Publications
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Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72.
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Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature
Movement Disorders Clinical Practice . 10(4): 547-557. Number of citations: 1
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Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD.
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
CLINICAL GENETICS . 102(5): 434-437. Number of citations: 2
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Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder
AUTISM RESEARCH . 14(6): 1088-1100. Number of citations: 8