Pablo Lapunzina

Overview

Best Publications

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

  Frédéric Brioude;Jennifer M Kalish;Alessandro Mussa;Alison C Foster;Alison C Foster

  430
  Citations

• Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

  Ningwu Huang;Amit Vikram Pandey;Vishal Agrawal;William Reardon

  349
  Citations

• 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

  Elena Castro;Nuria Romero-Laorden;Angela del Pozo;Rebeca Lozano

  347
  Citations

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

  Franck Court;Chiharu Tayama;Valeria Romanelli;Alex Martin-Trujillo

  318
  Citations

• Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

  Pablo Lapunzina;Mona Aglan;Samia Temtamy;José A. Caparrós-Martín

  316
  Citations

• Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

  E.K. Bijlsma;A.C.J. Gijsbers;J.H.M. Schuurs-Hoeijmakers;A. van Haeringen

  315
  Citations

• Risk of tumorigenesis in overgrowth syndromes: a comprehensive review.

  Pablo Lapunzina

  303
  Citations

• Mutations in WNT1 Cause Different Forms of Bone Fragility

  Katharina Keupp;Filippo Beleggia;Hülya Kayserili;Aileen M. Barnes

  297
  Citations

• NOTCH2 mutations in Alagille syndrome

  Binita Maya Kamath;Robert C Bauer;Kathleen M Loomes;Grace Chao

  239
  Citations

• Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

  Victor L. Ruiz-Perez;W.J. Stuart Tompson;J. Helen Blair;Cecilia Espinoza-Valdez

  233
  Citations

• Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

  Víctor Martínez-Glez;Maria Valencia;Maria Valencia;José A. Caparrós-Martín;José A. Caparrós-Martín;Mona Aglan

  230
  Citations

• HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

  Karen W. Gripp;Angela E. Lin;Deborah L. Stabley;Linda Nicholson

  219
  Citations

• Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

  María Berdasco;Santiago Ropero;Fernando Setien;Mario F. Fraga

  219
  Citations

• Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

  Michaela Yuen;Sarah A. Sandaradura;James J. Dowling;James J. Dowling;Alla S. Kostyukova

  201
  Citations

• Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

  D. Beysen;J. Raes;B.P. Leroy;B.P. Leroy;A. Lucassen

  155
  Citations

• Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

  Tomoko Kobayashi;Yoko Aoki;Tetsuya Niihori;Hélène Cavé

  149
  Citations

• Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

  L. Audi;M. Fernández-Cancio;A. Carrascosa;P. Andaluz

  146
  Citations

• Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1

  Luis Alvarez;Paloma Jara;Elena Sánchez-Sabaté;Loreto Hierro

  131
  Citations

• New microdeletion and microduplication syndromes: a comprehensive review

  Julián Nevado;Rafaella Mergener;María Palomares-Bralo;Karen Regina Souza

  129
  Citations

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

  Brioude F;Kalish Jm;Mussa A;Foster Ac

  16
  Citations