Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga‐Jauregui, James R. Lupski, Jason R. Willer et al.|Cell Reports|2015Cited by 247
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis SyndromeMichael F. Wangler, Arthur L. Beaudet, Claudia Gonzaga‐Jauregui et al.|PLoS Genetics|2014Cited by 142
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Yuri A. Zárate, Gabrielle Lemire et al.|Genetics in Medicine|2020Cited by 62
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Peter G. Farlie, Claudia Gonzaga‐Jauregui et al.|The American Journal of Human Genetics|2017Cited by 58
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga‐Jauregui, James R. Lupski, Gözde Yeşil et al.|European Journal of Human Genetics|2020Cited by 39