Bruce R. Korf
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American medical geneticist, academic
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Bruce R. Korfbiology Degrees
Biology
#2234
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#3574
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Genetics
#247
World Rank
#297
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Biology
Bruce R. Korf's Degrees
- PhD Genetics University of Alabama at Birmingham
Why Is Bruce R. Korf Influential?
(Suggest an Edit or Addition)According to Wikipedia, Bruce Richard Korf is a medical geneticist at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics , a professional organization.
Bruce R. Korf'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
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2013) (2235)
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics (2016) (1319)
- The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. (1997) (1193)
- Neurofibromatosis type 1 (2017) (685)
- PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (1999) (570)
- Neurofibromatosis Type 1 Revisited (2009) (566)
- Implementing genomic medicine in the clinic: the future is here (2013) (463)
- Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force (2002) (356)
- Neurofibromatosis type 1. (2009) (314)
- Malignancy in neurofibromatosis type 1. (2000) (293)
- Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. (2000) (227)
- Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. (1998) (215)
- Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas (2013) (215)
- Human Chromosome 7: DNA Sequence and Biology (2003) (208)
- Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (1998) (206)
- Global implementation of genomic medicine: We are not alone (2015) (183)
- American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing (2001) (175)
- Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. (1995) (171)
- The case for strategic international alliances to harness nutritional genomics for public and personal health† (2005) (170)
- Exploring concordance and discordance for return of incidental findings from clinical sequencing (2012) (163)
- Plexiform neurofibromas in NF1: toward biologic-based therapy. (2002) (163)
- Pathophysiology of Neurofibromatosis Type 1 (2006) (160)
- NF1 plexiform neurofibroma growth rate by volumetric MRI (2007) (160)
- Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders (2011) (159)
- Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria (2013) (153)
- Future health applications of genomics: priorities for communication, behavioral, and social sciences research. (2010) (151)
- Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (2021) (148)
- Connexin 26 studies in patients with sensorineural hearing loss. (2001) (143)
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation (2015) (142)
- Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. (2009) (135)
- Diagnostic outcome in children with multiple café au lait spots. (1992) (129)
- Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. (1999) (127)
- Impact of neurofibromatosis 1 on Quality of Life: A cross‐sectional study of 176 American cases (2006) (127)
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 (2017) (123)
- Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics (2014) (117)
- New approaches to molecular diagnosis. (2013) (117)
- Recommendations for the integration of genomics into clinical practice (2016) (115)
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. (2008) (107)
- Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study. (2015) (107)
- Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. (1995) (105)
- Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2 (2012) (105)
- Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma (2003) (105)
- Molecular diagnosis (2) (1995) (102)
- Deletion of the SLUG (SNAI2) gene results in human piebaldism (2003) (101)
- myc gene amplification and expression in primary human neuroblastoma. (1990) (101)
- NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. (2000) (100)
- Recommendations for imaging tumor response in neurofibromatosis clinical trials (2013) (96)
- Health Supervision for Children With Neurofibromatosis Type 1 (2019) (95)
- Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2018) (94)
- Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back (2010) (94)
- Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. (2014) (85)
- Optimizing biologically targeted clinical trials for neurofibromatosis (2013) (80)
- Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging. (2000) (78)
- Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1. (2005) (77)
- Diagnosis and management of neurofibromatosis type 1 (2001) (75)
- A syndrome of autosomal dominant alternating hemiplegia (1992) (74)
- The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1. (2014) (74)
- Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing (2002) (73)
- Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns. (2005) (73)
- Sirolimus for non‐progressive NF1‐associated plexiform neurofibromas: An NF clinical trials consortium phase II study (2014) (72)
- Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1 (2016) (71)
- Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas (2013) (69)
- Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2‐13.3 (SMA 5q) (1990) (68)
- Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. (1996) (67)
- Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines. (1985) (66)
- Consensus Recommendations to Accelerate Clinical Trials for Neurofibromatosis Type 2 (2009) (65)
- Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases (2004) (64)
- Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (2018) (60)
- Consistent cytogenetic aberrations in hepatoblastoma: A common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies? (1991) (60)
- Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 (2019) (60)
- Genetic testing in cardiovascular disease. (2007) (58)
- Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). (1997) (54)
- Deletion of the entire NF1 gene causing distinct manifestations in a family. (1997) (53)
- Amplification and rearrangement of DNA sequences from the chromosomal region 2p24 in human neuroblastomas. (1986) (53)
- How to know when physicians are ready for genomic medicine (2015) (51)
- Review Article : Clinical Features and Pathobiology of Neurofibromatosis 1 (2002) (51)
- Patterns of Seizures Observed in Association with Neurofibromatosis 1 (1993) (50)
- Bilateral lucency of the globus pallidus complicating methylmalonic acidemia (1986) (50)
- Multicenter, Prospective, Phase II and Biomarker Study of High-Dose Bevacizumab as Induction Therapy in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannoma. (2019) (50)
- Outline of a medical genetics curriculum for internal medicine residency training programs (2004) (49)
- Somatic mosaicism for deletion of the entire NF1 gene identified by FISH (1997) (49)
- Integration of genetics into clinical teaching in medical school education (2002) (49)
- Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals (1990) (48)
- Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases (2003) (48)
- Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific. (1996) (48)
- CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). (1995) (43)
- Stage III neuroblastoma over 1 year of age at diagnosis: improved survival with intensive multimodality therapy including multiple alkylating agents. (1993) (42)
- Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina. (2008) (42)
- Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. (1996) (41)
- Cutaneous neurofibromas (2018) (40)
- Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. (2007) (40)
- Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. (2003) (40)
- An Update on Neurofibromatosis Type 1-Associated Gliomas (2020) (40)
- Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study (2018) (38)
- Chapter 39 – Neurofibromatosis (2013) (38)
- Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness (1985) (37)
- A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults (2018) (37)
- Stage IV neuroblastoma in infants. Long‐term survival (1991) (37)
- Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions (1999) (36)
- Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a “hot spot” for mutation in the SALL1 gene (2001) (35)
- The All of Us Research Program: Data quality, utility, and diversity (2020) (34)
- Report of Banbury Summit meeting on training of physicians in medical genetics, October 20–22, 2004 (2005) (33)
- Limb anomalies in DiGeorge and CHARGE syndromes. (1997) (32)
- NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas (2002) (32)
- Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas. (2003) (32)
- PERFUSION PARAMETERS IN PREDICTING OUTCOMES OF MACHINE PRESERVED KIDNEYS (2004) (32)
- Developing a national collaborative study system for rare genetic diseases (2008) (31)
- NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas (2021) (30)
- Clinical features and pathobiology of neurofibromatosis 1. (2002) (30)
