Дополнительная информация
Laura Southgate
47 лет
en
Обо мне
I am a Lecturer in Genetics at St George's, University of London. I am interested in identifying genes that cause rare diseases
Контакт
Статистика исследователя
0
Положительные оценки
596
Просмотры профиля
9
Загруженные публикации
2676
Достигните
3
Карты
Образование
PhD Genetics. University of London (King's College London), UK. 2003-2009
BSc Biological Sciences (Genetics). University of Leicester, UK. 1996-1999
Опыт
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.
Исследование
Увлекается
Исследователь еще не включен ни в какую карту
Отвеченные вопросы
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Медицинский работник еще не ответил ни на один вопрос
Публикации
- 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/