Kelly Bontempo

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

J. Hoffman, K. J. Taber, R. Ben-Shachar, 2019, Prenatal diagnosis.

Application of a severity framework to 176 genes on an expanded carrier screening panel

J. Hoffman, K. J. Taber, R. Slotnick, 2019 .

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J. Rosenfeld, R. Pfundt, M. Shinawi, 2020, Journal of Medical Genetics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, G. Marth, A. Farrell, 2019, Genetics in Medicine.

Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool

K. Gripp, B. Angle, S. Amudhavalli, 2018, American journal of medical genetics. Part A.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, Gabor T. Marth, M. Hannibal, 2019, Genetics in Medicine.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Maeson S. Latsko, P. Jayakar, K. Štěrbová, 2023, Research square.