1. A CNV Catalogue
   Herman E. Wyandt et al, 2017, Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis CrossRef
2. Diagnóstico prenatal de Trombocitopenia-Aplasia Radial (TAR): Reporte de un caso y revisión de la literatura
   Ivan Aivasovsky et al, 2023, Pediatría CrossRef
3. Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment
   Gabriele Strauss et al, 2023, Hämostaseologie CrossRef
4. Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
   Fagui Yue et al, 2023, Frontiers in Medicine CrossRef
5. Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
   Bruno F. Gamba et al, 2016, Molecular Syndromology CrossRef
6. Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound
   Chih-Ping Chen et al, 2018, Taiwanese Journal of Obstetrics and Gynecology CrossRef
7. Thrombocytopenia-Absent Radius Syndrome
   Harold Chen, 2017, Atlas of Genetic Diagnosis and Counseling CrossRef
8. Molecular Genetics and Prenatal Diagnosis
   Jeff M. Milunsky, 2021, Genetic Disorders and the Fetus CrossRef
9. Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects
   Gökcen Karamık et al, 2022, The Journal of Pediatric Research CrossRef
10. Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects
    André M. Travessa et al, 2020, Taiwanese Journal of Obstetrics and Gynecology CrossRef
11. A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia
    Dimitrios T. Papadimitriou et al, 2021, Journal of Diabetes CrossRef
12. Molecular diagnosis of thrombocytopenia‐absent radius syndrome using next‐generation sequencing
    E. Nicchia et al, 2016, International Journal of Laboratory Hematology CrossRef
13. Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
    Elisa Tassano et al, 2015, Molecular Cytogenetics CrossRef
14. Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound
    Chih-Ping Chen et al, 2019, Taiwanese Journal of Obstetrics and Gynecology CrossRef
15. Obstetric Care of Migrant Populations
    Apostolos M. Mamopoulos et al, 2021, The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology CrossRef
16. Thrombocytopenia-Absent Radius Syndrome
    Harold Chen, 2015, Atlas of Genetic Diagnosis and Counseling CrossRef
17. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
    Simon Boussion et al, 2020, Human Mutation CrossRef
18. Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles
    Catarina Monteiro et al, 2022, International Journal of Molecular Sciences CrossRef
19. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
    A. Vetro et al, 2018, Clinical Genetics CrossRef
20. Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome
    Georgi Manukjan et al, 2017, British Journal of Haematology CrossRef