Neelam Giri
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Indian pediatric hematologist/oncologist and physician-scientist
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(Suggest an Edit or Addition)According to Wikipedia, Neelam K. Giri is an Indian pediatric hematologist/oncologist and physician-scientist who researches bone marrow failure syndromes. She is a staff clinician in the clinical genetics branch at the National Cancer Institute.
Neelam Giri's Published Works
Published Works
- GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. (2014) (553)
- Cancer in dyskeratosis congenita. (2009) (422)
- TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (2008) (396)
- Comparative efficacy and distribution of lipid formulations of amphotericin B in experimental Candida albicans infection of the central nervous system. (2000) (330)
- Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. (2007) (326)
- Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study (2010) (293)
- Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. (2011) (249)
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita (2013) (211)
- Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up (2017) (202)
- Telomere length is associated with disease severity and declines with age in dyskeratosis congenita (2012) (190)
- Telomere shortening and loss of self-renewal in dyskeratosis congenita iPS cells (2011) (141)
- Endocrine abnormalities in patients with Fanconi anemia. (2007) (127)
- Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes (2010) (123)
- A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome (2013) (117)
- Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 (2014) (112)
- Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. (2013) (106)
- Genotype-phenotype associations in Fanconi anemia: A literature review. (2019) (99)
- Response to androgen therapy in patients with dyskeratosis congenita (2014) (85)
- Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. (2014) (79)
- Invasive aspergillosis in human immunodeficiency virus-infected children. (1997) (79)
- Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. (2010) (72)
- Endocrine disorders in Fanconi anemia: recommendations for screening and treatment. (2015) (71)
- Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation (2017) (69)
- Oral and dental phenotype of dyskeratosis congenita. (2008) (68)
- Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus (2013) (66)
- Erythrocyte adenosine deaminase: diagnostic value for Diamond‐Blackfan anaemia (2013) (63)
- Telomere length in inherited bone marrow failure syndromes (2014) (62)
- Dyskeratosis congenita: The first NIH clinical research workshop (2009) (61)
- Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review (2011) (57)
- Bone Marrow Transplantation for Infantile Malignant Osteopetrosis (1995) (44)
- Factors affecting hair regrowth after bone marrow transplantation. (1993) (44)
- Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes (2014) (41)
- Thinking of VACTERL‐H? Rule out Fanconi Anemia according to PHENOS (2016) (39)
- In vivo persistence of retrovirally transduced murine long-term repopulating cells is not limited by expression of foreign gene products in the fully or minimally myeloablated setting. (2001) (38)
- HEMATOPOIESIS AND STEM CELLS GATA 2 de fi ciency : a protean disorder of hematopoiesis , lymphatics , and immunity (2014) (37)
- Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. (2015) (36)
- Liposomal nystatin against experimental pulmonary aspergillosis in persistently neutropenic rabbits: efficacy, safety and non-compartmental pharmacokinetics. (1999) (33)
- Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders (2017) (33)
- Pradimicins: A novel class of broad-spectrum antifungal compounds (2005) (33)
- Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony‐stimulating factor (2007) (33)
- Understanding the evolving phenotype of vascular complications in telomere biology disorders (2018) (32)
- Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives (2017) (32)
- The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. (2012) (31)
- Anti-Müllerian hormone deficiency in females with Fanconi anemia. (2014) (31)
- Allogeneic bone marrow transplantation for children with acute lymphoblastic leukemia conditioned with busulfan, cyclophosphamide and melphalan. (1996) (30)
- Intensive Immunosuppression Therapy for Aplastic Anemia Associated with Dyskeratosis Congenita (2006) (30)
- Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. (2016) (27)
- The relationship between DNA methylation and telomere length in dyskeratosis congenita (2012) (26)
- Immune status of patients with inherited bone marrow failure syndromes (2015) (26)
