BioResource Publications – All years
List of publications from NBR-supported research studies acknowledging the BioResource
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Stournaras, Evangelos, et al. “Thiopurine Monotherapy Is Effective in Ulcerative Colitis but Significantly Less so in Crohn’s Disease: Long-Term Outcomes for 11 928 Patients in the UK Inflammatory Bowel Disease Bioresource.” Gut, vol. 70, no. 4, Apr. 2021, pp. 677–86, http://doi.org/10.1136/gutjnl-2019-320185.
Collins, Janine, et al. “Advances in Understanding the Pathogenesis of Hereditary Macrothrombocytopenia.” British Journal of Haematology, Mar. 2021, http://doi.org/10.1111/bjh.17409.
Lorenzini, Tiziana, et al. “Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations.” The Journal of Allergy and Clinical Immunology, vol. 146, no. 4, Oct. 2020, pp. 901–11, http://doi.org/10.1016/j.jaci.2019.11.051.
Mlcochova, Petra, et al. “Combined Point-of-Care Nucleic Acid and Antibody Testing for SARS-CoV-2 Following Emergence of D614G Spike Variant.” Cell Reports. Medicine, vol. 1, no. 6, Sept. 2020, p. 100099, http://doi.org/10.1016/j.xcrm.2020.100099.
Turro, Ernest, et al. “Whole-Genome Sequencing of Patients with Rare Diseases in a National Health System.” Nature, June 2020, pp. 1–9, http://doi.org/10.1038/s41586-020-2434-2.
Levine, Adam P., et al. “Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.” Journal of the American Society of Nephrology: JASN, Jan. 2020, http://doi.org/10.1681/ASN.2019040433.
Davies, Molly R., et al. “The Genetic Links to Anxiety and Depression (GLAD) Study: Online Recruitment into the Largest Recontactable Study of Depression and Anxiety.” Behaviour Research and Therapy, vol. 123, Dec. 2019, p. 103503, http://doi.org/10.1016/j.brat.2019.103503.
Tan, Rhea Y. Y., et al. “How Common Are Single Gene Mutations as a Cause for Lacunar Stroke? A Targeted Gene Panel Study.” Neurology, vol. 93, no. 22, Nov. 2019, pp. e2007–20, http://doi.org/10.1212/WNL.0000000000008544.
MacDonald, Stephen, et al. “Characterization of a Large Cohort of Patients with Unclassified Bleeding Disorder; Clinical Features, Management of Haemostatic Challenges and Use of Global Haemostatic Assessment with Proposed Recommendations for Diagnosis and Treatment.” International Journal of Laboratory Hematology, Nov. 2019, http://doi.org/10.1111/ijlh.13124.
Ulrich, Anna, et al. “Mendelian Randomisation Analysis of Red Cell Distribution Width in Pulmonary Arterial Hypertension.” The European Respiratory Journal, Nov. 2019, http://doi.org/10.1183/13993003.01486-2019.
Hodgson, Joshua, et al. “Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.” American Journal of Respiratory and Critical Care Medicine, Oct. 2019, http://doi.org/10.1164/rccm.201906-1141OC.
Kulkarni, Nainesha, et al. “Traboulsi Syndrome Due to ASPH Mutation: An under-Recognised Cause of Ectopia Lentis.” Clinical Dysmorphology, vol. 28, no. 4, Oct. 2019, pp. 184–89, http://doi.org/10.1097/MCD.0000000000000287.
Bury, Loredana, et al. “Next-Generation Sequencing for the Diagnosis of MYH9-RD: Predicting Pathogenic Variants.” Human Mutation, Sept. 2019, http://doi.org/10.1002/humu.23927.
Recchia, Gabriel, et al. “Creating Genetic Reports That Are Understood by Nonspecialists: A Case Study.” Genetics in Medicine: Official Journal of the American College of Medical Genetics, Sept. 2019, http://doi.org/10.1038/s41436-019-0649-0.
Spencer, Sarah, et al. “Loss of the Interleukin-6 Receptor Causes Immunodeficiency, Atopy, and Abnormal Inflammatory Responses.” The Journal of Experimental Medicine, vol. 216, no. 9, Sept. 2019, pp. 1986–98, http://doi.org/10.1084/jem.20190344.
Southgate, Laura, et al. “Molecular Genetic Framework Underlying Pulmonary Arterial Hypertension.” Nature Reviews. Cardiology, Aug. 2019, http://doi.org/10.1038/s41569-019-0242-x.
