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International Journal of Molecular Sciences|April 23, 2022
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic StudyEva González-Iglesias, Ana López-Vázquez, Susana Noval, et al.
American Journal of Medical Genetics. Part A|August 3, 2024
Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndromeMarc Ventayol-Guirado, Laura Torres, Victor Asensio-Landa, et al.
American Journal of Medical Genetics. Part A|June 28, 2020
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individualsAude-Annick Suter, Fernando Santos-Simarro, Pernille Mathiesen Toerring, et al.
American Journal of Medical Genetics. Part A|July 2, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotypeMarta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon, et al.
American Journal of Medical Genetics. Part A|December 11, 2020
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literatureSofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformationsJimena Barraza-García, Carlos Iván Rivera-Pedroza, Luis Salamanca, et al.
American Journal of Medical Genetics. Part A|October 29, 2022
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studiesLuis Francisco González Álvarez, Jair Tenorio-Castaño, Fernando A Poletta, et al.
Clinical Genetics|April 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further casesFrancisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, et al.
Clinical Genetics|August 10, 2019
MAGEL2-related disorders: A study and case seriesJameson Patak, James Gilfert, Melissa Byler, et al.
Frontiers in Genetics|August 16, 2021
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus SyndromeJulián Nevado, Cristina Bel-Fenellós, Ana Karen Sandoval-Talamantes, et al.
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