Muriel Holder‐Espinasse
Guy's Hospital(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders, Congenital limb and hand anomalies
Most-Cited Works
- → A new highly penetrant form of obesity due to deletions on chromosome 16p11.2(2010)557 cited
- → Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence(2009)434 cited
- → Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss(2011)307 cited
- → De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome(2012)280 cited
- → MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations(2009)220 cited
- → Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability(2011)202 cited
- → Pierre Robin Sequence: A series of 117 consecutive cases(2001)172 cited
- → 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients(2015)121 cited
- → Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia(2013)118 cited
- → Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A(2012)111 cited