Publications by authors named "Neelam Giri"

73Publications

Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.

EMBO J 2020 Nov 16;39(21):e103420. Epub 2020 Sep 16.

Biomedical Research Center, National Institute on Aging/National Institutes of Health, Baltimore, MD, USA.

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November 2020

CNS manifestations in patients with telomere biology disorders.

Neurol Genet 2019 Dec 29;5(6):370. Epub 2019 Oct 29.

Clinical Genetics Branch (S.B., N.G., B.P.A., S.A.S.) and Biostatistics Branch (A.F.B.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville; Office of the Clinical Director (M.P.), National Institute of Mental Health, National Institutes of Health, Bethesda, MD; Department of Neurology (A.G.), Children's National Medical Center, Washington, DC; and Department of Radiology and Imaging Sciences (E.H.B.), Clinical Center, National Institutes of Health, Bethesda, MD.

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December 2019

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20859, USA.

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December 2019

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.

ERJ Open Res 2019 Oct 15;5(4). Epub 2019 Nov 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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October 2019

Genotype-phenotype associations in Fanconi anemia: A literature review.

Blood Rev 2019 09 16;37:100589. Epub 2019 Jul 16.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20850, USA. Electronic address:

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September 2019

Serum alpha fetoprotein levels in Fanconi anaemia.

Br J Haematol 2019 03 20;184(6):1074-1076. Epub 2018 Aug 20.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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March 2019

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Blood Adv 2018 06;2(11):1243-1249

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD; and.

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June 2018

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Am J Med Genet A 2018 06 25;176(6):1432-1437. Epub 2018 Apr 25.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.

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June 2018

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Haematologica 2018 01 19;103(1):30-39. Epub 2017 Oct 19.

Biostatistics Branches, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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January 2018

Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita.

J Am Acad Dermatol 2018 04 16;78(4):804-806. Epub 2017 Oct 16.

Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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April 2018

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

J Am Acad Dermatol 2017 Dec 21;77(6):1194-1198. Epub 2017 Oct 21.

Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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December 2017

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort.

Blood 2017 10 24;130(14):1674-1676. Epub 2017 Aug 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, and.

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October 2017

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

Int J Mol Sci 2017 Aug 13;18(8). Epub 2017 Aug 13.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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August 2017

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.

Pediatr Blood Cancer 2018 Jan 12;65(1). Epub 2017 Aug 12.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.

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January 2018

Bone mineral density in patients with inherited bone marrow failure syndromes.

Pediatr Res 2017 Sep 31;82(3):458-464. Epub 2017 May 31.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

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September 2017

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.

Am J Hematol 2016 12 4;91(12):1215-1220. Epub 2016 Nov 4.

Molecular and Cellular Pharmacology Group, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.

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December 2016

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

Pediatr Blood Cancer 2016 12 18;63(12):2139-2145. Epub 2016 Jul 18.

National Cancer Institute, National Institutes of Health, Rockville, Maryland.

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December 2016

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

Mol Genet Genomic Med 2016 Jul 20;4(4):475-9. Epub 2016 Mar 20.

Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health 9609 Medical Center Drive Rockville Maryland 20850.

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July 2016

Research participant interest in primary, secondary, and incidental genomic findings.

Genet Med 2016 12 21;18(12):1218-1225. Epub 2016 Apr 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.

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December 2016

Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.

Am J Med Genet A 2016 06 30;170(6):1520-4. Epub 2016 Mar 30.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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June 2016

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Pediatr Neurol 2016 Mar 19;56:62-68.e1. Epub 2015 Dec 19.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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March 2016

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Am J Med Genet A 2016 Feb 21;170A(2):386-391. Epub 2015 Nov 21.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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February 2016

Pituitary abnormalities in patients with Fanconi anaemia.

Clin Endocrinol (Oxf) 2016 Feb 22;84(2):307-309. Epub 2015 Sep 22.

Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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February 2016

Immune status of patients with inherited bone marrow failure syndromes.

Am J Hematol 2015 Aug 28;90(8):702-8. Epub 2015 May 28.

Division of Infectious Diseases, Department of Medicine, Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland.

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August 2015

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.

J Clin Endocrinol Metab 2015 Mar 9;100(3):803-11. Epub 2015 Jan 9.

Division of Pediatric Endocrinology (A.P., B.N.), University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota 55454; Department of Pediatrics (R.K.S.), Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia 23229; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20850; Division of Endocrinology, Diabetes and Metabolism (A.N.H.), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215; Division of Endocrinology (M.M.R., S.R.R.), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229; Pediatric Endocrinology Inter-Institute Training Program (M.L.), National Institutes of Health, Bethesda, Maryland 20892; and Section on Endocrinology and Genetics (M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.

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March 2015

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.

J Clin Endocrinol Metab 2015 Feb 18;100(2):E197-203. Epub 2014 Nov 18.

Human Papillomavirus Immunology Laboratory (M.M.S., L.A.P.), Leidos Biomedical Research, Incorporated, Frederick National Laboratory for Cancer Research, Frederick, Maryland 21702; Program in Reproductive and Adult Endocrinology (P.S.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; and Clinical Genetics Branch (N.G., B.P.A., S.A.S.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20852.

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February 2015

Telomere length in inherited bone marrow failure syndromes.

Haematologica 2015 Jan 10;100(1):49-54. Epub 2014 Oct 10.

Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA.

