1.
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
by Slavotinek, A
Journal of medical genetics, 2005, Vol.42 (9), p.730-736

2.
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions
by El-Hattab, Ayman W
Journal of Medical Genetics, 2011, Vol.48 (12), p.840-850

3.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
by Ryan, A K
Journal of medical genetics, 1997, Vol.34 (10), p.798-804

4.
Polysomy of Chromosomes 1 and/or 19 Is Common and Associated With Less Favorable Clinical Outcome in Oligodendrogliomas: Fluorescent In Situ Hybridization Analysis of 84 Consecutiv...
by Wiens, Andrea L
Journal of neuropathology and experimental neurology, 2012, Vol.71 (7), p.618-624

5.
Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma
by Srinivasan, Anupama
American journal of human genetics, 2013, Vol.92 (2), p.167-176

6.
Interplay of somatic alterations and immune infiltration modulates response to PD-1 blockade in advanced clear cell renal cell carcinoma
by Braun, David A
Nature medicine, 2020, Vol.26 (6), p.909-918

7.
Venetoclax in relapsed or refractory chronic lymphocytic leukaemia with 17p deletion: a multicentre, open-label, phase 2 study
by Stilgenbauer, Stephan, Prof
The lancet oncology, 2016, Vol.17 (6), p.768-778

8.
Heritable gene targeting in the mouse and rat using a CRISPR-Cas system
by Li, Dali
Nature biotechnology, 2013, Vol.31 (8), p.681-683

9.
Ibrutinib for patients with relapsed or refractory chronic lymphocytic leukaemia with 17p deletion (RESONATE-17): a phase 2, open-label, multicentre study
by O'Brien, Susan, Prof
The lancet oncology, 2016, Vol.17 (10), p.1409-1418

10.
Large recurrent microdeletions associated with schizophrenia
by Stefansson, Hreinn
Nature, 2008, Vol.455 (7210), p.232-236

11.
Rare chromosomal deletions and duplications increase risk of schizophrenia
by Stone, JL
Nature, 2008, Vol.455 (7210), p.237-241

12.
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
by Ogata, Tsutomu
Journal of human genetics, 2016, Vol.61 (2), p.87-94

13.
A population study of chromosome 22q11 deletions in infancy
by Goodship, Judith
Archives of disease in childhood, 1998, Vol.79 (4), p.348-351

14.
Chromosome fragile sites
by Durkin, Sandra G
Annual review of genetics, 2007, Vol.41 (1), p.169-192

15.
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
by Lederer, Damien
American journal of human genetics, 2012, Vol.90 (1), p.119-124

16.
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
by Uddin, Mohammed
American journal of human genetics, 2018, Vol.102 (2), p.278-295

17.
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
by Soemedi, Rachel
American journal of human genetics, 2012, Vol.91 (3), p.489-501

18.
Functional analysis of a chromosomal deletion associated with myelodysplastic syndromes using isogenic human induced pluripotent stem cells
by Kotini, Andriana G
Nature biotechnology, 2015, Vol.33 (6), p.646-655

19.
Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype
by Kuchenbauer, Florian
Nature medicine, 2010, Vol.16 (1), p.49-58

20.
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
by Moreno-De-Luca, Daniel
American journal of human genetics, 2010, Vol.87 (5), p.618-630
