A. Ruiz-Herrera

Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations

A. González-del Angel, P. Pérez-Vera, C. Salas-Labadía, 2019, Orphanet Journal of Rare Diseases.

Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases

A. Becerra, Guadalupe Vargas-Ramírez, M. A. Alcántara-Ortigoza, 2017, Neuropediatrics.

Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review

A. Martinez-Hernandez, P. Pérez-Vera, C. Salas-Labadía, 2022, BMC Medical Genomics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization

J. Castrillo, V. Del Castillo-Ruiz, E. Yokoyama-Rebollar, 2015, Molecular Cytogenetics.

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions

A. Bertoli-Avella, A. Rolfs, C. Beetz, 2023, Movement disorders : official journal of the Movement Disorder Society.

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization

J. Castrillo, V. Del Castillo-Ruiz, E. Yokoyama-Rebollar, 2015, Molecular Cytogenetics.