Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Open accessAbstract
A 12-year-old boy currently is followed by multiple subspecialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) (Figure). He was born via spontaneous vaginal delivery, weighing 3033 g, to a 31-year-old G3P3 mother after a full-term pregnancy complicated only by mild polyhydramnios. Family history was non-contributory. Apgar scores were 8 at 1 minute and 9 at 5 minutes. With the exception of a weak cry, the results of the infant’s initial examination were unremarkable, and he was moved to the well-baby nursery.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
22q11.2 and 16p11.2 deletions can also be found in healthy individuals, which is consistent with incomplete penetrance.
“The deletions can also be detected in healthy individuals, an observation consistent with incomplete penetrance (50,96)”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [96]
22q11.2 and 16p11.2 deletions are associated with variable severity with various neuropsychiatric disorders, including ASD, intellectual disability, and schizophrenia.
“Both deletions are in fact associated, with variable severity, with various neuropsychiatric disorders, including ASD, ID and schizophrenia, among others (50,96).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [96]
Incomplete penetrance is true for most of the ASD genes and loci identified so far.
“which is true for most of the genes and loci that have been identified.”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [96]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
Self-citationClinical guidelines: Developing guidelines
Shekelle, P., Woolf, S. H., Eccles, M., & Grimshaw, J. (1999) · BMJ · doi:10.1136/bmj.318.7183.593 · Cited by 1,220 · see citing works
Shaikh, T. H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.489 · Cited by 526 · see citing works
Driscoll, D. A., Salvin, J., Sellinger, B., Budarf, M. L., McDonald‐McGinn, D. M., Zackai, E. H., & Emanuel, B. S. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.813 · Cited by 487 · see citing works
Self-citationClinical features of 78 adults with 22q11 deletion syndrome
Bassett, A. S., Chow, E. W. C., Husted, J., Weksberg, R., Caluseriu, O., Webb, G. D., & Gatzoulis, M. Α. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30984 · Cited by 476 · see citing works
Self-citationThe Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald‐McGinn, D. M., Kirschner, R. E., Goldmuntz, E., Sullivan, K. E., Eicher, P. S., Gerdes, M., Moss, E., Solot, C. B., Wang, P., Jacobs, I. N., et al. (1999) · PubMed · Cited by 435 · see citing works
Self-citationRauch, A. M., Hoyer, J., Guth, S., Zweier, C., Kraus, C. S., Becker, C., Zenker, M., Hüffmeier, U., Thiel, C. T., Rüschendorf, F., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31416 · Cited by 430 · see citing works
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
Óskarsdóttir, S. (2004) · Archives of Disease in Childhood · doi:10.1136/adc.2003.026880 · Cited by 401 · see citing works
A deletion in chromosome 22 can cause digeorge syndrome
de la Chapelle, A., Herva, R., Koivisto, M. E., & Aula, P. (1981) · Human Genetics · doi:10.1007/bf00278938 · Cited by 383 · see citing works
Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
Edelmann, L. J., PANDITA, R. K., & Morrow, B. E. (1999) · The American Journal of Human Genetics · doi:10.1086/302343 · Cited by 374 · see citing works
McDonald‐McGinn, D. M., Tonnesen, M. K., Laufer‐Cahana, A., Finucane, B. M., Driscoll, D. A., Emanuel, B. S., & Zackai, E. H. (2001) · Genetics in Medicine · doi:10.1097/00125817-200101000-00006 · Cited by 316 · see citing works
Self-citationGreen, T., Gothelf, D., Glaser, B., Debbane, M., Frisch, A., Kotler, M., Weizman, A., & Eliez, S. (2009) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e3181b76683 · Cited by 289 · see citing works
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
Burn, J., Takao, A., Wilson, D. I., Cross, I., Momma, K., Wadey, R., Scambler, P. J., & Goodship, J. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.822 · Cited by 270 · see citing works
Schizophrenia and 22q11.2 deletion syndrome
Bassett, A. S., & Chow, E. W. C. (2008) · Current Psychiatry Reports · doi:10.1007/s11920-008-0026-1 · Cited by 253 · see citing works
Self-citationPrevalence of 22q11 microdeletion.