- Microsurgically-extracted metaphase chromosomes of the Indian muntjac examined with phase contrast and scanning electron microscopy. (1978) (30)
- Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study. (2020) (29)
- Clinical response to bevacizumab in schwannomatosis (2014) (29)
- Cutaneous neuro fi bromas Current clinical and pathologic issues (29)
- Cabozantinib for neurofibromatosis type 1–related plexiform neurofibromas: a phase 2 trial (2021) (28)
- Advances in Neurofibromatosis 2 (NF2): A Workshop Report (2000) (28)
- A Phase II Study of Continuous Oral mTOR Inhibitor Everolimus for Recurrent, Radiographic-Progressive Neurofibromatosis Type 1-Associated Pediatric Low-Grade Glioma: A Neurofibromatosis Clinical Trials Consortium Study. (2020) (28)
- The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway (2016) (28)
- MR imaging of abdominopelvic involvement in neurofibromatosis type 1: a review of 43 patients (2005) (27)
- Back to the future: Proceedings from the 2010 NF Conference (2011) (27)
- Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I (2016) (26)
- Human Genetics and Genomics (2006) (25)
- The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. (2019) (25)
- Genetic Literacy and Competency (2013) (25)
- Use of perfusion parameters in predicting outcomes of machine-preserved kidneys. (2004) (24)
- Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. (1987) (24)
- Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12–14, 2006 (2008) (24)
- Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1 (2019) (23)
- Discordant phenotype in monozygotic twins with Fryns syndrome. (2000) (23)
- Prenatal Whole-Genome Sequencing: Is the Quest to Know a Fetus’s Future Ethical? (2014) (22)
- Genetics and genomics education: The next generation (2011) (22)
- CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2017) (22)
- Paraneoplastic necrotizing myopathy: a rare disorder to be differentiated from polymyositis (1989) (22)
- Neurocutaneous syndromes: neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis. (1997) (21)
- Competencies for the physician medical geneticist in the 21st century (2011) (21)
- Molecular diagnosis (1). (1995) (21)
- Subsequent Neoplasms After a Primary Tumor in Individuals With Neurofibromatosis Type 1. (2019) (20)
- Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1 (2001) (20)
- Clinical relevance of small copy-number variants in chromosomal microarray clinical testing (2016) (20)
- Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome. (1993) (19)
- Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical? (2014) (19)
- Characterization and utilization of an international neurofibromatosis web-based, patient–entered registry: An observational study (2017) (19)
- Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer (2018) (19)
- Anaesthetic management of children with tuberous sclerosis (2002) (19)
- Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1 (2019) (19)
- Random arrangement of mitotic chromosomes in radial metaphases of the Indian muntjac. (1977) (18)
- Locomotor problems in infantile facioscapulohumeral muscular dystrophy. Retrospective study of 9 patients. (1991) (18)
- The diagnostic evaluation and multidisciplinary management of NF1 and NF2 (1997) (18)
- CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies (2014) (18)
- Rapid cloning of multiple amplified nucleotide sequences from human neuroblastoma cell lines by phenol emulsion competitive DNA reassociation. (1987) (18)
- Genetic Variation in the 3′ Untranslated Region of the Neurofibromatosis 1 Gene: Application to Unequal Allelic Expression (1998) (17)
- Epilepsy treatment patterns among patients with tuberous sclerosis complex (2016) (17)
- "Killian Syndrome", Pallister mosaic syndrome, or mosaic tetrasomy 12P? - an analysis. (1983) (17)
- Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries (2022) (17)
- Familial aggregation of small congenital nevomelanocytic nevi. (1985) (17)
- The Human Genome Project: implications for the practicing obstetrician. (1993) (17)
- Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. (2022) (17)
- Absence of true interchromosomal connectives in microsurgically isolated chromosomes. (1980) (16)
- Nature and Frequency of Genetic Disease (2013) (16)
- Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. (2010) (16)
- A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway (2019) (16)
- NFM-06. NF106: PHASE 2 TRIAL OF THE MEK INHIBITOR PD-0325901 IN ADOLESCENTS AND ADULTS WITH NF1-RELATED PLEXIFORM NEUROFIBROMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY (2018) (16)
