Muriel Holder‐Espinasse

机构：Guy's Hospital

发表论文 129 篇 · 总被引 5907 次 · h-index 43

代表论文

• The Phenotypic Continuum of ATP1A3 -Related Disorders (2022 · Neurology · 被引 70)
• A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome (2020 · Genetics in Medicine · 被引 70)
• ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service (2024 · Prenatal Diagnosis · 被引 24)
• Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase (2024 · The American Journal of Human Genetics · 被引 18)
• Tbx4 function during hindlimb development reveals a novel mechanism to explain the origins of proximal limb defects (2021 · Development · 被引 18)
• Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences (2024 · Frontiers in Genetics · 被引 8)