Lawless, Dylan, et al. “Predicting the Occurrence of Variants in RAG1 and RAG2.” Journal of Clinical Immunology, Aug. 2019, http://doi.org/10.1007/s10875-019-00670-z.
Fasham, James, et al. “Delineating the Expanding Phenotype Associated with SCAPER Gene Mutation.” American Journal of Medical Genetics. Part A, vol. 179, no. 8, Aug. 2019, pp. 1665–71, http://doi.org/10.1002/ajmg.a.61202.
Megy, Karyn, et al. “Curated Disease-Causing Genes for Bleeding, Thrombotic, and Platelet Disorders: Communication from the SSC of the ISTH.” Journal of Thrombosis and Haemostasis: JTH, vol. 17, no. 8, Aug. 2019, pp. 1253–60, http://doi.org/10.1111/jth.14479.
Jones, Hannah F., et al. “Myoclonus-Dystonia Caused by GNB1 Mutation Responsive to Deep Brain Stimulation.” Movement Disorders: Official Journal of the Movement Disorder Society, vol. 34, no. 7, July 2019, pp. 1079–80, http://doi.org/10.1002/mds.27708.
Lentaigne, Claire, et al. “Germline Mutations in the Transcription Factor IKZF5 Cause Thrombocytopenia.” Blood, June 2019, http://doi.org/10.1182/blood.2019000782.
Tuijnenburg, Paul, et al. “Pathogenic NFKB2 Variant in the Ankyrin Repeat Domain (R635X) Causes a Variable Antibody Deficiency.” Clinical Immunology (Orlando, Fla.), vol. 203, June 2019, pp. 23–27, http://doi.org/10.1016/j.clim.2019.03.010.
Dolzhenko, Egor, et al. “ExpansionHunter: A Sequence-Graph Based Tool to Analyze Variation in Short Tandem Repeat Regions.” Bioinformatics (Oxford, England), May 2019, http://doi.org/10.1093/bioinformatics/btz431.
Downes, Kate, et al. “Diagnostic High-Throughput Sequencing of 2,396 Patients with Bleeding, Thrombotic and Platelet Disorders.” Blood, May 2019, http://doi.org/10.1182/blood.2018891192.
Gorman, Kathleen M., et al. “Bi-Allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.” American Journal of Human Genetics, vol. 104, no. 5, May 2019, pp. 948–56, http://doi.org/10.1016/j.ajhg.2019.03.005.
Padmakumar, Manisha, et al. “A Novel Missense Variant in SLC18A2 Causes Recessive Brain Monoamine Vesicular Transport Disease and Absent Serotonin in Platelets.” JIMD Reports, vol. 47, no. 1, May 2019, pp. 9–16, http://doi.org/10.1002/jmd2.12030.
French, Courtney E., et al. “Whole Genome Sequencing Reveals That Genetic Conditions Are Frequent in Intensively Ill Children.” Intensive Care Medicine, Mar. 2019, http://doi.org/10.1007/s00134-019-05552-x.
Rhodes, Christopher J., et al. “Genetic Determinants of Risk in Pulmonary Arterial Hypertension: International Genome-Wide Association Studies and Meta-Analysis.” The Lancet. Respiratory Medicine, vol. 7, no. 3, Mar. 2019, pp. 227–38, http://doi.org/10.1016/S2213-2600(18)30409-0.
Bauwens, Miriam, et al. “ABCA4-Associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants.” Genetics in Medicine: Official Journal of the American College of Medical Genetics, Jan. 2019, http://doi.org/10.1038/s41436-018-0420-y.
Newnham, Michael, et al. “The ADAMTS13-VWF Axis Is Dysregulated in Chronic Thromboembolic Pulmonary Hypertension.” The European Respiratory Journal, Jan. 2019, http://doi.org/10.1183/13993003.01805-2018.
Sangermano, Riccardo, et al. “Deep-Intronic ABCA4 Variants Explain Missing Heritability in Stargardt Disease and Allow Correction of Splice Defects by Antisense Oligonucleotides.” Genetics in Medicine: Official Journal of the American College of Medical Genetics, Jan. 2019, http://doi.org/10.1038/s41436-018-0414-9.
Wei, Wei, et al. “Germline Selection Shapes Human Mitochondrial DNA Diversity.” Science (New York, N.Y.), vol. 364, no. 6442, 24 2019, http://doi.org/10.1126/science.aau6520.
Silva, Raquel S., et al. “Unique Noncoding Variants Upstream of PRDM13 Are Associated with a Spectrum of Developmental Retinal Dystrophies Including Progressive Bifocal Chorioretinal Atrophy.” Human Mutation, vol. 40, no. 5, 2019, pp. 578–87, http://doi.org/10.1002/humu.23715.
