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Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsNoura S Abul-Husn, Priya N Marathe, Nicole R Kelly, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2022
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohortJosephina A N Meester, Silke Peeters, Lotte Van Den Heuvel, et al.Cell|February 19, 2022
Transcription factor protein interactomes reveal genetic determinants in heart diseaseBarbara Gonzalez-Teran, Maureen Pittman, Franco Felix, et al.American Journal of Human Genetics|May 21, 2019
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine ResearchCarol R Horowitz, Lori A Orlando, Anne M Slavotinek, et al.Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.Public Health Genomics|January 19, 2025
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot StudyJacqueline A Odgis, Nicole R Kelly, Monisha Sebastin, et al.Circulation Research|February 9, 2021
Mechanisms of Congenital Heart Disease Caused by NAA15 HaploinsufficiencyTarsha Ward, Warren Tai, Sarah Morton, et al.Clinical Genetics|June 19, 2023
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programKatherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, et al.HGG Advances|June 26, 2024
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual populationPriya N Marathe, Sabrina A Suckiel, Katherine E Bonini, et al.Pageof 39