세부
Laura Southgate
47 연령
en
나에 대해서
I am a Lecturer in Genetics at St George's, University of London. I am interested in identifying genes that cause rare diseases
접촉
연구원 통계
교육
PhD Genetics. University of London (King's College London), UK. 2003-2009
BSc Biological Sciences (Genetics). University of Leicester, UK. 1996-1999
경험
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.
관심있는
이 연구원은 아직 어떤지도에도 없습니다.
답변 된 질문
-
이 건강 관리 전문가는 아직 어떤 질문에도 대답하지 않았습니다.
간행물
- 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/