Yang Cao

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Marina T. DiStefano, H. Mefford, David T. Miller, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure.

U. Aypar, Yang Cao, 2016, European journal of medical genetics.

From karyotypes to precision genomics in 9p deletion and duplication syndromes

Jeffrey K. Ng, Eleanor I Sams, R. Mitra, 2021, HGG advances.

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

A. Toutain, Kilannin Krysiak, B. Gilbert-Dussardier, 2021, Clinical genetics.

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

Ying Peng, Weiyue Gu, Xi Zhang, 2023, Frontiers in Molecular Neuroscience.

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

N. Hoppman, M. Wick, W. Highsmith, 2016, Case reports in genetics.

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development

N. Hoppman, E. Mitchell, J. Gorski, 2016, American journal of medical genetics. Part A.

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

Ying Peng, Ya-qin Wang, Hua Wang, 2021, Frontiers in Genetics.

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

P. Lundquist, E. Faqeih, B. Pitel, 2017, European journal of medical genetics.

High‐depth next‐generation sequencing panel testing in the evaluation of arteriovenous malformations

J. Neidich, M. Schroeder, J. Heusel, 2023, American journal of medical genetics. Part A.

Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia

Yi Yang, Qiuxia Lv, W. Yuan, 2023, Frontiers in Oncology.