List of works - Yline Capri

<i>DST</i> Variants are Responsible for Neurogenic Arthrogryposis Multiplex Congenita Confirming the Large Clinical Spectrum of Type VI Hereditary Sensory Autonomic Neuropathy

scientific article published on 04 May 2022

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

scientific article published on 19 January 2013

A familial syndromal form of omphalocele

scientific article published on 17 February 2011

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

A new lysosomal storage disorder resembling Morquio syndrome in sibs

scientific article published on 25 January 2012

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

scientific article published on 27 February 2016

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

scientific article published on 23 May 2019

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene ⬇️

scientific article published on November 14, 2012

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome ⬇️

scientific article published on August 5, 2013

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review

scientific article published on 2 April 2015

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

scientific article published on 17 July 2020

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 01 July 2019

Deciphering the natural history of SCA7 in children

scientific article published on 17 June 2020

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

scientific article published on 30 September 2018

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

scientific article

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

scientific article published on 22 October 2019

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

scientific article published on 12 November 2013

Early-onset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling

scientific article published on 17 June 2020

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

scientific article published on 13 July 2018

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

scientific article published on 30 July 2020

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

scientific article

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder ⬇️

journal article from 'The American Journal of Human Genetics' published in 2021

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

scientific article published on 04 December 2020

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

scientific article

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

scientific article published on 16 February 2018

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations

scientific article published on 7 July 2015

LEF1 haploinsufficiency causes ectodermal dysplasia

scientific article published on 17 February 2020

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

scientific article published in June 2017

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

scientific article published on 29 September 2015

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 CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

scientific article

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

scientific article published on 16 July 2020

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication

scientific article published on 20 July 2012

Neurological outcome in WDR62 primary microcephaly

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

scientific article

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak Syndrome

scientific article published on 20 July 2020

Oligo-astrocytoma in LZTR1-related Noonan syndrome

scientific article published on 19 January 2019

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

scientific article published on 27 February 2020

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

scientific article published on 31 March 2020

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

scientific article published on 02 January 2020

Prenatal phenotype of congenital hyperparathyroidism ⬇️

scientific article published on June 5, 2012

Pseudoaminopterin syndrome

scientific article published on 18 July 2012

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

scientific article published on 25 June 2019

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation

scientific article published on May 2013

Response to Hall et al

scientific article published on 01 December 2020

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

scientific article published on 08 June 2018

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

The mutation spectrum in RECQL4 diseases

scientific article

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 25 October 2018

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

scientific article published in 2021

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019

List of works by Yline Capri

<i>DST</i> Variants are Responsible for Neurogenic Arthrogryposis Multiplex Congenita Confirming the Large Clinical Spectrum of Type VI Hereditary Sensory Autonomic Neuropathy

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

A familial syndromal form of omphalocele

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

A new lysosomal storage disorder resembling Morquio syndrome in sibs

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene ⬇️

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome ⬇️

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Deciphering the natural history of SCA7 in children

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

Early-onset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder ⬇️

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations

LEF1 haploinsufficiency causes ectodermal dysplasia

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

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

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication

Neurological outcome in WDR62 primary microcephaly

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak Syndrome

Oligo-astrocytoma in LZTR1-related Noonan syndrome

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

Prenatal phenotype of congenital hyperparathyroidism ⬇️

Pseudoaminopterin syndrome

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation

Response to Hall et al

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

The mutation spectrum in RECQL4 diseases

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders