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| 38019014 | Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy. | Blood Adv | 2024 |
| 36933558 | Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. | Am J Hum Genet | 2023 |
| 37070724 | A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly. | Mol Genet Genomic Med | 2023 |
| 37066159 | Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia. | bioRxiv | 2023 |
| 36789433 | Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy. | bioRxiv | 2023 |
| 34991062 | Pancytopenia and thrombosis defects in zebrafish mutants of Fanconi anemia genes. | Blood Cells Mol Dis | 2022 |
| 35349664 | Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis. | Blood | 2022 |
| 36450981 | Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer. | Nature | 2022 |
| 34162668 | Pathogenic germline <i>IKZF1</i> variant alters hematopoietic gene expression profiles. | Cold Spring Harb Mol Case Stud | 2021 |
| 33960719 | The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature. | Mol Genet Genomic Med | 2021 |
| 34256011 | FANCI functions as a repair/apoptosis switch in response to DNA crosslinks. | Dev Cell | 2021 |
| 31513304 | A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India. | Hum Mutat | 2020 |
| 31871193 | <i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry. | Proc Natl Acad Sci U S A | 2020 |
| 32106311 | Association of clinical severity with FANCB variant type in Fanconi anemia. | Blood | 2020 |
| 33172906 | Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic <i>FANCA</i> variant. | Cold Spring Harb Mol Case Stud | 2020 |
| 32724039 | Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas. | Sci Rep | 2020 |
| 32518111 | Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis. | Proc Natl Acad Sci U S A | 2020 |
| 30722027 | Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas. | Neuro Oncol | 2019 |
| 29044765 | A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. | Hum Mutat | 2018 |
| 30540754 | Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. | PLoS Genet | 2018 |
| 28322272 | Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder. | Mol Psychiatry | 2018 |
| 29098742 | A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. | Hum Mutat | 2018 |
| 29193904 | Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. | Mol Genet Genomic Med | 2018 |
| 28068329 | The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. | Oncogene | 2017 |
| 28280134 | Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. | J Med Genet | 2017 |
| 28167771 | iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations. | Proc Natl Acad Sci U S A | 2017 |
| 28193203 | First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation. | BMC Cancer | 2017 |
| 28324009 | Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening. | J Clin Endocrinol Metab | 2017 |
| 28678401 | Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. | Cancer | 2017 |
| 28503715 | Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN. | J Clin Immunol | 2017 |
| 28544690 | Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease. | Arthritis Rheumatol | 2017 |
| 26139325 | Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia. | Leukemia | 2016 |
| 26590883 | Novel FANCI mutations in Fanconi anemia with VACTERL association. | Am J Med Genet A | 2016 |
| 26642243 | Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. | Nat Genet | 2016 |
| 26841305 | Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. | Hum Mutat | 2016 |
| 25452392 | Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas. | Neuro Oncol | 2015 |
| 26635871 | Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans. | Front Genet | 2015 |
| 26150473 | Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. | J Exp Med | 2015 |
| 26119737 | Deficiency of UBE2T, the E2Â Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. | Cell Rep | 2015 |
| 25865046 | A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase. | Gastroenterology | 2015 |
| 24412158 | One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1. | Genomics | 2014 |
| 25411967 | A systems genetics approach identifies CXCL14, ITGAX, and LPCAT2 as novel aggressive prostate cancer susceptibility genes. | PLoS Genet | 2014 |
| 25036569 | Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). | J Clin Rheumatol | 2014 |
| 25168418 | Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. | Hum Mutat | 2014 |
| 22710270 | Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease. | Mol Psychiatry | 2013 |
| 23613520 | Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. | Blood | 2013 |
| 23653574 | Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. | Mol Syndromol | 2013 |
| 23620400 | TNXB mutations can cause vesicoureteral reflux. | J Am Soc Nephrol | 2013 |
| 23451191 | Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs. | PLoS One | 2013 |
| 21833538 | Menin induces endodermal differentiation in aggregated P19 stem cells by modulating the retinoic acid receptors. | Mol Cell Biochem | 2012 |