List of works - Pablo Lapunzina

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

scientific article published on 4 June 2016

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

scientific article published on 12 January 2017

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma ⬇️

scientific article published on February 1, 1998

A six-attribute classification of genetic mosaicism

scientific article published on 14 July 2020

A view on clinical genetics and genomics in Spain: of challenges and opportunities

scientific article published on 18 July 2016

Abnormal bone turnover in individuals with low serum alkaline phosphatase

scientific article published on 12 June 2018

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes ⬇️

scientific article published on September 17, 2012

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person ⬇️

scientific article published on August 10, 2011

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

scientific article published on 28 August 2015

Biomarkers in Vestibular Schwannoma-Associated Hearing Loss

scientific article published on 18 September 2019

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

scientific article published on 15 February 2018

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

scientific article published on 24 May 2016

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

scientific article published on 02 July 2018

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

scientific article published on 15 September 2020

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

scientific article

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

scientific article published on 2 August 2016

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option ⬇️

scientific article published on January 25, 2013

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression

scientific article published on 13 March 2020

Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients ⬇️

scientific article published on November 9, 2012

Constitutional mosaicism in RASA1 -related capillary malformation-arteriovenous malformation

scientific article published on 04 February 2019

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

scientific article published in November 2017

Diastrophic dysplasia diagnosed in a case published 100 years ago ⬇️

scientific article published on May 26, 1998

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory.

scientific article published on 11 December 2017

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

scientific article published on October 2014

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

scientific article published on 11 January 2017

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

scientific article published on 22 January 2018

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

scientific article

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

scientific article published on 30 July 2019

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

scientific article published on 23 January 2020

Further delineation of Malan syndrome

scientific article published on 25 June 2018

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

scientific article published on 04 November 2019

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

scientific article published on 26 August 2017

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

article

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

scientific article

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

scientific article published on 06 November 2019

Hypoglycaemia due to persistent hyperinsulinism in a patient with Sotos syndrome ⬇️

scientific article published on December 27, 2011

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

scientific article published on 13 September 2020

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

scientific article

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

scientific article published on 25 November 2019

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

article

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.

scientific article published on April 2017

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

scientific article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

Mutations in WNT1 cause different forms of bone fragility

scientific article

Neurosyphilis in an eight-year-old child: Usefulness of the SPECT study ⬇️

scientific article published on January 1, 1998

New microdeletion and microduplication syndromes: A comprehensive review.

scientific article published on March 2014

Nomenclature and definition in asymmetric regional body overgrowth.

scientific article published on 5 May 2017

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

P2X receptors up-regulate the cell-surface expression of the neuronal glycine transporter GlyT2.

scientific article published on 19 July 2017

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

scientific article published on 09 January 2019

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

scientific article published on 26 June 2018

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

scientific article published on 12 December 2017

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

scientific article published on 22 June 2017

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

scientific article published on 04 July 2019

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

scientific article published in Nature Communications

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

scientific article published on 19 March 2014

Research in two large pediatric residencies in Argentina ⬇️

scientific article published on July 1, 1998

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

scientific article published on 24 February 2016

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

article

Somatic activating mutations in cause generalized lymphatic anomaly

scientific article published on 27 December 2018

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

scientific article

TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes

scientific article published on 6 October 2016

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

scientific article published on 22 February 2018

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer ⬇️

scientific article published on July 1, 2011

The role of CDKN2A/B deletions in pediatric acute lymphoblastic leukemia.

scientific article published on October 2016

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

scientific article published on 06 March 2017

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

scientific article published on 03 May 2019

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

scientific article

[Genetic predisposition to childhood cancer]

scientific article published on 07 March 2017

[New mutations associated with Hirschsprung disease]

scientific article published on 23 January 2020

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

List of works by Pablo Lapunzina

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

A new overgrowth syndrome is due to mutations in RNF125.

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma ⬇️

A six-attribute classification of genetic mosaicism

A view on clinical genetics and genomics in Spain: of challenges and opportunities

Abnormal bone turnover in individuals with low serum alkaline phosphatase

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes ⬇️

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person ⬇️

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

Biomarkers in Vestibular Schwannoma-Associated Hearing Loss

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option ⬇️

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression

Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients ⬇️

Constitutional mosaicism in RASA1 -related capillary malformation-arteriovenous malformation

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Diastrophic dysplasia diagnosed in a case published 100 years ago ⬇️

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Further delineation of Malan syndrome

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Hypoglycaemia due to persistent hyperinsulinism in a patient with Sotos syndrome ⬇️

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Mutations in WNT1 cause different forms of bone fragility

Neurosyphilis in an eight-year-old child: Usefulness of the SPECT study ⬇️

New microdeletion and microduplication syndromes: A comprehensive review.

Nomenclature and definition in asymmetric regional body overgrowth.

Noncoding copy-number variations are associated with congenital limb malformation.

P2X receptors up-regulate the cell-surface expression of the neuronal glycine transporter GlyT2.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Research in two large pediatric residencies in Argentina ⬇️

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

Somatic activating mutations in cause generalized lymphatic anomaly

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

The Human Phenotype Ontology in 2024: phenotypes around the world

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer ⬇️

The role of CDKN2A/B deletions in pediatric acute lymphoblastic leukemia.

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

[Genetic predisposition to childhood cancer]

[New mutations associated with Hirschsprung disease]

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.