Sanchis-Juan, Alba, et al. “Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.” Frontiers in Genetics, vol. 10, 2019, p. 578, http://doi.org/10.3389/fgene.2019.00578.
De Kock, Lore, et al. “De Novo Variant in Tyrosine Kinase SRC Causes Thrombocytopenia: Case Report of a Second Family.” Platelets, vol. 30, no. 7, 2019, pp. 931–34, http://doi.org/10.1080/09537104.2019.1628197.
van Oorschot, Rinske, et al. “Inherited Missense Variants That Affect GFI1B Function Do Not Necessarily Cause Bleeding Diatheses.” Haematologica, Dec. 2018, http://doi.org/10.3324/haematol.2018.207712.
Geffen, Johanna P. van, et al. “High-Throughput Elucidation of Thrombus Formation Reveals Sources of Platelet Function Variability.” Haematologica, Dec. 2018, http://doi.org/10.3324/haematol.2018.198853.
Thomson, Kate L., et al. “Analysis of 51 Proposed Hypertrophic Cardiomyopathy Genes from Genome Sequencing Data in Sarcomere Negative Cases Has Negligible Diagnostic Yield.” Genetics in Medicine: Official Journal of the American College of Medical Genetics, Dec. 2018, http://doi.org/10.1038/s41436-018-0375-z.
Bariana, Tadbir K., et al. “Sphingolipid Dysregulation Due to Lack of Functional KDSR Impairs Proplatelet Formation Causing Thrombocytopenia.” Haematologica, Nov. 2018, http://doi.org/10.3324/haematol.2018.204784.
Revel-Vilk, Shoshana, et al. “GNE Variants Causing Autosomal Recessive Macrothrombocytopenia without Associated Muscle Wasting.” Blood, vol. 132, no. 17, Oct. 2018, pp. 1851–54, http://doi.org/10.1182/blood-2018-04-845545.
Helbig, Katherine L., et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.” American Journal of Human Genetics, Oct. 2018, http://doi.org/10.1016/j.ajhg.2018.09.006.
Alston, Charlotte L., et al. “Bi-Allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.” American Journal of Human Genetics, vol. 103, no. 4, Oct. 2018, pp. 592–601, http://doi.org/10.1016/j.ajhg.2018.08.013.
Ba-Abbad, Rola, et al. “Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.” Investigative Ophthalmology & Visual Science, vol. 59, no. 12, Oct. 2018, pp. 4812–20, http://doi.org/10.1167/iovs.18-25061.
Tuijnenburg, Paul, et al. “Loss-of-Function Nuclear Factor ΚB Subunit 1 (NFKB1) Variants Are the Most Common Monogenic Cause of Common Variable Immunodeficiency in Europeans.” The Journal of Allergy and Clinical Immunology, vol. 142, no. 4, Oct. 2018, pp. 1285–96, http://doi.org/10.1016/j.jaci.2018.01.039.
Westbury, Sarah K., et al. “Phenotype Description and Response to Thrombopoietin Receptor Agonist in DIAPH1-Related Disorder.” Blood Advances, vol. 2, no. 18, Sept. 2018, pp. 2341–46, http://doi.org/10.1182/bloodadvances.2018020370.
Heremans, Jessica, et al. “Abnormal Differentiation of B Cells and Megakaryocytes in Patients with Roifman Syndrome.” The Journal of Allergy and Clinical Immunology, vol. 142, no. 2, Aug. 2018, pp. 630–46, http://doi.org/10.1016/j.jaci.2017.11.061.
Ito, Yoko, et al. “De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.” American Journal of Human Genetics, vol. 103, no. 1, July 2018, pp. 144–53, http://doi.org/10.1016/j.ajhg.2018.06.001.
Whitworth, James, et al. “Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.” American Journal of Human Genetics, vol. 103, no. 1, July 2018, pp. 3–18, http://doi.org/10.1016/j.ajhg.2018.04.013.
Lawless, Dylan, et al. “Prevalence and Clinical Challenges among Adults with Primary Immunodeficiency and Recombination-Activating Gene Deficiency.” The Journal of Allergy and Clinical Immunology, vol. 141, no. 6, June 2018, pp. 2303–06, http://doi.org/10.1016/j.jaci.2018.02.007.
Williams-Gray, C. H., et al. “Abnormalities of Age-Related T Cell Senescence in Parkinson’s Disease.” Journal of Neuroinflammation, vol. 15, no. 1, May 2018, p. 166, http://doi.org/10.1186/s12974-018-1206-5.
