| human | Q5 |
| P496 | ORCID iD | 0000-0002-6637-3411 |
| P1153 | Scopus author ID | 16506238900 |
| P735 | given name | Emma | Q541194 |
| Emma | Q541194 | ||
| P106 | occupation | researcher | Q1650915 |
| Q35836984 | A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations |
| Q37739888 | A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. |
| Q41928079 | A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome |
| Q41919076 | An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway |
| Q90950117 | An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia |
| Q114173097 | Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities |
| Q112577712 | Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency |
| Q92706401 | Delineating the expanding phenotype associated with SCAPER gene mutation |
| Q37322350 | Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. |
| Q92500676 | Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging |
| Q33808192 | Hypomorphic PCNA mutation underlies a human DNA repair disorder. |
| Q57915578 | Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting |
| Q34469835 | Loss of PCLO function underlies pontocerebellar hypoplasia type III |
| Q90168501 | MNS1 variant associated with situs inversus and male infertility |
| Q125467167 | Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes |
| Q34317903 | Mutation of HERC2 causes developmental delay with Angelman-like features. |
| Q36247698 | Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice |
| Q28975743 | Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures |
| Q36055767 | Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans |
| Q102215417 | No association between SCN9A and monogenic human epilepsy disorders |
| Q51593808 | Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. |
| Q39028575 | PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions |
| Q43209325 | PCNA mutation affects DNA repair not replication. |
| Q32884505 | PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment |
| Q35880740 | Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. |
| Q50856170 | Single-base substitutions in the CHM promoter as a cause of choroideremia. |
| Q42322261 | The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination. |
| Q38697197 | Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. |
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