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Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.
Clinical and Experimental Immunology|July 22, 2014
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarrayD K Bayer, C A Martinez, H S Sorte, et al.
Circulation. Cardiovascular Genetics|June 22, 2014
Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing StudyBelinda K Cornes, Jennifer A Brody, Naghmeh Nikpoor, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Genetic architecture of laterality defects revealed by whole exome sequencingAlexander H Li, Neil A Hanchard, Mahshid Azamian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Cell|March 8, 2011
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphataseTingting Sun, Nicola Aceto, Kristen L Meerbrey, et al.
HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Complete Genomic Characterization of Global Pathogens, Respiratory Syncytial Virus (RSV), and Human Norovirus (HuNoV) Using Probe-based Capture EnrichmentSravya V Bhamidipati, Anil Surathu, Hsu Chao, et al.
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