- Failure of allogeneic bone marrow transplantation to benefit HIV infection (1992) (26)
- Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? (2012) (25)
- Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. (2018) (25)
- Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations (2016) (25)
- Successful pregnancy after total body irradiation and bone marrow transplantation for acute leukaemia. (1992) (24)
- Novel FANCI mutations in Fanconi anemia with VACTERL association (2015) (24)
- Research participant interest in primary, secondary and incidental genomic findings (2016) (23)
- Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes (2013) (22)
- Re‐equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction (2020) (22)
- Genetic analysis and clinical picture of severe congenital neutropenia in Israel (2015) (21)
- The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita (2016) (20)
- Long‐term complications following bone marrow transplantation in children (1993) (18)
- Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes (2013) (17)
- Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance (2020) (17)
- Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes. (2015) (17)
- Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. (2017) (16)
- Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita (2017) (16)
- Disease Progression and Clinical Outcomes in Telomere Biology Disorders. (2021) (15)
- Antifungal Activity of the Pradimicin Derivative BMS 181184 in the Treatment of Experimental Pulmonary Aspergillosis in Persistently Neutropenic Rabbits (1998) (14)
- Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. (2014) (14)
- Proliferative retinopathy as a complication of dyskeratosis congenita. (2009) (13)
- Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita (2011) (13)
- CNS manifestations in patients with telomere biology disorders (2019) (12)
- HLA non-identical T-cell-depleted bone marrow transplantation for primary immunodeficiency diseases. (1994) (12)
- The effects of SCF/G-CSF prestimulation on radiation sensitivity and engraftment in nonmyeloablated murine hosts. (2001) (11)
- Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A (2020) (11)
- Compartmental Pharmacokinetics and Tissue Drug Distribution of the Pradimicin Derivative BMS 181184 in Rabbits (1998) (11)
- All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative (2008) (10)
- Bone Mineral Density in Patients with Inherited Bone Marrow Failure Syndromes (2017) (9)
- Cancer in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort after 15 Years of Follow-up (2016) (9)
- Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes (2016) (9)
- Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder (2019) (8)
- Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia (2020) (8)
- Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. (2020) (8)
- Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants (2018) (8)
- Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure. (2017) (7)
- Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2). (2021) (6)
- RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family (2012) (6)
- Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes (2018) (6)
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort (2022) (5)
- Engraftment failure following bone marrow transplantation in children with thalassemia major using busulfan and cyclophosphamide conditioning. (1997) (5)
- Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita. (2012) (4)
- Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report (2008) (4)
- Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features (2022) (3)
- 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes (2019) (3)
- Correlation of Telomere Length in Blood, Buccal Cells, and Fibroblasts From Patients with Inherited Bone Marrow Failure Syndromes. (2009) (3)
- Differential diagnosis of bone marrow failure syndromes guided by machine learning. (2022) (3)
- The inherited bone marrow failure syndromes (2004) (3)
- Risk of cancer in heterozygous relatives of patients with Fanconi anemia. (2021) (3)
- Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions (2018) (3)
- The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients (2022) (2)
- Genotype-Phenotype Associations in Patients with Fanconi Anemia: National Cancer Institute Cohort (2020) (2)
- Head and neck cancer in Fanconi anemia and dyskeratosis congenita. (2012) (2)
- Gynaecological and reproductive health of women with telomere biology disorders (2021) (2)
- Cancer in Heterozygote Carriers of Fanconi Anemia Genes (2018) (2)
- TINF2 , a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. (2007) (1)
- Novel and Known Ribosomal Causes of Diamond-Blackfan Anemia Identified through Comprehensive Genomic Characterization (2016) (1)
