Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ... Cell 149 (3), 525-537, 2012 | 641 | 2012 |
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing A Veres, BS Gosis, Q Ding, R Collins, A Ragavendran, H Brand, S Erdin, ... Cell stem cell 15 (1), 27-30, 2014 | 627 | 2014 |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 313 | 2017 |
Clinical diagnosis by whole-genome sequencing of a prenatal sample ME Talkowski, Z Ordulu, V Pillalamarri, CB Benson, I Blumenthal, ... New England Journal of Medicine 367 (23), 2226-2232, 2012 | 224 | 2012 |
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 178 | 2014 |
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities JC Hodge, E Mitchell, V Pillalamarri, TL Toler, F Bartel, HM Kearney, ... Molecular psychiatry 19 (3), 368-379, 2014 | 69 | 2014 |
Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis Z Ordulu, T Kammin, H Brand, V Pillalamarri, CE Redin, RL Collins, ... The American Journal of Human Genetics 99 (5), 1015-1033, 2016 | 63 | 2016 |
Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease SY Yang, CA Castellani, RJ Longchamps, VK Pillalamarri, B O'Rourke, ... Genome research 31 (3), 349-358, 2021 | 62 | 2021 |
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs X Chen, Y Shen, F Zhang, C Chiang, V Pillalamarri, I Blumenthal, ... The American Journal of Human Genetics 92 (3), 375-386, 2013 | 55 | 2013 |
Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders. V Pillalamarri*, H Brand*, RL Collins, S Eggert, CO Dushlaine, ... The American Journal of Human Genetics 95 (4), p454–461, 2014 | 54 | 2014 |
Paired-duplication signatures mark cryptic inversions and other complex structural variation H Brand, RL Collins, C Hanscom, JA Rosenfeld, V Pillalamarri, MR Stone, ... The American Journal of Human Genetics 97 (1), 170-176, 2015 | 53 | 2015 |
Consistent RNA sequencing contamination in GTEx and other data sets TO Nieuwenhuis, SY Yang, RX Verma, V Pillalamarri, DE Arking, ... Nature communications 11 (1), 1933, 2020 | 50 | 2020 |
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole‐genome sequencing MJ Macera, A Sobrino, B Levy, V Jobanputra, V Aggarwal, A Mills, ... Prenatal diagnosis 35 (3), 299-301, 2015 | 38 | 2015 |
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis K Mukherjee, K Ishii, V Pillalamarri, T Kammin, JF Atkin, SE Hickey, QJ Xi, ... Human molecular genetics 25 (7), 1255-1270, 2016 | 34 | 2016 |
Genomic and functional overlap between somatic and germline chromosomal rearrangements S van Heesch, M Simonis, MJ van Roosmalen, V Pillalamarri, H Brand, ... Cell reports 9 (6), 2001-2010, 2014 | 30 | 2014 |
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity C Ernst, CR Marshall, Y Shen, K Metcalfe, J Rosenfeld, JC Hodge, ... Archives of general psychiatry 69 (12), 1238-1246, 2012 | 28 | 2012 |
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay SLP Schilit, BB Currall, R Yao, C Hanscom, RL Collins, V Pillalamarri, ... European Journal of Human Genetics 24 (11), 1622-1626, 2016 | 13 | 2016 |
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number V Pillalamarri, W Shi, C Say, S Yang, J Lane, E Guallar, N Pankratz, ... Human Genetics and Genomics Advances 4 (1), 2023 | 7 | 2023 |
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality YS Hong, SL Battle, W Shi, D Puiu, V Pillalamarri, J Xie, N Pankratz, ... Nature communications 14 (1), 6113, 2023 | 4 | 2023 |
Basal Contamination of Bulk Sequencing: Lessons from the GTEx dataset TO Nieuwenhuis, S Yang, V Pillalamarri, DE Arking, AZ Rosenberg, ... BioRxiv, 602367, 2019 | 3 | 2019 |