 2016

Lessons from a pair of siblings with BPAN.

scientific article

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

scientific article published on 22 September 2017

Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification

scientific article published in August 2003

Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway

scientific article published on 22 January 2017

Multiplex mRNA profiling for the identification of body fluids

scientific article published in August 2005

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

scientific article published on August 2016

Mutations in ARID2 are associated with intellectual disabilities.

scientific article

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

scientific article published on 16 July 2015

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

scientific journal article

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

scientific article published on 7 December 2016

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

scientific article published on 3 June 2015

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

scientific journal article

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

scientific article published on 30 March 2016

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

scientific article published on 25 January 2019

Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation ⬇️

scientific article published on July 2, 2012

Recovery and stability of RNA in vaginal swabs and blood, semen, and saliva stains

scientific article published on 19 February 2008

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

scientific article published on 17 March 2016

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.

scientific article published on 20 July 2017

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

scientific article published on 19 May 2016

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

scientific article published on 11 August 2015

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

scientific article published in July 2017

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

scientific article published on 2 May 2016

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

scientific article published on 20 April 2017

mRNA profiling for body fluid identification by multiplex quantitative RT-PCR

scientific article published on 15 September 2007

List of works by Jane Juusola

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

An mRNA and DNA co-isolation method for forensic casework samples.

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Clinical application of whole-exome sequencing across clinical indications

Clinical utility of exome sequencing in infantile heart failure

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

Congenital methemoglobinemia type II in a 5-year-old boy.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

De novo mutations in PURA are associated with hypotonia and developmental delay

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Genetic and environmental influences on spontaneous micronuclei frequencies in children and adults: a twin study

Genetic counseling in industry settings: Opportunities in the era of precision health

Holoprosencephaly: A clinical genomics perspective

Increased Frequency of Micronuclei in Adults with a History of Childhood Sexual Abuse: A Discordant Monozygotic Twin Study ⬇️

Lessons from a pair of siblings with BPAN

Lessons from a pair of siblings with BPAN.

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification

Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway

Multiplex mRNA profiling for the identification of body fluids

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Mutations in ARID2 are associated with intellectual disabilities.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

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

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation ⬇️

Recovery and stability of RNA in vaginal swabs and blood, semen, and saliva stains

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

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

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

mRNA profiling for body fluid identification by multiplex quantitative RT-PCR