Christina Gurnett
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Philosophy Biology
Christina Gurnett's Degrees
- PhD Genetics University of California, San Francisco
- Doctorate Medicine University of California, San Francisco
Why Is Christina Gurnett Influential?
(Suggest an Edit or Addition)According to Wikipedia, Christina A. Gurnett is the A. Ernest and Jane G. Stein Professor of Neurology, the director of the Division of Pediatric and Developmental Neurology at Washington University in St. Louis, and the chief of Neurology at St. Louis Children's Hospital.
Christina Gurnett's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- DICER1 Mutations in Familial Pleuropulmonary Blastoma (2009) (610)
- Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet. (2004) (492)
- Direct binding of G-protein βλ complex to voltage-dependent calcium channels (1997) (453)
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies (2010) (444)
- Adolescent idiopathic scoliosis (2015) (350)
- Update on Clubfoot: Etiology and Treatment (2009) (290)
- Dual Function of the Voltage-Dependent Ca2+ Channel α2δ Subunit in Current Stimulation and Subunit Interaction (1996) (289)
- A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome (2009) (249)
- Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. (2012) (231)
- A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (2008) (204)
- Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. (2011) (189)
- Identification of Three Subunits of the High Affinity ω-Conotoxin MVIIC-sensitive Ca2+ Channel* (1996) (166)
- Dissection of Functional Domains of the Voltage-Dependent Ca2+ Channel α2δ Subunit (1997) (161)
- Subunit Heterogeneity in N-type Ca Channels (*) (1996) (150)
- Structural and functional diversity of voltage-activated calcium channels. (1996) (149)
- Mutations in prickle orthologs cause seizures in flies, mice, and humans. (2011) (143)
- Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. (2008) (134)
- BRAFV600E mutation is a negative prognosticator in pediatric ganglioglioma (2013) (129)
- Treatment of idiopathic clubfoot: an historical review. (2000) (129)
- Successful use of a biphasic waveform automated external defibrillator in a high-risk child. (2000) (116)
- Two novel point mutations in the long‐range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly (2007) (113)
- Expression and Subunit Interaction of Voltage-Dependent Ca2+ Channels in PC12 Cells (1996) (110)
- Direct binding of G-protein betagamma complex to voltage-dependent calcium channels. (1997) (106)
- Extracellular Interaction of the Voltage-dependent Ca2+ Channel α2δ and α1 Subunits* (1997) (105)
- Impact of congenital talipes equinovarus etiology on treatment outcomes (2008) (103)
- Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. (2014) (98)
- Subunit Stoichiometry of Human Muscle Chloride Channels (1997) (94)
- Dual function of the voltage-dependent Ca2+ channel alpha 2 delta subunit in current stimulation and subunit interaction. (1996) (86)
- Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (2010) (85)
- Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele. (2009) (84)
- Dissection of functional domains of the voltage-dependent Ca2+ channel alpha2delta subunit. (1997) (79)
- Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function (2011) (76)
- Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. (2011) (76)
- Novel genetic findings in an extended family pedigree with sleepwalking (2011) (76)
- Kinesin family member 6 (kif6) is necessary for spine development in zebrafish (2014) (74)
- Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. (2010) (74)
- Identification of Medically Actionable Secondary Findings in the 1000 Genomes (2015) (73)
- Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect. (2008) (73)
- Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to Chromosome 18 q (2009) (71)
- Novel SCN3A variants associated with focal epilepsy in children (2014) (70)
- Transmembrane Auxiliary Subunits of Voltage-dependent Ion Channels* (1996) (70)
- Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants (2020) (70)
- Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility (2011) (68)
- Absence of the Skeletal Muscle Sarcolemma Chloride Channel ClC-1 in Myotonic Mice (*) (1995) (64)
- Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. (2008) (59)
- HOXD10 M319K mutation in a family with isolated congenital vertical talus (2006) (58)
- A missense variant in SLC39A8 is associated with severe idiopathic scoliosis (2018) (58)
- A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. (2016) (56)
- Genetics of clubfoot. (2012) (54)
- Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy (2006) (50)
- Intramembrane charge movements and excitation– contraction coupling expressed by two-domain fragments of the Ca2+ channel (2001) (48)
- MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. (2013) (47)
