L. Davis-Keppen

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

Sani-Cloth Wipe Mimics Rare Enzyme Deficiency Malonic Aciduria on Newborn Screen

L. Davis-Keppen, D. Lynch, Bailey A Reindl, 2012, Pediatrics.

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency

J. Parboosingh, M. Kruer, J. Weimer, 2013, Movement disorders : official journal of the Movement Disorder Society.

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

E. Zackai, J. Carey, R. Mewar, 1994, American journal of human genetics.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

R. Person, Y. Weber, M. Weiss, 2020, European journal of medical genetics.

Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern

Kiley J. Johnson, Q. Stein, P. Crotwell, 2008, Prenatal diagnosis.