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January 2015

Genetic analysis and clinical picture of severe congenital neutropenia in Israel.

Pediatr Blood Cancer 2015 Jan 4;62(1):103-8. Epub 2014 Oct 4.

Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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January 2015

Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.

Cytogenet Genome Res 2014 11;144(1):15-27. Epub 2014 Sep 11.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Md., USA.

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February 2015

Response to androgen therapy in patients with dyskeratosis congenita.

Br J Haematol 2014 May 12;165(3):349-57. Epub 2014 Feb 12.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA; Children's National Medical Center, Washington, DC, USA.

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May 2014

Anti-Müllerian hormone deficiency in females with Fanconi anemia.

J Clin Endocrinol Metab 2014 May 17;99(5):1608-14. Epub 2014 Jan 17.

Human Papillomavirus Immunology Laboratory (M.M.S., L.A.P.), Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, Maryland 21702; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892; and Program in Reproductive and Adult Endocrinology (P.S.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20814.

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May 2014

Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.

Vaccine 2014 Feb 2;32(10):1169-73. Epub 2013 Dec 2.

HPV Immunology Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.

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February 2014

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.

Br J Haematol 2013 Oct 25;163(1):81-92. Epub 2013 Jul 25.

Human Papillomavirus Immunology Laboratory, Science Applications International Corporation (SAIC)-Frederick, Incorporated, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

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October 2013

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Br J Haematol 2013 Aug 29;162(4):542-6. Epub 2013 May 29.

Clinical Genetics Branch, Division of Clinical Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DCEG/CGB Branch, 9609 Medical Center Dr, Rm 6E452, Bethesda, MD 20892, USA.

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August 2013

Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus.

Int J Cancer 2013 Sep 5;133(6):1513-5. Epub 2013 Apr 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20852, USA.

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September 2013

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

Hum Genet 2013 Apr 18;132(4):473-80. Epub 2013 Jan 18.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd. EPS 7018, Rockville, MD 20892, USA.

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April 2013

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Br J Haematol 2013 Feb 17;160(4):547-54. Epub 2012 Dec 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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February 2013

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

Psychosomatics 2012 May-Jun;53(3):230-5. Epub 2012 Mar 27.

Department of Psychiatry and Behavioral Sciences, Children's National Medical Center, Washington, DC, USA.

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July 2012

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.

Haematologica 2012 Mar 4;97(3):353-9. Epub 2011 Nov 4.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20852-7231, USA.

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March 2012

The relationship between DNA methylation and telomere length in dyskeratosis congenita.

Aging Cell 2012 Feb 15;11(1):24-8. Epub 2011 Nov 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA.

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February 2012

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.

BMC Blood Disord 2011 Jun 15;11. Epub 2011 Jun 15.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville 20852, MD, USA.

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June 2011

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

J Med Genet 2011 Apr 5;48(4):285-8. Epub 2011 Jan 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA.

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April 2011

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

Genes Dev 2011 Jan;25(1):11-6

Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA.

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January 2011

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.

Aging (Albany NY) 2010 Nov;2(11):867-74

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA.

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November 2010

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Br J Haematol 2010 Jul 30;150(2):179-88. Epub 2010 Apr 30.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852-7231, USA.

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July 2010

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Ophthalmology 2010 Mar 22;117(3):615-22. Epub 2009 Dec 22.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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March 2010

Proliferative retinopathy as a complication of dyskeratosis congenita.

Retin Cases Brief Rep 2009 ;3(3):259-62

From the *Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama; †Retina Consultants of Alabama, Birmingham, Alabama; the ‡Austin Retina Associates, Austin, Texas; the §Intramural Research Program of the National Eye Institute, Bethesda, Maryland; the ∥National Eye Institute, Health, Department of Health and Human Services, Bethesda, Maryland; and the ¶Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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November 2014

Dyskeratosis congenita: the first NIH clinical research workshop.

Pediatr Blood Cancer 2009 Sep;53(3):520-3

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA.

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September 2009

Cancer in dyskeratosis congenita.

Blood 2009 Jun 12;113(26):6549-57. Epub 2009 Mar 12.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DHHS, 6120 Executive Blvd, Executive Plaza South, Rockville, MD 20852-7231, USA.

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June 2009

All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative.

Am J Med Genet A 2008 Nov;146A(21):2719-24

Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.

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November 2008

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Am J Hum Genet 2008 Feb 31;82(2):501-9. Epub 2008 Jan 31.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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February 2008

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Blood 2007 Sep 27;110(5):1439-47. Epub 2007 Apr 27.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852-7231, USA.

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September 2007

Endocrine abnormalities in patients with Fanconi anemia.

J Clin Endocrinol Metab 2007 Jul 10;92(7):2624-31. Epub 2007 Apr 10.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard EPS/7024, Rockville, Maryland 20852, USA.

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July 2007

Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation.

J Am Acad Dermatol 2006 Jun;54(6):1056-9

Dermatology Branch, Center for Cancer Research, Division of Cancer Epidemiology and Research, National Institutes of Health, Bethesda, Maryland, USA.

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June 2006

Persistent questions about the treatment of severe aplastic anemia in children as illustrated by five cases.

Hematology 2003 Dec;8(6):413-9

Division of Blood and Bone Marrow Transplantation, Department of Pediatrics, A. I. duPont Hospital for Children, Wilmington, DE 19899, USA.

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December 2003