List of works - Nataliya Di Donato

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

scientific article published on 03 September 2015

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

scientific article published on 18 March 2015

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

scientific article published on 19 April 2018

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

scientific article published in Nature Communications

Baraitser-Winter Cerebrofrontofacial Syndrome

scientific article published on 20 November 2015

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

scientific article published on 01 October 2019

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

scientific article

Clinical phenotypes of MAGEL2 mutations and deletions

scientific article published on 25 March 2014

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

scientific article

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

scientific article published on 07 October 2020

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

scientific article published on 20 December 2016

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

scientific article published on 03 January 2019

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

scientific article published on 20 June 2019

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

scientific article published on 12 April 2012

Diagnostic value of partial exome sequencing in developmental disorders

scientific article published in PLoS ONE

Distinct phenotype of PHF6 deletions in females.

scientific article published on 28 December 2013

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

scientific article published on 05 August 2014

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

scientific article published on 26 October 2019

Further delineation of Malan syndrome

scientific article published on 25 June 2018

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

scientific article

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

scientific article published on 23 November 2015

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

scientific article

International consensus recommendations on the diagnostic work-up for malformations of cortical development

scientific article published on 07 September 2020

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function

scientific article published on 23 May 2014

Lissencephaly: Expanded imaging and clinical classification.

scientific article published on 25 April 2017

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

scientific article published on 20 July 2012

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

scientific article published on May 2015

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

scientific article published on 6 April 2015

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

scientific article published on 03 October 2019

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

scientific article published on 15 June 2016

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

scientific article published on 18 October 2016

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

scientific journal article

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

scientific article published on 3 February 2016

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

scientific journal article

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

scientific article published on 7 March 2016

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

scientific article published on 25 July 2017

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

scientific article published on 18 December 2018

Novel truncating PPM1D mutation in a patient with intellectual disability

scientific article published on 11 May 2018

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

Parental mosaicism in epilepsies due to alleged de novo variants

scientific article published on 11 May 2019

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

scientific article

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Pierpont syndrome: report of a new patient.

scientific article published on 30 May 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

scientific article

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

scientific article published on 19 September 2016

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

scientific article published on 26 March 2014

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

scientific article

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability

scientific article

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

scientific article

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

scientific article published on 11 September 2015

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

scientific article published on 12 August 2020

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

scientific article published on 30 April 2018

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

scientific article published on 30 May 2016

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

scientific article

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

scientific article published in Nature Communications

List of works by Nataliya Di Donato

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Baraitser-Winter Cerebrofrontofacial Syndrome

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Clinical phenotypes of MAGEL2 mutations and deletions

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

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

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Diagnostic value of partial exome sequencing in developmental disorders

Distinct phenotype of PHF6 deletions in females.

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Further delineation of Malan syndrome

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function

Lissencephaly: Expanded imaging and clinical classification.

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

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

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

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

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Novel truncating PPM1D mutation in a patient with intellectual disability

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Parental mosaicism in epilepsies due to alleged de novo variants

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Pierpont syndrome: report of a new patient.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia