Anju Shukla

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Emmanuelle Szenker‐Ravi, Umut Altunoğlu, Marc Leushacke et al. · Nature · 2018 · 190 citations

Signal Transduction, Molecular Physiology, Developmental Biology +6

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore et al. · Translational Psychiatry · 2021 · 147 citations · Full text

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş et al. · The American Journal of Human Genetics · 2019 · 118 citations · Full text

Candidate Genes, Developmental Biology, Oligogenic Inheritance +9

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Andrea Delle Vedove, Markus Storbeck, Raoul Heller et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Physiology, Orthopaedic Surgery, Perinatal Respiratory Distress +1

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan et al. · The American Journal of Human Genetics · 2016 · 84 citations · Full text

Facial Dysmorphism, Genetic Disorder, Cause Intellectual Disability +5