- Comparative Efficacy and Distribution of Lipid Formulations of Amphotericin B in Experimental Candida albicans Infection of the Central Nervous System (1)
- Fertility and Pregnancy Outcomes in Females with Dyskeratosis Congenita (2014) (1)
- Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes (2019) (1)
- Very Short Telomeres Are Characteristic of Dyskeratosis Congenita and Not Other Inherited Bone Marrow Failure Syndromes (2008) (1)
- Bone marrow skeletal stem / progenitor cell defects in patients with dyskeratosis congenita and telomere biology disorders (2014) (1)
- Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita (2021) (1)
- Large Genomic Deletions in Shwachman-Diamond Syndrome (2018) (1)
- Pituitary abnormalities in patients with Fanconi anaemia (2016) (1)
- identifies patients with dyskeratosis congenita Very short telomere length by flow fluorescence in situ hybridization (2011) (1)
- Clinically Silent Carriers in Families with Myelodysplastic Syndrome Due to GATA2 Mutations (2012) (1)
- Prognostic Significance of Pulmonary Function Test Abnormalities in Patients with Dyskeratosis Congenita (2016) (1)
- Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes (2021) (1)
- De Novo RPS20 Mutations in Diamond Blackfan Anemia (2014) (1)
- Evaluating The Utility Of Telomere Length Measurement By Qpcr As a Diagnostic Test For Dyskeratosis Congenita (2013) (1)
- The HPV Status of Patients with Fanconi Anemia. (2012) (0)
- Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry (2013) (0)
- Central Nervous System Abnormalities in Dyskeratosis Congenita and Fanconi Anemia: Correlation with Clinical Phenotype and Aplastic Anemia. (2007) (0)
- Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes (2012) (0)
- Prospective Phase I/II Study of Eltrombopag for the Treatment of Bone Marrow Failure in Fanconi Anemia (2021) (0)
- Studies of Immune Function In the Inherited Bone Marrow Failure Syndromes. (2010) (0)
- Bone Marrow Fibrosis in Patients with Inherited Bone Marrow Failure Syndromes. (2009) (0)
- Functional Consequences Of RPS29 Germline Mutations In Diamond-Blackfan Anemia (2013) (0)
- Faculty Opinions recommendation of Post-hematopoietic stem cell transplant immunization practices in the Pediatric Blood and Marrow Transplant Consortium. (2010) (0)
- Mutations In TCAB1 Cause Dyskeratosis Congenita (2010) (0)
- Understanding the evolving phenotype of vascular complications in telomere biology disorders (2018) (0)
- Phase II Study of Eltrombopag in Subjects with Fanconi Anemia (2019) (0)
- Immunoglobulin and Lymphocyte Subset Abnormalities in Patients with Fanconi Anemia and Dyskeratosis Congenita. (2006) (0)
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita (2013) (0)
- 202 TINF2 mutations are associated with severe mucocutaneous disease in dyskeratosis congenita (2017) (0)
- Ophthalmic Manifestations of the Inherited Bone Marrow Failure Syndromes (2009) (0)
- Disease Progression and Outcomes in Patients with Telomere Biology Disorders (2020) (0)
- Faculty Opinions recommendation of Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. (2012) (0)
- Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19 (2022) (0)
- Significance of Bone Marrow Karyotype and Morphology in Patients with Inherited Bone Marrow Failure Syndromes (2011) (0)
- Stress Erythropoiesis and Genetic Regulation of Fetal Hemoglobin in Inherited Bone Marrow Failure Syndromes (2011) (0)
- Diagnosis of Fanconi Anemia in An Asymptomatic Adult with Mosaicism and a Molecular Explanation. (2009) (0)
- Serum alpha fetoprotein levels in Fanconi anaemia (2018) (0)
- Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles (2021) (0)
- The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort. (2008) (0)
- Fanconi anaemia: A syndrome with distinct subgroups (2022) (0)
- FANCA Variants in Exons 27-30 Are Associated with Solid Tumors in Fanconi Anemia (2021) (0)
- Cover Image, Volume 176A, Number 6, June 2018 (2018) (0)
- Avascular Necrosis and Minimal Trauma Bone Fractures in Patients with Dyskeratosis Congenita (2022) (0)
- Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation. (2006) (0)
- Germline Mutations in RTEL1 cause Dyskeratosis Congenita (2012) (0)
- Persistent Questions about the Treatment of Severe Aplastic Anemia in Children as Illustrated by Five Cases (2003) (0)
- Longitudinal Changes In Telomere Length In Patients with Dyskeratosis Congenita (2010) (0)
- EP1236: UNDERSTANDING LIVER DISEASE AND IT'S PROGRESSION IN DYSKERATOSIS CONGENITA AND RELATED TELOMERE BIOLOGY DISORDERS (2022) (0)
- OI0422 Oral leukoplakia in dyskeratosis congenita: associations between genotype and phenotype (2014) (0)
- NCI Fanconi’s Anemia Cohort: Hematology and Beyond. (2005) (0)
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