L. Reed

Frequency of 22q11 deletions in patients with conotruncal defects.

E. Zackai, B. Clark, A. Jawad, 1998, Journal of the American College of Cardiology.

Nasal dimple as part of the 22q11.2 deletion syndrome.

E. Zackai, B. Emanuel, K. Gripp, 1997, American journal of medical genetics.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

E. Zackai, K. Sullivan, B. Emanuel, 1997, Arthritis and rheumatism.

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

S. Mansour, C. Hall, A. Haworth, 2021, European journal of medical genetics.

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

N. Brunetti‐Pierri, B. Dallapiccola, A. Bruselles, 2020, Clinical genetics.