- Current status and recommendations for biomarkers and biobanking in neurofibromatosis (2016) (16)
- Neurofibromin (NF1) genetic variant structure–function analyses using a full‐length mouse cDNA (2018) (16)
- Overview of Clinical Cytogenetics (2001) (15)
- Cancer Risk Assessment and the Genetic Counseling Process: Using Hereditary Breast and Ovarian Cancer as an Example (2008) (15)
- Mutation-Directed Therapeutics for Neurofibromatosis Type I (2020) (15)
- Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves. (2005) (14)
- Genetics in medical practice (2002) (14)
- Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies (2020) (13)
- Emery and Rimoin's Essential Medical Genetics (2013) (13)
- Creation of an international registry to support discovery in schwannomatosis (2017) (13)
- Use of Y chromosome specific probes to detect low level sex chromosome mosaicism (1986) (13)
- CORRIGENDUM: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics (2017) (13)
- A 21/21 tandem translocation with satellites on both long and short arms (1974) (12)
- Centromeres are arranged in clusters throughout the muntjac cell cycle. (1982) (11)
- Neurocutaneous Disorders in Children (2017) (11)
- Neurology of the newborn, 2nd Ed. J.J. Volpe, W.B. Saunders, Philadelphia, 1987, 715 pp., $65.00 (1988) (11)
- Genomic medicine: educational challenges (2013) (11)
- Genetics in medical practice: The need for ultimate makeover (2005) (11)
- The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach (2015) (11)
- Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. (1992) (11)
- T antigen banding on chromosomes of simian virus 40 infected muntjac cells. (1979) (10)
- Integration of genomics into medical practice. (2013) (10)
- Overview of Clinical Cytogenetics (2001) (10)
- Human Genetics: A Problem-Based Approach (2000) (10)
- Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). (1989) (10)
- Medical Genetics at a Glance (2002) (10)
- A state-based approach to genomics for rare disease and population screening (2020) (9)
- Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results (2021) (9)
- Clinical trial design for cutaneous neurofibromas (2018) (9)
- Affinity Purification of NF1 Protein–Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners (2019) (9)
- Challenges in global genomics education (2014) (9)
- De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2020) (9)
- Hypomagnesemia due to two novel TRPM6 mutations (2015) (9)
- Advances in molecular diagnosis. (1996) (9)
- Overview of Molecular Genetic Diagnosis (2003) (8)
- Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) (2021) (8)
- The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research (2021) (8)
- Statins, bone, and neurofibromatosis type 1 (2008) (8)
- Stage IV neuroblastoma in infants. Long-term survival. (1991) (8)
- Phase II study of the mTOR inhibitor sirolimus for nonprogressive NF1-associated plexiform neurofibromas: A Neurofibromatosis Consortium study. (2010) (8)
- Complex familial rearrangement of chromosome 9p24.3 detected by FISH. (1998) (8)
- ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency (1996) (8)
- Comparison of family health history in surveys vs electronic health record data mapped to the observational medical outcomes partnership data model in the All of Us Research Program (2021) (8)
- Optimum pH for nuclear sex identification using quinacrine (1975) (8)
- Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type 1 (2012) (7)
- Genotype-phenotype correlations in spinal NF (2007) (7)
- Genetic testing for patients with renal disease: procedures, pitfalls, and ethical considerations. (1999) (7)
- Medical education in the ‘postgenomic era’ (2000) (7)
- Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames (2014) (7)
- Chapter 5 – Genetic Testing Techniques (2018) (7)
- Ophthalmological issues in the neurofibromatoses. (1996) (7)
- Genome sequencing as a first-line diagnostic test for hospitalized infants. (2021) (7)
- Clinical Molecular Genetics (2001) (7)
- Review Article : Determination of End Points for Treatment of Neurofibromatosis 1 (2002) (7)
- Spinal neurofibromatosis and phenotypic heterogeneity in NF1 (2015) (7)
- Presymptomatic diagnosis. (1967) (6)
- First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics (2019) (6)
- Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer (2018) (6)
- Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls (2020) (6)
- Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals (2020) (6)
- Recruiting diversity where it exists: The Alabama Genomic Health Initiative (2020) (6)
- Overview of Genetic Diagnosis in Cancer (2007) (5)
- ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency. (1996) (5)
- The role of trypsin in the pre-treatment of chromosomes for giemsa banding (1976) (5)
- Novel DNA rearrangement phenomena associated with DNA amplification in human neuroblastomas and neuroblastoma cell lines. (1986) (5)
- Neurofibromatosis Clinical Trial Consortium (2018) (5)
- Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells (2019) (5)
- 17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one. (1995) (5)
- Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1‐associated optic pathway gliomas in children (2020) (5)
- Emerging approaches toward the treatment of neurofibromatoses (1999) (5)
- The phakomatoses. (2004) (5)
- The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery (2022) (5)
- Characterization of N-myc amplification in a human neuroblastoma cell line by clones isolated following the phenol emulsion reassociation technique and by hexagonal field gel electrophoresis (1991) (5)
- Galactose metabolism and reproductive history in women with type 1 neurofibromatosis. (1991) (5)
- Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1-associated optic pathway gliomas in children (2020) (4)
- The medical genetics residency milestones. (2014) (4)
- Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting (2022) (4)
- Genomic privacy in the information age. (2013) (4)
- Dynamic aspects of trypsin-Giemsa banding (1975) (4)
- Neuroimaging in children with neurofibromatosis type 1. (1993) (4)
- Genetic and genomic competency in medical practice. (2012) (4)
- Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I (2022) (4)
- Cytogenetic and immunologic studies in chickens with autoimmune thyroiditis. (1974) (4)
- Advances in Genetic Testing and Applications in Newborn Medicine (2008) (4)
- Genetics in medicine, 4th ed. J.S. Thompson, M.W. Thompson. Philadelphia, W.B. Saunders Co., 1986. 349 pp, $29.95 (1987) (4)
- NFB-17. MEK INHIBITOR BINIMETINIB SHOWS CLINICAL ACTIVITY IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1- ASSOCIATED PLEXIFORM NEUROFIBROMAS: A REPORT FROM PNOC AND THE NF CLINICAL TRIALS CONSORTIUM (2020) (4)
- Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics (2003) (4)
- Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine (2021) (4)
- Pitfalls in the interpretation of molecular diagnostic tests (1996) (4)
- Sirolimus for progressive neurofibromatosis type 1 – associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study (2015) (4)
- Evaluation of population‐level pharmacogenetic actionability in Alabama (2021) (4)
- Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation (2019) (4)
- The neurofibromatoses. What do we know about them? (1988) (3)
- Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study (2016) (3)
- Genetics training in the genomic era (2005) (3)
- Therapeutic Development in Neurofibromatosis (2019) (3)
- Genetics and the population. (1996) (3)
- Partial trisomy 21: A fifty‐year follow‐up visit (2015) (3)
- Establishing priorities in neurofibromatosis research: A workshop summary (2001) (3)
- ASHG Perspectives: A New Voice for ASHG (2018) (3)
- Pushing the envelope in genomics education (2015) (3)
- The phakomatoses. (2005) (3)
- Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2018) (3)
- Teaching and Training Medicine in Genomic Era (2016) (3)
- 35 – Chromosomes and Chromosomal Abnormalities (2017) (3)
- SEX-CHROMOSOME ABNORMALITIES IN HUSBANDS AND WIVES (1975) (3)
- Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. (2022) (3)
- NFM-01. NF105: A PHASE II PROSPECTIVE STUDY OF CABOZANTINIB (XL184) FOR PLEXIFORM NEUROFIBROMAS IN SUBJECTS WITH NEUROFIBROMATOSIS TYPE 1: A NEUROFIBROMATOSIS CLINICAL TRIAL CONSORTIUM (NFCTC) STUDY (2018) (3)
- Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014 (2017) (3)
- Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas. (2017) (3)
- The American Society of Human Genetics at 70: Looking to the Future of Scientific Publishing and The American Journal of Human Genetics (2019) (2)
- Advances in genetic diagnosis. (1993) (2)
- Case vignette: genetic secrets. (1992) (2)
- Overview of Molecular Genetic Diagnosis (2006) (2)
- Overview of Genetic Diagnosis in Cancer (1997) (2)
- Carney Complex Response (1999) (2)
- Introduction to Human Genetics (2009) (2)
- AsktheGeneticistSM: five years of online experience (2009) (2)
- Genetic testing and medical practice. (2001) (2)
- Genetics in Pediatric Medicine (2012) (2)
- Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop. (2000) (2)
- Integration of genetics into medical practice. (2004) (2)
