Rachel Slaugh
Washington University in St. Louis(US)Mallinckrodt (United States)(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor(2007)224 cited
- → GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease(1999)189 cited
- → Deletion Within Chromosome 22 is Common in Patients With Absent Pulmonary Valve Syndrome(1995)78 cited
- → Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations(2021)47 cited
- → A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.(1994)44 cited
- → Linkage of preaxial polydactyly type 2 to 7q36(1995)37 cited
- → De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy(2020)30 cited
- → Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs(2003)16 cited
- → De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features(2024)8 cited