- Extracellular interaction of the voltage-dependent Ca2+ channel alpha2delta and alpha1 subunits. (1997) (47)
- Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis (2014) (47)
- De novo mutations in SIK1 cause a spectrum of developmental epilepsies. (2015) (46)
- Skeletal Muscle Contractile Gene (TNNT3, MYH3, TPM2) Mutations Not Found in Vertical Talus or Clubfoot (2009) (43)
- Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (2011) (42)
- Vascular Abnormalities Correlate with Decreased Soft Tissue Volumes in Idiopathic Clubfoot (2011) (40)
- Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (2017) (39)
- Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect. (2012) (38)
- Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development (2018) (37)
- Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot (2009) (37)
- Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot (2011) (37)
- Magnetic Resonance Angiography in Clubfoot and Vertical Talus: A Feasibility Study (2009) (36)
- Soft-Tissue Abnormalities Associated with Treatment-Resistant and Treatment-Responsive Clubfoot: Findings of MRI Analysis. (2014) (35)
- New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation. (2007) (34)
- Analysis of Cerebrospinal Fluid Glial Fibrillary Acidic Protein after Seizures in Children (2003) (33)
- Skeletal Muscle Abnormalities and Genetic Factors Related to Vertical Talus (2011) (32)
- Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development (2012) (32)
- Deletions of 5′ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus (2016) (32)
- Pilocytic astrocytoma in a child with Noonan syndrome (2009) (30)
- Adolescent idiopathic scoliosis (2015) (27)
- Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene. (2013) (27)
- The genetics of isolated and syndromic clubfoot (2019) (25)
- De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants (2018) (24)
- Mutations in the Novel Protein PRRT2 Cause Infantile Convulsions with Paroxysmal Kinesigenic Dyskinesia (2012) (23)
- Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles (2015) (23)
- Rare variants in FBN 1 and FBN 2 are associated with severe adolescent idiopathic scoliosis (2014) (23)
- Evaluation of GPR50, hMel-1B, and ROR-&agr; Melatonin-related Receptors and the Etiology of Adolescent Idiopathic Scoliosis (2010) (23)
- Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation (2008) (22)
- Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36 (2000) (21)
- Genome‐wide meta‐analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci (2018) (21)
- Genome-wide association study identifies new disease loci for isolated clubfoot (2014) (21)
- Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11–q22.3 (2006) (20)
- Absence of HOXD10 Mutations in Idiopathic Clubfoot and Sporadic Vertical Talus (2007) (19)
- Variable hand and foot abnormalities in family with congenital vertical talus and CDMP‐1 gene mutation (2005) (18)
- Flexor Digitorum Accessorius Longus Muscle Is Associated With Familial Idiopathic Clubfoot (2005) (18)
- Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis? (2014) (18)
- Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation. (2020) (18)
- Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy. (2004) (17)
- Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle (2012) (16)
- Cellular and plasma proteomic determinants of COVID-19 and non-COVID-19 pulmonary diseases relative to healthy aging (2021) (15)
- Definitions and Classification of Epilepsy (2008) (15)
- Dissection of Functional Domains of the Voltage-Dependent Ca 2 1 Channel a 2 d Subunit (1997) (14)
- The cartilage matrisome in adolescent idiopathic scoliosis (2020) (14)
- Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (2019) (13)
- Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection (2014) (13)
- Massively parallel single-nucleotide mutagenesis using reversibly terminated inosine (2016) (13)
- Case Report (2008) (13)
- Design and descriptive data of the randomized Clubfoot Foot Abduction Brace Length of Treatment Study (FAB24) (2017) (13)
- Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish (2020) (12)
- MYH3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin (2020) (12)
- The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research (2017) (11)
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation. (2020) (11)
- Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype (2011) (11)
- Re: Ward K, Ogilvie JW, Singleton MV, et al. Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis. Spine 2010;35:E1455-64. (2011) (11)
- Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis (2017) (11)
- Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants (2021) (10)
- Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas (2018) (9)
- ATRAID regulates the action of nitrogen-containing bisphosphonates on bone (2020) (9)
- Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. (2015) (8)
- Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3 (2006) (8)
- Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature (2014) (8)
- Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation. (2005) (8)
- Obex position is associated with syringomyelia and use of posterior fossa decompression among patients with Chiari I malformation. (2020) (7)
- The cartilage matrisome in adolescent idiopathic scoliosis. (2020) (6)
- Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome (2021) (4)
- Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks (2020) (4)
- Diverse monogenic subforms of human spermatogenic failure (2022) (4)
- Genetic association and characterization of FSTL5 in isolated clubfoot. (2020) (4)
- Rare and de novo duplications containing SHOX in clubfoot (2020) (4)
- Supporting COVID-19 School Safety for Children With Disabilities and Medical Complexity. (2021) (4)
- Sex- and Mutation-Specific p53 Gain-of-Function Activity in Gliomagenesis (2021) (3)
- Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing (2021) (3)
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation. (2021) (3)
- A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis (2021) (3)
- ATRAID, a genetic factor that regulates the clinical action of nitrogen-containing bisphosphonates on bone (2018) (3)
- MET mutation causes muscular dysplasia and arthrogryposis (2019) (3)
- Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations (2021) (2)
- Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development (2023) (2)
- Magnetic Resonance Angiography in Clubfoot and Vertical Talus (2009) (2)
- SARS-CoV-2 Screening Testing in Schools for Children with Intellectual and Developmental Disabilities (2021) (2)
- Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion (2021) (2)
- Defining the phenotype to discover the genotype (2006) (2)
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation. (2021) (2)
- Norepinephrine release from guinea pig cardiac sympathetic nerves is insensitive to ryanodine under physiological conditions (1993) (2)
- Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders (2022) (2)
- Scoliosis severity does not impact the risk of scoliosis in family members (2017) (2)
- Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development (2023) (2)
- Jean Holowach Thurston, MD (1917–2017) (2017) (1)
- SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities (2021) (1)
- Diagnostic yield of exome sequencing in congenital vertical talus. (2022) (1)
- Overlay and Bead Assay (1998) (1)
- A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis (2022) (1)
- Are talipes equinovarus and congenital fibular dysplasia different manifestations of aberrant vasculogenesis ? (2009) (1)
- The Impact of Clonal Hematopoiesis on Cardiovascular Disease in People Living with HIV. (2022) (1)
- Overlay and bead assay. Determination of calcium channel subunit interaction domains. (1998) (1)
- Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle (2012) (0)
- An in vivo approach to characterize novel variants associated with musculoskeletal disorders (2021) (0)
- PITX1-Associated Congenital Lower Limb Malformations (2016) (0)
- Associated with Myelomeningocele Early Results of the Ponseti Method for the Treatment of Clubfoot (2009) (0)
- Understanding educators’ perspectives and experiences of COVID-19 in schools serving children with intellectual/developmental disabilities (2022) (0)
- Erratum: De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies (American Journal of Human Genetics (2015) 96(4) (682–690)) (2015) (0)
- Genetic association and characterization of FSTL 5 in isolated clubfoot 1 2 (2020) (0)
- Targeting Pathway Through Analysis Of Mutations In I-Cell Disease & Pseudo-Hurler Polydystrophy (2013) (0)
- Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development (2018) (0)
- p53 mutations exhibit sex specific gain-of-function activity in gliomagenesis (2021) (0)
- Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. (2023) (0)
- Title: Diverse Monogenic Subforms of Human Spermatogenic Failure (2022) (0)
- How E. Coli Battles Local Immunity In The Bladder (2013) (0)
- Genotype Analysis of Adolescents with Heavy Menstrual Bleeding and Low Von Willebrand Activity - Report of a Multi-Center Study (2020) (0)
- A missense variant in SLC39A8 is associated with severe idiopathic scoliosis (2018) (0)
- Myosin binding protein h dominates the "c-zone" in ultrafast swimming muscles of developing zebrafish. (2023) (0)
- Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk (2021) (0)
- Comprehensive multiomic profiling of somatic mutations in malformations of cortical development (2022) (0)
- 1872. Clusters of SARS-CoV-2 infection across six schools for children with intellectual and developmental disabilities (2022) (0)
- Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk (2021) (0)
- SYMPOSIUM: CLUBFOOT: ETIOLOGY AND TREATMENT Update on Clubfoot: Etiology and Treatment (2009) (0)
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