J. Tenorio-Castaño

发表

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

S. Graf, C. Welch, C. Eichstaedt, 2022, medRxiv.

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

P. Lapunzina, J. Nevado, F. Garcia-Gonzalo, 2022, American journal of human genetics.

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature

P. Lapunzina, P. Escribano-Subías, P. Arias, 2022, Genes.

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

P. Escribano-Subías, A. Moreno-Galdó, M. J. Marín, 2022, International journal of molecular sciences.

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease

P. Lapunzina, N. Gallego, D. Valverde, 2021, Cells.

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension

P. Lapunzina, J. Nevado, N. Gallego, 2021, Cells.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Á. Carracedo, L. Pérez-Jurado, P. Lapunzina, 2021, Genes.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

M. Esteller, P. Lapunzina, A. Verma, 2022, Clinical epigenetics.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

P. Lapunzina, J. Nevado, N. Gallego, 2022, Cancers.

M. Esteller, P. Lapunzina, B. H. Mele, 2022, Clinical Epigenetics.

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

S. Gräf, R. Trembath, N. Morrell, 2022, European Respiratory Journal.

Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension

P. Lapunzina, J. Nevado, S. Agarwal, 2021, Frontiers in Medicine.

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

S. Mundlos, P. Lapunzina, F. Santos-Simarro, 2022, American journal of medical genetics. Part A.

The role of genetics in pulmonary arterial hypertension associated with congenital heart disease.

N. Gallego, T. Segura de la Cal, P. Escribano Subías, 2021, Revista Española de Cardiología.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

A. Afenjar, P. Lapunzina, J. Nevado, 2023, Genes.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

A. Bayat, P. Lapunzina, F. Santos-Simarro, 2021, Clinical genetics.

Adult experiences in Beckwith–Wiedemann syndrome

P. Lapunzina, J. Nevado, J. Kalish, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency

P. Lapunzina, J. Nevado, N. Gallego, 2023, Clinical genetics.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.

[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].

R. Trembath, F. Soubrier, C. Eichstaedt, 2023, Revue des maladies respiratoires.

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Clinical genetics.

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

P. Lapunzina, P. Escribano-Subías, P. Arias, 2023, Genes.

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

P. Lapunzina, J. Nevado, R. Mena, 2023, Genes.

Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension.

P. Lapunzina, D. Valverde, P. Escribano-Subías, 2022, Revista espanola de cardiologia.