- Genetics and medical practice: new approaches to “old” disorders (2002) (2)
- Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit (2019) (2)
- Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C (2021) (2)
- The hereditary dystonias: An emerging story with a twist (1998) (2)
- Reviewer Acknowledgment (2013) (2)
- Preliminary report of a multicenter, phase 2 study of bevacizumab in children and adults with neurofibromatosis 2 and progressive vestibular schwannomas: An NF Clinical Trials Consortium study. (2018) (2)
- A Neurogeneticist's Perspective (1992) (1)
- Medical and Neuro-Oncology (2010) (1)
- What Should Physician Assistants Know About Genetics and Genomics (2007) (1)
- Human Genome Project, Genomics, and Clinical Research (2012) (1)
- What's new in neurogenetics? Amish microcephaly. (2003) (1)
- Report of the National Neurofibromatosis Foundation (NNFF) Task Force on Treatment of Neurofibromatosis 1 (1997) (1)
- DNA-based detection of chromosome deletion and amplification: diagnostic and mechanistic significance. (1986) (1)
- Physiological Bioenergetics : Mitochondria from Bench to Bedside (2017) (1)
- A child with hyper-IgM syndrome and multiple endocrinopathies with mutations in signal transducer and activator 5B (STAT5B), phosphatidylinositol 3-kinase catalytic subunit delta (PIK3CD) and phosphatidylinositol 3-kinase regulatory subunit 1 (PIK3R1) (2017) (1)
- Describing human populations: An evolving picture in human genetics research. (2021) (1)
- Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (2018) (1)
- Reproducibility of cognitive endpoints in clinical trials (2019) (1)
- An international genomics health workforce education priorities assessment. (2022) (1)
- 3 The Pathogenesis of Neurofibromatosis 1 and Neurofibromatosis 2 (2005) (1)
- 161 – Approaches to Personalized Medicine in Pediatric Neurology (2017) (1)
- 74 The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma (2012) (1)
- Integration of genetics into medical practice: ethical, legal, and social perspective. (2000) (1)
- Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (2018) (1)
- RARE-19. MULTICENTER, PHASE 2 STUDY OF BEVACIZUMAB IN CHILDREN AND ADULTS WITH NEUROFIBROMATOSIS 2 AND PROGRESSIVE VESTIBULAR SCHWANNOMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY (2017) (1)
- Response to Townsend et al. (2013) (1)
- 45 – Phakomatoses and Allied Conditions (2017) (1)
- Chapter 16 – Introduction to Human Genetics∗ (2017) (1)
- Natural History of Plexiform Neurofibromas in NF1 (1999) (1)
- An evaluation of selumetinib for the treatment of neurofibromatosis type 1-associated symptomatic, inoperable plexiform neurofibromas (2021) (1)
- The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family. (2020) (1)
- Book Review Essentials of Medical Genomics By Stuart M. Brown, with contributions by Harry Ostrer and John G. Hay. 274 pp., illustrated. Hoboken, N.J., Wiley, 2002. $49.95. 0-471-21003-X (2003) (1)
- Abstract CT233: Treatment of neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN) with cabozantinib (XL184): A Neurofibromatosis Clinical Trials Consortium Phase II trial (2019) (1)
- Comprar Neurological Assessment of the Preterm and Fullterm Newborn Infant | Dorian J. Pritchard | 9781898683155 | Wiley (2007) (1)
- Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing (2022) (1)
- DECODING NF1 INTRAGENIC COPY-NUMBER CHANGES (2015) (1)
- Returning integrated genomic risk and clinical recommendations: the eMERGE study. (2023) (1)
- Proceedings of the 1998 Meeting of the Society for Pediatric Dermatology (0)
- NIMG-08. A MULTI-CENTER RADIOMICS-BASED MODEL TO DIFFERENTIATE BETWEEN NEUROFIBROMATOSIS TYPE 1-ASSOCIATED PLEXIFORM NEUROFIBROMAS AND MALIGNANT PERIPHERAL NERVE SHEATH TUMORS (2021) (0)
- Probing Mitotic Chromosome Structure and Arrangement Using Micromanipulation (1979) (0)
- Biochemical Genetics (2008) (0)
- NF Consortium Development Site: University of Alabama at Birmingham (2006) (0)
- eP370: SouthSeq: Genome sequencing for a diverse population of hospitalized infants (2022) (0)
- ACMG Genetics Review Course (2005) (0)
- The evolving role of clinical genetics in medicine. Commentary. (1994) (0)
- 14 Practical and Quality-of-Life Issues (2005) (0)
- Cancer Genetics (2008) (0)
- The Neurofibromatoses (2019) (0)
- Exon Skipping as a Therapeutic for Neurofibromatosis Type I (2021) (0)
- The genetics of neurological disorders, 3rd ed. By Michael Baraitser New York, Oxford University Press, 1997 Illustrated, $89.90 (1998) (0)
- Clinical Molecular Genetics (2006) (0)
- Rationale for haploinsufficiency correction therapy in neurofibromatosis type 1 (2022) (0)
