Patroula Smpokou

Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication

Baheyeldin Salem, Joyce T. Turner, S. Hofherr, 2016, Journal of pediatric hematology/oncology.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

K. Gripp, D. Viskochil, D. Stevenson, 2015, American journal of medical genetics. Part A.

Malignancy in Noonan syndrome and related disorders

M. Summar, K. Rosenbaum, D. Zand, 2015, Clinical genetics.

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

Robert W. Taylor, P. Bonnen, V. Appadurai, 2018, Human mutation.

PTEN hamartoma tumour syndrome: early tumour development in children

W. Tan, V. Fox, P. Smpokou, 2014, Archives of Disease in Childhood.

Menkes disease in affected females: The clinical disease spectrum

E. Engle, G. Berry, U. Lichter-Konecki, 2015, American journal of medical genetics. Part A.

Noonan syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, R. Stevenson, 2017, American journal of medical genetics. Part A.

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

R. Kucherlapati, A. Roberts, P. Smpokou, 2012, American journal of medical genetics. Part A.