List of works - Paul Kuentz

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

scientific article

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

scientific article published on 03 June 2016

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 March 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 November 2019

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

scientific article published on 22 April 2016

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

scientific article published on 22 January 2020

Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple.

scientific article published on 7 May 2011

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

scientific article published on 29 April 2019

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

scientific article

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

scientific article published on 2 November 2017

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

scientific article published on 14 May 2020

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

scientific article published on 2 November 2016

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

scientific article published on 10 April 2020

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

scientific article published on 20 April 2016

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

scientific article

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

scientific article

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases

scientific article published on 26 June 2019

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

scientific article published on 21 October 2015

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

scientific article published on 10 December 2015

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

article

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.

scientific article

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis

scientific article

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

scientific article published on 02 June 2020

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

scientific article published on 28 October 2020

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

scientific article published on 18 January 2020

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

scientific article published on 7 December 2015

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

scientific article

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

scientific article

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis

scientific article published on 20 February 2019

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

scientific article published on 18 February 2020

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

scientific article published on 12 January 2018

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

scientific article published on 11 August 2017

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

scientific article published on 19 August 2019

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

scientific article published on 24 January 2017

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

scientific article published on 24 April 2019

Severe gynaecological involvement in Proteus Syndrome

scientific article published on 10 August 2018

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

scientific article published on 26 October 2018

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

scientific article published in 2024

List of works by Paul Kuentz

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

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

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Severe gynaecological involvement in Proteus Syndrome

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly