Ingrid Cristian

Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome

Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś et al. · Journal of Medical Genetics · 2015 · 237 citations · Full text

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 122 citations · Full text

Genome Instability, Biallelic Mutations, Mrps34 Lead +8

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech et al. · Genetics in Medicine · 2019 · 73 citations · Full text

De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly

Yizhou Ye, Megan T. Cho, Kyle Retterer et al. · Molecular Case Studies · 2015 · 67 citations · Full text

Brain Development, Genetics, Molecular Genetics +18

Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Kevin E. Glinton, Anna Hurst, Kevin M. Bowling et al. · American Journal of Medical Genetics Part A · 2021 · 26 citations · Full text

Brain Development, Genetics, Motor Development +22