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Emma M. Wade · SciRah

Researcher profile · Semantic Scholar

Emma M. Wade

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Emma M. Wade — researcher profile on SciRah

h-index: 10
Works: 25
Citations: 283

Most-cited papers

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Emma M. Wade, P. Daniel, Z. Jenkins, A. McInerney-Leo +26 more
2016American Journal of Human Genetics65 citations Open access
Semantic Scholar
Human Mutation
Emma M. Wade, B. J. Halliday, Adam C. O'Neill, S. Robertson
202037 citations
Semantic Scholar
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Emma M. Wade, Z. Jenkins, P. Daniel, Tim Morgan +22 more
2017American Journal of Medical Genetics. Part A30 citations Open access
Semantic Scholar
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
S. Driver, M. R. Jackson, Konrad Klaus Richter, P. Tomlinson +5 more
2019European Journal of Human Genetics26 citations Open access
Semantic Scholar
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity
Steffi Daniel, Marian Renwick, Viet Q. Chau, Shyamtanu Datta +6 more
2020Journal of molecular medicine19 citations Open access
Semantic Scholar
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
A. Blakes, E. Gaul, W. Lam, N. Shannon +10 more
2020European Journal of Human Genetics18 citations Open access
Semantic Scholar
Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.
L. Porter, J. Urquhart, E. O'donoghue, A. Spencer +3 more
2011Investigative Ophthalmology and Visual Science15 citations
Semantic Scholar
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis
Jingyi Mi, Padmini Parthasarathy, B. J. Halliday, Tim Morgan +5 more
2020Genes11 citations Open access
Semantic Scholar
Frontometaphyseal dysplasia and keloid formation without FLNA mutations
H. Basart, A. L. van de Kar, L. Adès, T. Cho +7 more
2015American Journal of Medical Genetics. Part A11 citations Open access
Semantic Scholar
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Emma M. Wade, Padmini Parthasarathy, Jingyi Mi, Tim Morgan +3 more
2021European Journal of Human Genetics10 citations Open access
Semantic Scholar
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
L. Micale, S. Morlino, T. Biagini, A. Carbone +13 more
2020Biochimica et Biophysica Acta - Molecular Basis of Disease10 citations Open access
Semantic Scholar
Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia
Emma M. Wade, Z. Jenkins, Tim Morgan, Gregory Gimenez +6 more
2021American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development
C. Doganli, O. K. Thomsen, Daniel A. Baird, Y. Ali +18 more
2026PLoS Biology6 citations Open access
Semantic Scholar
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis
S. Morlino, A. Carbone, M. Ritelli, C. Fusco +11 more
2019Human Mutation6 citations Open access
Semantic Scholar
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
Kaya Fukushima, Padmini Parthasarathy, Emma M. Wade, Tim Morgan +3 more
2021Genes5 citations Open access
Semantic Scholar
Idiopathic juvenile osteoporosis—a polygenic disorder?
Emma M. Wade, Katie Mulholland, Ian Shaw, Tim Cundy +1 more
2024JBMR Plus3 citations Open access
Semantic Scholar
FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function
Emma M. Wade, E. Goodin, Yongqiang Wang, Tim Morgan +6 more
2023Bone Reports3 citations Open access
Semantic Scholar
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival
Emma M. Wade, Tim Morgan, G. Gimenez, Za Jenkins +5 more
2024American Journal of Medical Genetics. Part A1 citations Open access
Semantic Scholar
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Emma M. Wade, Padmini Parthasarathy, Jingyi Mi, Tim Morgan +3 more
2021European Journal of Human Genetics1 citations Open access
Semantic Scholar
Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice
E. C. Moody, Emma M. Wade, S. Mizumoto, Jeremy McCallum-Loudeac +1 more
2026JOR Spine0 citations Open access
Semantic Scholar
Knock-in of a filaminopathy variant into Flna causes transient alterations in skeletal development but not a progressive skeletal phenotype in mice
H. Gibson, E. Goodin, Tim Morgan, Za Jenkins +2 more
2026Scientific Reports0 citations Open access
Semantic Scholar
The hinge‐1 domain of Flna is not necessary for diverse physiological functions in mice
Emma M. Wade, E. Goodin, Tim Morgan, S. Pereira +4 more
2024European Journal of Clinical Investigation0 citations Open access
Semantic Scholar
TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development
C. Doganli, Daniel A. Baird, Y. Ali, O. K. Thomsen +17 more
2024bioRxiv0 citations Open access
Semantic Scholar
Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6
A. Blakes, E. Gaul, W. Lam, N. Shannon +10 more
20200 citations
Semantic Scholar
BMedSc(Hons) abstracts 2023 Various Authors Surveillance of endovascular abdominal aortic aneurysm repair with shear wave elastography
Caitlin E. Syme, Zoe Ashley, A. Kam, S. Johnson +15 more
0 citations
Semantic Scholar

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