- Biochemical genetics. Introduction. (2012) (0)
- 1 Introduction and History (2005) (0)
- "New" mechanisms of genetic disease. (1995) (0)
- Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis (2018) (0)
- 2 The Many Faces of Neurofibromatosis (2005) (0)
- Screening dei portatori (2009) (0)
- 8 Cognitive Function and Learning Disabilities in Neurofibromatosis 1 (2005) (0)
- 39 – Principles of Genetics (2012) (0)
- SouthSeq: genome sequencing as a frontline genetic test in the NICU (2021) (0)
- Overview of Molecular Genetic Diagnosis (2003) (0)
- Neurofibromin is essential to maintain metabolic function and sustain life in the adult mouse (2018) (0)
- What Are the Life Long Neurological Consequences of NF1 (1999) (0)
- Clinical Cytogenetics (2000) (0)
- Chapter 166 – The Neurofibromatoses (2003) (0)
- Comparison of a STIR- and T1-based radiomics model to differentiate between plexiform neurofibromas and malignant peripheral nerve sheath tumors in neurofibromatosis type 1 (NF1) (S17.010) (2023) (0)
- Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG's continuing journey to advance human genetics. (2023) (0)
- Clinical Molecular Genetics (2006) (0)
- Clinical Cytogenetics (2007) (0)
- Cancer Genetics (2010) (0)
- Clinical Cytogenetics (2008) (0)
- Multicenter, phase 2 study of bevacizumab in children and adults with neurofibromatosis 2 and progressive vestibular schwannomas: an NF Clinical Trials Consortium study (S23.004) (2018) (0)
- Clinical and mutational spectrum of the Legius syndrome (or NF1-Like syndrome) (2009) (0)
- CTNI-10. MAINTENANCE CHEMOTHERAPY USING BEVACIZUMAB FOR NEUROFIBROMATOSIS 2 PATIENTS WITH HEARING LOSS AND PROGRESSIVE VESTIBULAR SCHWANNOMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY (NF104) (2020) (0)
- Closing the loop: Editors' feedback on the ASHG readership survey. (2022) (0)
- Use of Antiepileptic Drugs among Patients with Tuberous Sclerosis Complex Related Epilepsy who Initiated an Oral mTOR Inhibitor (P6.277) (2018) (0)
- Education/CME Committee Report (1998) (0)
- Pediatrics in the era of genetic medicine. (1999) (0)
- Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk? (2023) (0)
- Genetics: Editorial overview (1997) (0)
- An interview on rare and genetic diseases with Dr Bruce Korf, Associate Dean for Genomic Medicine at the University of Alabama at Birmingham (2022) (0)
- NIMG-16. COMPARISON OF A STIR- AND T1-WEIGHTED-BASED RADIOMICS MODEL TO DIFFERENTIATE BETWEEN PLEXIFORM NEUROFIBROMAS AND MALIGNANT PERIPHERAL NERVE SHEATH TUMORS IN NEUROFIBROMATOSIS TYPE 1 (NF1) (2022) (0)
- Biochemical Genetics (2005) (0)
- NFM-09. PRELIMINARY REPORT OF A MULTICENTER, PHASE 2 STUDY OF BEVACIZUMAB IN CHILDREN AND ADULTS WITH NEUROFIBROMATOSIS 2 AND PROGRESSIVE VESTIBULAR SCHWANNOMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY (2018) (0)
- Cancer Genetics (2003) (0)
- eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative (2022) (0)
- Major Manifestations of NF 1 (2017) (0)
- Transitions in an Era of Disruptive Change (2018) (0)
- 10 Diagnosis and Overall Management of Neurofibromatosis 2 (2005) (0)
- Analysis of amplification and expression of “myc-family” protooncogenes in neuroblastomas (1989) (0)
- College News (2009) (0)
- Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls (2020) (0)
- A New Annual Feature of AJHG: Genomic Medicine Year in Review (2019) (0)
- Screening dei neonati (2009) (0)
- 13 Psychosocial Impact of Neurofibromatosis (2005) (0)
- Therapeutic Approaches for NF1 (2020) (0)
- Biochemical Genetics (2008) (0)
- Contents, Vol. 19, 1977 (1977) (0)
- Overview of Genetic Diagnosis in Cancer (1997) (0)
- CHAPTER 29 – Human Genome Project, Genomics, and Clinical Research (2007) (0)
- 15 Research About Neurofibromatosis (2005) (0)
- Dermatoglyphic patterns in newborns. (1973) (0)
- Response to Hannah-Shmouni and Stratakis (2018) (0)
- Reply (1987) (0)
- Developmental Genome Anatomy Project Breakpoint localization updates (2001) (0)
- Preface (2011) (0)
- Samuel A. Latt (1989) (0)
- INNV-04. A MULTI-INSTITUTIONAL CLINICAL AND MRI REPOSITORY OF NEUROFIBROMATOSIS TYPE 1-ASSOCIATED PERIPHERAL NERVE SHEATH TUMORS (2021) (0)
- RARE-04. IMPACT OF LIVE, VIRTUAL EDUCATIONAL SYMPOSIA ON PEDIATRIC NEURO-ONCOLOGIST, NEURO-ONCOLOGIST, AND NEUROSURGEON CONFIDENCE, KNOWLEDGE, AND INTENTION TO EMPLOY TARGETED MEDICAL THERAPIES FOR THEIR PATIENTS WITH NEUROFIBROMATOSIS TYPE 1 (2021) (0)
- ConsensusRecommendations for Current Treatments and Accelerating Clinical Trials for Patients With Neurofibromatosis Type 2 (2011) (0)
- Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (2018) (0)
