|
| 36828084 | Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor. | J Allergy Clin Immunol | 2023 |
| 36828084 | Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor. | J Allergy Clin Immunol | 2023 |
| 36477332 | Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Brain | 2023 |
| 36722341 | Practical challenges for functional validation of STAT1 gain of function genetic variants. | Clin Exp Immunol | 2023 |
| 36722341 | Practical challenges for functional validation of STAT1 gain of function genetic variants. | Clin Exp Immunol | 2023 |
| 36477332 | Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Brain | 2023 |
| 35977078 | Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene. | Blood Adv | 2022 |
| 35960817 | Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. | Sci Immunol | 2022 |
| 35687092 | Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. | Genet Med | 2022 |
| 35977078 | Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene. | Blood Adv | 2022 |
| 35687092 | Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. | Genet Med | 2022 |
| 35960817 | Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. | Sci Immunol | 2022 |
| 34234147 | GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. | Nat Commun | 2021 |
| 34234147 | GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. | Nat Commun | 2021 |
| 32232836 | Thousands of missing variants in the UK Biobank are recoverable by genome realignment. | Ann Hum Genet | 2020 |
| 32353633 | ADA2 deficiency complicated by EBV-driven lymphoproliferative disease. | Clin Immunol | 2020 |
| 32232836 | Thousands of missing variants in the UK Biobank are recoverable by genome realignment. | Ann Hum Genet | 2020 |
| 32735845 | Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans. | Immunity | 2020 |
| 32735845 | Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans. | Immunity | 2020 |
| 32353633 | ADA2 deficiency complicated by EBV-driven lymphoproliferative disease. | Clin Immunol | 2020 |
| 30842974 | Copy number variation of <i>LINGO1</i> in familial dystonic tremor. | Neurol Genet | 2019 |
| 31235509 | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. | J Exp Med | 2019 |
| 31388879 | Predicting the Occurrence of Variants in RAG1 and RAG2. | J Clin Immunol | 2019 |
| 30953794 | Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. | Clin Immunol | 2019 |
| 31006513 | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. | Am J Hum Genet | 2019 |
| 30842974 | Copy number variation of <i>LINGO1</i> in familial dystonic tremor. | Neurol Genet | 2019 |
| 31388879 | Predicting the Occurrence of Variants in RAG1 and RAG2. | J Clin Immunol | 2019 |
| 31235509 | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. | J Exp Med | 2019 |
| 30953794 | Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. | Clin Immunol | 2019 |
| 31006513 | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. | Am J Hum Genet | 2019 |
| 29096039 | Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. | Prenat Diagn | 2018 |
| 29096039 | Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. | Prenat Diagn | 2018 |
| 29305528 | Erratum. Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322. | Diabetes | 2018 |
| 29477728 | Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. | J Allergy Clin Immunol | 2018 |
| 29477724 | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. | J Allergy Clin Immunol | 2018 |
| 29477728 | Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. | J Allergy Clin Immunol | 2018 |
| 29477724 | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. | J Allergy Clin Immunol | 2018 |
| 29305528 | Erratum. Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322. | Diabetes | 2018 |
| 28318089 | A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. | Pediatr Diabetes | 2017 |
| 28373276 | Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. | J Am Soc Nephrol | 2017 |
| 28473463 | Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. | Diabetes | 2017 |
| 28318089 | A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. | Pediatr Diabetes | 2017 |
| 28473463 | Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. | Diabetes | 2017 |
| 28373276 | Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. | J Am Soc Nephrol | 2017 |
| 26708403 | SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. | Clin Endocrinol (Oxf) | 2016 |
| 26708403 | SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. | Clin Endocrinol (Oxf) | 2016 |
| 24961629 | An exome sequencing strategy to diagnose lethal autosomal recessive disorders. | Eur J Hum Genet | 2015 |
| 26231457 | The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. | Lancet | 2015 |
| 26559129 | Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. | Eur J Hum Genet | 2015 |
| 24961629 | An exome sequencing strategy to diagnose lethal autosomal recessive disorders. | Eur J Hum Genet | 2015 |