詳細
Laura Southgate
47 年
en
私について
I am a Lecturer in Genetics at St George's, University of London. I am interested in identifying genes that cause rare diseases
接触
研究者の統計
教育
PhD Genetics. University of London (King's College London), UK. 2003-2009
BSc Biological Sciences (Genetics). University of Leicester, UK. 1996-1999
経験
I have over 20 years experience of working to identify genes for inherited human disorders. I am also interested in examining how identified mutations affect the function of the proteins produced by these faulty genes and how this might cause disease.
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質問に答えました
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出版物
- Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies - adams-oliver-syndrome - http://www.cell.com/ajhg/fulltext/S0002-9297(11)00154-6
- DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies - adams-oliver-syndrome - http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22795/abstract
- Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies - adams-oliver-syndrome - http://circgenetics.ahajournals.org/content/8/4/572.long
- Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome - adams-oliver-syndrome - http://www.cell.com/ajhg/fulltext/S0002-9297(15)00291-8
- Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects - pulmonary-hypertension - http://onlinelibrary.wiley.com/doi/10.1002/humu.22904/full
- Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort - adams-oliver-syndrome - https://www.ncbi.nlm.nih.gov/pubmed/29924900
- Current opinion in the molecular genetics of Adams-Oliver syndrome - adams-oliver-syndrome - https://doi.org/10.1080/21678707.2019.1559049
- Molecular genetic framework underlying pulmonary arterial hypertension - pulmonary-hypertension - https://www.ncbi.nlm.nih.gov/pubmed/31406341
- Identification of rare sequence variation underlying heritable pulmonary arterial hypertension - pulmonary-hypertension - https://www.ncbi.nlm.nih.gov/pubmed/29650961/