- 7 Other Neural Tumors and Nervous System Abnormalities in Neurofibromatosis 1 (2005) (0)
- Clinical Molecular Genetics (2010) (0)
- Forensic Genetics (2000) (0)
- Natural History of Plexiform Neurofibromas in NF1. Addendum (2008) (0)
- 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care (2023) (0)
- Closing the loop: Editors' feedback on the ASHG readership survey (2022) (0)
- Cancer Genetics (2009) (0)
- Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas into Clinical Research. (2021) (0)
- Genetics in medicine: staying on top of the revolution (1998) (0)
- 2002 ANNUAL CLINICAL GENETICS MEETING (2001) (0)
- Are "Unidentified Bright Objects" Useful for Diagnosis of Pediatric NF1? (2000) (0)
- 6 Neurofibromas and Malignant Peripheral Nerve Sheath Tumors (MPNST) in Neurofibromatosis 1 (2005) (0)
- 11 Management of Particular Neurofibromatosis 2 Features (2005) (0)
- Prevention andcontrol ofneurofibromatosi s: Memorandumfromajoint WHO/NNFFmeeting* (1992) (0)
- Response to letter to the editor by Zenker— “Diagnosis of FS should not be made until PKS is ruled out” (2001) (0)
- Table of Contents, Volume 170A, Number 8, August 2016 (2016) (0)
- 4 Genetics and Genetic Counseling in Neurofibromatosis 1 and Neurofibromatosis 2 (2005) (0)
- Cabozantinib for neurofibromatosis type 1–related plexiform neurofibromas: a phase 2 trial (2021) (0)
- Recognizing those who deal with rare disease every day. (2021) (0)
- Biochemical Genetics (2006) (0)
- Detecting Mosaicism Aids Management of NF1, NF2 (2001) (0)
- Iconographies supplémentaires de l'article : Phenotypic variability among café-au-lait macules in neurofibromatosis type 1 (2013) (0)
- College News (2002) (0)
- Proceedings of the 1998 Meeting of the Society for Pediatric Dermatology (0)
- Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) (2008) (0)
- Everolimus for the Treatment of Renal Angiomyolipoma in Patients with Tuberous Sclerosis Complex Being Treated for Subependymal Giant Cell Astrocytoma (S45.001) (2012) (0)
- Bevacizumab for Vestibular Schwannomas in Neurofibromatosis 2 (2009) (0)
- TITLE : Natural History of Plexiform Neurofibromas in NF 1 PRINCIPAL INVESTIGATOR : (2009) (0)
- LB951 Establishing a roadmap for therapeutics development for cutaneous neurofibromas (2017) (0)
- Multicenter, prospective, phase 2 study of maintenance bevacizumab for children and adults with NF2-related schwannomatosis and progressive vestibular schwannoma. (2023) (0)
- RETROSPECIVE ANALYSIS OF PATIENTS WITH OVERLAPPING FEATURES OF TOWNES-BROCKS SYNDROME AND GOLDENHAR SYNDROME (1999) (0)
- Cancer Genetics (2006) (0)
- List of Contributors (2019) (0)
- Cancer Genetics (2010) (0)
- Basic genetics. (2004) (0)
- Genetics of man, 2nd ed. F.C. Fraser, J.J. Nora. Philadelphia, Lea & Febiger, 1986. 352 pp, $34.95 (1987) (0)
- Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis (2020) (0)
- The Risk and Clinical/Molecular Characteristics of Breast Cancer in Women with Neurofibromatosis Type 1 (2013) (0)
- 9 Other Features of Neurofibromatosis 1 (2005) (0)
- Genome sequencing as a first-line diagnostic test for hospitalized newborns (2021) (0)
- “New” mechanisms of genetic disease: Commentary (1995) (0)
- The Child With Neurofibromatosis 1 by (2005) (0)
- New genetics of hearing loss. (2000) (0)
- Subependymal Giant Cell Astrocytoma Treatment Patterns among Patients with Tuberous Sclerosis Complex (P3.283) (2016) (0)
- Subject Index Vol. 19, 1977 (1977) (0)
- eP425: Parental impact of genome sequencing during the neonatal period (2022) (0)
- P655: Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis (2023) (0)
- OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors (2022) (0)
- Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit (2019) (0)
- Genetic diseases and molecular genetics (2013) (0)
- Response to Hannah-Shmouni and Stratakis (2018) (0)
- Clinical Molecular Genetics (2009) (0)
- Genetic Influences on Ischemic Stroke (2000) (0)
- Biochemical Genetics (2010) (0)
- Empiric Treatment for Persistent Fever from Suspected Autoinflammatory Disease: Experience from an Undiagnosed Diseases Program. (2023) (0)
- Chapter 19 – Genetic Testing for Neurologic Disorders (2003) (0)
- P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative* (2023) (0)
- Biochemical Genetics (2007) (0)
- MEDICAL EDUCATION Genetic and Genomic Competency in Medical Practice (2012) (0)
- The UAB Center for Precision Animal Modeling (C-PAM) (2021) (0)
- Clinical manifestations of NF1 in African-Americans and Caucasians (2000) (0)
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