| Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Human mutation 39 (11), 1593-1613, 2018 | 354 | 2018 |
| Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, WY Timothy, S Fayer, ... The American Journal of Human Genetics 104 (1), 76-93, 2019 | 222 | 2019 |
| The BabySeq project: implementing genomic sequencing in newborns IA Holm, PB Agrawal, O Ceyhan-Birsoy, KD Christensen, S Fayer, ... BMC pediatrics 18, 1-10, 2018 | 147 | 2018 |
| Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project CA Genetti, TS Schwartz, JO Robinson, GE VanNoy, D Petersen, ... Genetics in medicine 21 (3), 622-630, 2019 | 87 | 2019 |
| Recurrent distal 7q11. 23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems MB Ramocki, M Bartnik, P Szafranski, KE Kołodziejska, Z Xia, J Bravo, ... The American Journal of Human Genetics 87 (6), 857-865, 2010 | 78 | 2010 |
| Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq Project S Pereira, JO Robinson, AM Gutierrez, DK Petersen, RL Hsu, CH Lee, ... Pediatrics 143 (Supplement_1), S6-S13, 2019 | 68 | 2019 |
| Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project MH Wojcik, T Zhang, O Ceyhan-Birsoy, CA Genetti, MS Lebo, TW Yu, ... Genetics in Medicine 23 (7), 1372-1375, 2021 | 64 | 2021 |
| Returning a genomic result for an adult-onset condition to the parents of a newborn: insights from the BabySeq project IA Holm, A McGuire, S Pereira, H Rehm, RC Green, AH Beggs, ... Pediatrics 143 (Supplement_1), S37-S43, 2019 | 56 | 2019 |
| Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial S Pereira, HS Smith, LA Frankel, KD Christensen, R Islam, JO Robinson, ... JAMA pediatrics 175 (11), 1132-1141, 2021 | 41 | 2021 |
| ClinGen Hearing Loss Clinical Domain Working Group Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Hum. Mutat 39, 1593-1613, 2018 | 35 | 2018 |
| Challenging the current recommendations for carrier testing in children GE VanNoy, CA Genetti, AL McGuire, RC Green, AH Beggs, IA Holm, ... Pediatrics 143 (Supplement_1), S27-S32, 2019 | 21 | 2019 |
| Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders I Mannucci, NDP Dang, H Huber, JB Murry, J Abramson, T Althoff, ... Genome medicine 13 (1), 90, 2021 | 20 | 2021 |
| Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report JB Murry, K Machini, O Ceyhan-Birsoy, A Kritzer, JB Krier, MS Lebo, ... Molecular Case Studies 4 (4), a002873, 2018 | 11 | 2018 |
| A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies JB Murry, XM Santos, X Wang, YW Wan, IB Van den Veyver, JE Dietrich Fertility and sterility 103 (2), 487-493, 2015 | 10 | 2015 |
| Chronic maternal protein deprivation in mice is associated with overexpression of the cohesin-mediator complex in liver of their offspring A Balasa, A Sanchez-Valle, B Sadikovic, H Sangi-Haghpeykar, J Bravo, ... The Journal of nutrition 141 (12), 2106-2112, 2011 | 8 | 2011 |
| Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project S Pereira, AM Gutierrez, JO Robinson, KD Christensen, CA Genetti, ... Genetics in Medicine 25 (3), 100002, 2023 | 6 | 2023 |
| Maternal stress in Shank3ex4-9 mice increases pup-directed care and alters brain white matter in male offspring BKY Wong, JB Murry, R Ramakrishnan, F He, A Balasa, GR Stinnett, ... PLoS One 14 (11), e0224876, 2019 | 3 | 2019 |
| Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants RJ Boyd, JB Murry, LA Morsberger, M Klausner, S Chen, CD Gocke, ... Cancers 15 (22), 5439, 2023 | 1 | 2023 |
| Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas YS Zou, L Morsberger, M Hardy, J Ghabrial, V Stinnett, JB Murry, P Long, ... Genes 14 (6), 1139, 2023 | 1 | 2023 |
| A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping YS Zou, M Klausner, J Ghabrial, V Stinnett, P Long, L Morsberger, ... Blood Cancer Journal 14 (1), 78, 2024 | | 2024 |
