S. Sodhi

A recurrent EYA1 mutation causing alternative RNA splicing in branchio‐oto‐renal syndrome: Implications for molecular diagnostics and disease mechanism

B. Papsin, T. Stockley, R. Mendoza-Londono, 2009, American journal of medical genetics. Part A.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia

S. Scherer, C. Marshall, T. Paton, 2017, American journal of medical genetics. Part A.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.