CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-FetoproteinAnne Slavotinek & Julie Kaylor & Heather Pierce & Michelle Cahr & Stephanie J. DeWard & Dina Schneidman-Duhovny & Adnan Alsadah & Fadi Salem & Gabriela Schmajuk & Lakshmi Mehta2014PDF934 KB
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R. Braddock, Anne M. Slavotinek, Julie S. Cohen, Cynthia S. Gubbels, Kimberly A. Aldinger, Judy Williams, Maanasa Indaram, Ali Fatemi, Timothy W. Yu, Pankaj B. Agrawal2019PDF5.3 MB
The Genomic Medicine Integrative Research FrameworkCarol R. Horowitz & Lori A. Orlando & Anne M. Slavotinek & Josh Peterson & Frank Angelo & Barbara Biesecker & Vence L. Bonham & Linda D. Cameron & Stephanie M. Fullerton & Bruce D. Gelb & Katrina A.B. Goddard & Benyam Hailu & Ragan Hart & Lucia A....2019PDF865 KB
Patterns of Mosaicism for Sequence and Copy-number Variants Discovered Through Clinical Deep Sequencing of Disease-related Genes in One Million IndividualsRebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda-Alvarez, Britt Johnson, Amanda Stafford, Lina Basel-Salmon, Sulagna Saitta, Anne Slavotinek, Settara C. Chandrasekharappa, Carlos Jose Suarez2023PDF3.4 MB
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW. Gregory Feero & Robert D. Steiner & Anne Slavotinek & Tiago Faial & Michael J. Bamshad & Jehannine Austin & Bruce R. Korf & Annette Flanagin & Kirsten Bibbins-Domingo2024PDF111 KB