| What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia IM Campbell, SE Sheppard, TB Crowley, DE McGinn, A Bailey, ... American Journal of Medical Genetics Part A 176 (10), 2058-2069, 2018 | 168 | 2018 |
| Genetic drivers of kidney defects in the DiGeorge syndrome E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, EA Otto, ... New England Journal of Medicine 376 (8), 742-754, 2017 | 155 | 2017 |
| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 152 | 2017 |
| Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ... Molecular psychiatry 26 (8), 4496-4510, 2021 | 129 | 2021 |
| Congenital heart diseases and cardiovascular abnormalities in 22q11. 2 deletion syndrome: from well‐established knowledge to new frontiers M Unolt, P Versacci, S Anaclerio, C Lambiase, G Calcagni, M Trezzi, ... American journal of medical genetics Part A 176 (10), 2087-2098, 2018 | 91 | 2018 |
| Mapping subcortical brain alterations in 22q11. 2 deletion syndrome: Effects of deletion size and convergence with idiopathic neuropsychiatric illness CRK Ching, BA Gutman, D Sun, J Villalon Reina, A Ragothaman, D Isaev, ... American Journal of Psychiatry 177 (7), 589-600, 2020 | 77 | 2020 |
| The 22q11. 2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias MP Lambert, A Arulselvan, A Schott, SJ Markham, TB Crowley, EH Zackai, ... American journal of medical genetics Part A 176 (10), 2121-2127, 2018 | 72 | 2018 |
| Elucidating the diagnostic odyssey of 22q11. 2 deletion syndrome LD Palmer, NJ Butcher, E Boot, KA Hodgkinson, T Heung, EWC Chow, ... American Journal of Medical Genetics Part A 176 (4), 936-944, 2018 | 70 | 2018 |
| Complete sequence of the 22q11. 2 allele in 1,053 subjects with 22q11. 2 deletion syndrome reveals modifiers of conotruncal heart defects Y Zhao, A Diacou, HR Johnston, FI Musfee, DM McDonald-McGinn, ... The American Journal of Human Genetics 106 (1), 26-40, 2020 | 62 | 2020 |
| Association of airway abnormalities with 22q11. 2 deletion syndrome R Sacca, KB Zur, TB Crowley, EH Zackai, KD Valverde, ... International Journal of Pediatric Otorhinolaryngology 96, 11-14, 2017 | 58 | 2017 |
| Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11. 2 deletion syndrome E Schindewolf, N Khalek, MP Johnson, J Gebb, B Coleman, TB Crowley, ... American Journal of Medical Genetics Part A 176 (8), 1735-1741, 2018 | 57 | 2018 |
| Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome S Oskarsdottir, E Boot, TB Crowley, JCY Loo, JM Arganbright, M Armando, ... Genetics in Medicine 25 (3), 100338, 2023 | 56 | 2023 |
| Identification of 22q11. 2 deletion syndrome via newborn screening for severe combined immunodeficiency JC Barry, TB Crowley, S Jyonouchi, J Heimall, EH Zackai, KE Sullivan, ... Journal of Clinical Immunology 37, 476-485, 2017 | 52 | 2017 |
| Updated clinical practice recommendations for managing adults with 22q11. 2 deletion syndrome E Boot, S Oskarsdottir, JCY Loo, TB Crowley, A Orchanian-Cheff, ... Genetics in Medicine 25 (3), 100344, 2023 | 51 | 2023 |
| Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs IE Sønderby, CRK Ching, SI Thomopoulos, D Van der Meer, D Sun, ... Human brain mapping 43 (1), 300-328, 2022 | 47 | 2022 |
| Variance of IQ is partially dependent on deletion type among 1,427 22q11. 2 deletion syndrome subjects Y Zhao, T Guo, A Fiksinski, E Breetvelt, DM McDonald‐McGinn, ... American Journal of Medical Genetics Part A 176 (10), 2172-2181, 2018 | 45 | 2018 |
| 22q and two: 22q11. 2 deletion syndrome and coexisting conditions JL Cohen, TB Crowley, DE McGinn, C McDougall, M Unolt, MP Lambert, ... American Journal of Medical Genetics Part A 176 (10), 2203-2214, 2018 | 43 | 2018 |
| Orthopaedic manifestations within the 22q11. 2 Deletion syndrome: A systematic review JF Homans, IN Tromp, D Colo, TPC Schlösser, MC Kruyt, VFX Deeney, ... American Journal of Medical Genetics Part A 176 (10), 2104-2120, 2018 | 39 | 2018 |
| Association of mitochondrial biogenesis with variable penetrance of schizophrenia J Li, OT Tran, TB Crowley, TM Moore, EH Zackai, BS Emanuel, ... JAMA psychiatry 78 (8), 911-921, 2021 | 38 | 2021 |
| Deletion size analysis of 1680 22q11. 2DS subjects identifies a new recombination hotspot on chromosome 22q11. 2 T Guo, A Diacou, H Nomaru, DM McDonald-McGinn, M Hestand, ... Human molecular genetics 27 (7), 1150-1163, 2018 | 34 | 2018 |