Natalia Ordonez‐Herrera

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 85 citations · Full text

Life Sciences, Developmental Biology, Human Development +11

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Ricardo Moreno Traspas, Tze Shin Teoh, Pui‐Mun Wong et al. · Nature Genetics · 2022 · 28 citations · Full text

Medicine, Molecular Biology, Pediatrics +12

Biallelic <scp> <i>ZNFX1</i> </scp> variants are associated with a spectrum of immuno‐hematological abnormalities

Salem Alawbathani, Ana Westenberger, Natalia Ordonez‐Herrera et al. · Clinical Genetics · 2021 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17