Anna Sarukhanov

University of California, Los Angeles — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

7h-index304citations8works0.02yr avg
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Research Topics

Connective tissue disorders research(5), Fibroblast Growth Factor Research(3), Genetic and Kidney Cyst Diseases(2), Spine and Intervertebral Disc Pathology(1), Angiogenesis and VEGF in Cancer(1)

Publications8 total

<i>NRP1</i> haploinsufficiency predisposes to the development of Tetralogy of Fallot
American Journal of Medical Genetics Part A·2018· 7 citedOpen Access
Clinical and radiographic delineation of Bent Bone Dysplasia‐FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel‐shaped Phalanges
American Journal of Medical Genetics Part A·2016· 8 citedOpen Access
TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions
PLoS Genetics·2016· 51 citedOpen Access
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen
Human Molecular Genetics·2014· 67 citedOpen Access
Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders
American Journal of Medical Genetics Part A·2014· 7 citedOpen Access
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
The American Journal of Human Genetics·2013· 85 citedOpen Access
A novel skeletal disorder defines an intracellular role for FGFR2 during development
The FASEB Journal·2012
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
The American Journal of Human Genetics·2012· 79 citedOpen Access

Frequent Co-authors

Deborah Krakow(8), Daniel H. Cohn(4), Amy E. Merrill(4), Pavel Krejčı́(3), Ralph S. Lachman(3), William R. Wilcox(3), Iván Durán(3), Sulin Wu(2), David L. Rimoin(2), Brian Idoni(2), Karen M. Lyons(2), Margarita H. Ivanova(2), Céline Huber(1), Ashley S. Kim(1), Sabine Sigaudy(1), Valérie Serre(1), Geneviève Baujat(1), Kim‐Hanh Le Quan Sang(1), Arnold Münnich(1), Valérie Cormier‐Daire(1)