R. Sanchez Russo

Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology

N. Fleischer, M. Gambello, J. Mulle, 2021, American journal of medical genetics. Part A.

Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology

N. Fleischer, M. Gambello, J. Mulle, 2020, medRxiv.

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome

E. Walker, Longchuan Li, M. Gambello, 2018, BMC Psychiatry.

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

Steven E. Sloan, E. Walker, P. Dawson, 2021, Genetics in Medicine.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8

C. Murphy, Jiong Yan, D. Imai, 2021, Annals of translational medicine.

Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia

S. Robertson, E. Bedoukian, C. Skraban, 2021, American journal of medical genetics. Part A.