Published in Am J Hum Genet on November 25, 2010
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 2.38
Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One (2012) 2.33
Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol (2011) 2.32
Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci Transl Med (2011) 1.91
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood (2014) 1.88
You never call, you never write: why return of 'omic' results to research participants is both a good idea and a moral imperative. Per Med (2011) 1.75
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Interferon-induced RIP1/RIP3-mediated necrosis requires PKR and is licensed by FADD and caspases. Proc Natl Acad Sci U S A (2013) 1.59
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57
Exome sequencing: a transformative technology. Lancet Neurol (2011) 1.57
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci U S A (2015) 1.43
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol (2011) 1.38
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity (2013) 1.35
Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol (2014) 1.26
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet (2013) 1.22
Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet (2014) 1.22
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PLoS One (2011) 1.21
Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing. PLoS One (2011) 1.21
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One (2011) 1.20
Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing. PLoS One (2012) 1.10
HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res (2012) 1.08
Population genetic tools for dissecting innate immunity in humans. Nat Rev Immunol (2013) 1.08
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med (2015) 1.07
Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol (2012) 1.05
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics (2013) 1.04
DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation (2012) 1.03
Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol (2015) 1.03
Exome sequencing and genetic testing for MODY. PLoS One (2012) 1.00
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. PLoS One (2013) 0.97
Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J Clin Invest (2014) 0.97
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. Dev Cell (2012) 0.94
Human genetic basis of interindividual variability in the course of infection. Proc Natl Acad Sci U S A (2015) 0.94
Invasive pneumococcal disease in children can reveal a primary immunodeficiency. Clin Infect Dis (2014) 0.91
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One (2012) 0.91
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. J Med Genet (2011) 0.89
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet (2012) 0.87
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One (2012) 0.85
The expanding spectrum of the autoimmune lymphoproliferative syndromes. Curr Opin Pediatr (2013) 0.82
Application of next-generation sequencing in clinical oncology to advance personalized treatment of cancer. Chin J Cancer (2012) 0.82
Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol (2016) 0.80
A genome-wide perspective of human diversity and its implications in infectious disease. Cold Spring Harb Perspect Med (2013) 0.80
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. J Clin Bioinforma (2013) 0.78
Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol (2014) 0.77
Activity of Uncleaved Caspase-8 Controls Anti-bacterial Immune Defense and TLR-Induced Cytokine Production Independent of Cell Death. PLoS Pathog (2016) 0.76
Mendelian susceptibility to mycobacterial disease in egyptian children. Mediterr J Hematol Infect Dis (2012) 0.76
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage. Proc Natl Acad Sci U S A (2016) 0.76
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. J Clin Immunol (2015) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis. Cell (1995) 9.81
Apoptosis: controlled demolition at the cellular level. Nat Rev Mol Cell Biol (2008) 8.30
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell (1995) 5.64
FADD: essential for embryo development and signaling from some, but not all, inducers of apoptosis. Science (1998) 5.29
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science (1995) 4.80
The CD95(APO-1/Fas) DISC and beyond. Cell Death Differ (2003) 4.72
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature (2002) 4.21
Primary immunodeficiencies: a field in its infancy. Science (2007) 3.67
Death receptor signal transducers: nodes of coordination in immune signaling networks. Nat Immunol (2009) 3.63
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell (1999) 2.74
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
A FADD-dependent innate immune mechanism in mammalian cells. Nature (2004) 2.50
The Fas-FADD death domain complex structure unravels signalling by receptor clustering. Nature (2008) 2.11
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood (2006) 1.90
Detection, education and management of the asplenic or hyposplenic patient. Am Fam Physician (2001) 1.72
Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol (2006) 1.69
Fas-associated death domain (FADD) is a negative regulator of T-cell receptor-mediated necroptosis. Proc Natl Acad Sci U S A (2010) 1.67
Fas-associated death domain-containing protein-mediated antiviral innate immune signaling involves the regulation of Irf7. J Immunol (2007) 1.62
A partial form of recessive STAT1 deficiency in humans. J Clin Invest (2009) 1.59
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood (2001) 1.55
FADD: a regulator of life and death. Trends Immunol (2010) 1.51
Primary immunodeficiencies associated with pneumococcal disease. Curr Opin Allergy Clin Immunol (2003) 1.31
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr (2010) 1.17
Functional hyposplenism. South Med J (1987) 1.02
Genetic defects of apoptosis and primary immunodeficiency. Immunol Allergy Clin North Am (2008) 0.96
T cell intrinsic roles of autophagy in promoting adaptive immunity. Curr Opin Immunol (2010) 0.87
Familial asplenia, other malformations, and sudden death. Pediatrics (1980) 0.85
Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol (2001) 6.92
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity (2010) 5.43
Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood (2004) 5.10
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. Cancer Cell (2002) 4.82
Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science (2003) 4.80
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet (2010) 4.20
Mechanism of XIAP-mediated inhibition of caspase-9. Mol Cell (2003) 4.07
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet (2003) 3.95
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
Primary immunodeficiencies: a field in its infancy. Science (2007) 3.67
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol (2009) 3.60
Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2010) 3.54
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol (2006) 3.41
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 3.30
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet (2005) 3.26
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet (2003) 3.24
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics (2012) 3.10
Susceptibility to leprosy is associated with PARK2 and PACRG. Nature (2004) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol (2009) 3.05
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med (2011) 2.96
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet (2004) 2.90
Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst (2008) 2.89
Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res (2006) 2.87
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat (2010) 2.75
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet (2005) 2.62
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol (2010) 2.55
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med (2010) 2.42
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int (2009) 2.40
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 2.38
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet (2009) 2.35
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev (2008) 2.35
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33