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American Journal of Medical Genetics. Part A|March 5, 2016
Further defining the phenotypic spectrum of B4GALT7 mutationsClaire G Salter, Justin H Davies, Rebecca J Moon, et al.Journal of Clinical Research in Pediatric Endocrinology|January 29, 2020
Heterozygous Insulin Receptor <i>(INSR)</i> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case SeriesAashish Sethi, Nicola Foulds, Sarah Ehtisham, et al.Developmental Medicine and Child Neurology|September 5, 2021
Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 2, risks of adverse outcome in common anomaliesAnthony R Hart, Chakra Vasudevan, Paul D Griffiths, et al.Scientific Reports|May 16, 2015
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1RNicola Foulds, Reuben J Pengelly, Simon R Hammans, et al.Developmental Medicine and Child Neurology|August 23, 2021
Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 1, experiences and recommendations for service designAnthony R Hart, Brigitte Vollmer, David Howe, et al.Journal of Medical Genetics|June 22, 2012
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasiaClaus Eric Ott, Hendrikje Hein, Silke Lohan, et al.European Journal of Human Genetics : EJHG|April 16, 2015
Association of mutations in FLNA with craniosynostosisNathalie Fennell, Nicola Foulds, Diana S Johnson, et al.European Journal of Human Genetics : EJHG|January 20, 2012
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyEva Klopocki, Christian Kähler, Nicola Foulds, et al.Neuromuscular Disorders : NMD|December 4, 2014
RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?Katharine M L Forrest, Nicola Foulds, John S Millar, et al.European Journal of Medical Genetics|January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variantsRebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.Pageof 6