du Montcel, S. T., Mendizabai, H., Aymé, S., Lévy, A., & Philip, N. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.8.719 · Cited by 252 · see citing works
Self-citationA population study of chromosome 22q11 deletions in infancy
Goodship, J., Cross, I., Li‐Ling, J., & Wren, C. (1998) · Archives of Disease in Childhood · doi:10.1136/adc.79.4.348 · Cited by 246 · see citing works
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
Scambler, P. J., Carey, A. H., Wyse, R. K. H., Roach, S., Dumanski, J. P., Nordenskjöld, M., & Williamson, R. (1991) · Genomics · doi:10.1016/0888-7543(91)90501-5 · Cited by 234 · see citing works
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Goldmuntz, E., Driscoll, D. A., Budarf, M. L., Zackai, E. H., McDonald‐McGinn, D. M., Biegel, J. A., & Emanuel, B. S. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.807 · Cited by 220 · see citing works
Self-citationThe association of the DiGeorge anomalad with partial monosomy of chromosome 22
Kelley, R. I., Zackai, E. H., Emanuel, B. S., Kistenmacher, M. L., Greenberg, F., & Punnett, H. H. (1982) · The Journal of Pediatrics · doi:10.1016/s0022-3476(82)80116-9 · Cited by 194 · see citing works
Presenting phenotype in 100 children with the 22q11 deletion syndrome
�skarsd�ttir, S., Persson, C., Eriksson, B. O., & Fasth, A. L. (2004) · European Journal of Pediatrics · doi:10.1007/s00431-004-1577-8 · Cited by 190 · see citing works
Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
Chow, E. W. C., Watson, M., Young, D. A., & Bassett, A. S. (2006) · Schizophrenia Research · doi:10.1016/j.schres.2006.04.007 · Cited by 186 · see citing works
Self-citationIntellectual abilities in a large sample of children with Velo–Cardio–Facial Syndrome: an update
Smedt, B. D., Devriendt, K., Fryns, J. P., Vogels, A., Gewillig, M. H. M. L., & Swillen, A. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2007.00955.x · Cited by 178 · see citing works
Self-citationCocchi, G., Gualdi, S., Bower, C., Halliday, J. L., Jonsson, B., Myrelid, Å., Mastroiacovo, P., Amar, E., Bakker, M. K., Correa, A., et al. (2010) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20666 · Cited by 163 · see citing works
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
Bassett, A. S., Marshall, C. R., Lionel, A. C., Chow, E. W. C., & Scherer, S. W. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn307 · Cited by 162 · see citing works
Self-citationAutosomal dominant “Opitz” GBBB syndrome due to a 22q11. 2 deletion
McDonald‐McGinn, D. M., Driscoll, D. A., Bason, L. D., Christensen, K. M., Lynch, D. R., Sullivan, K. E., Canning, D. A., Zavod, W., Quinn, N., Rome, J. J., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320590122 · Cited by 161 · see citing works
Self-citationConfirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joho, K., Ikeda, K., Nishibatake, M., Ando, M., & Momma, K. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320530314 · Cited by 157 · see citing works
Amati, F., Conti, E., Novelli, A., Bengala, M., Digilio, M. C., Marino, B., Giannotti, A., Gabrielli, O., Novelli, G., & Dallapiccola, B. (1999) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200399 · Cited by 133 · see citing works
Self-citationCardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome
Carotti, A., Digilio, M. C., Piacentini, G., Saffirio, C., Donato, R. M. D., & Marino, B. (2008) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.6 · Cited by 127 · see citing works
Self-citationMolecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
Emanuel, B. S. (2008) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.3 · Cited by 122 · see citing works
Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype
Giannotti, A., Digilio, M. C., Marino, B., Mingarelli, R., & Dallapiccola, B. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320530320 · Cited by 108 · see citing works
Self-citationChromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial Syndrome
Sullivan, K. E. (2008) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2008.01.003 · Cited by 105 · see citing works
Self-citationElevated Prevalence of Generalized Anxiety Disorder in Adults With 22q11.2 Deletion Syndrome
Fung, W. L. A., McEvilly, R., Fong, J., Silversides, C., Chow, E. W. C., & Bassett, A. S. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.09101463 · Cited by 98 · see citing works
Self-citationPremature death in adults with 22q11.2 deletion syndrome
Bassett, A. S., Chow, E. W. C., Husted, J., Hodgkinson, K. A., Oechslin, E. N., Harris, L., & Silversides, C. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063800 · Cited by 90 · see citing works
Self-citationSandrin‐Garcia, P., Macedo, C., Martelli, L. R., Ramos, E. S., Guion‐Almeida, M. L., Richieri‐Costa, A., & Passos, G. A. S. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610511.x · Cited by 86 · see citing works
The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective
Antshel, K. M., Fremont, W. P., & Kates, W. R. (2008) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.7 · Cited by 83 · see citing works
Genetic counseling for the 22q11.2 deletion
McDonald‐McGinn, D. M., & Zackai, E. H. (2008) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.10 · Cited by 83 · see citing works
Self-citationCayler cardiofacial syndrome and del 22q11 : part of the CATCH 22 phenotype
Giannotti, A. (1994) · Medical Entomology and Zoology · Cited by 62 · see citing works
Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome
Consevage, M. W., Seip, J. R., Belchis, D., Davis, A. T., Baylen, B. G., & Rogan, P. K. (1996) · The American Journal of Cardiology · doi:10.1016/s0002-9149(97)89165-5 · Cited by 49 · see citing works
Siervi, A. D., Rossetti, M. V., Parera, V. E., Astrin, K. H., Aizencang, G. I., Glass, I. A., Batlle, A. M. D. C., & Desnick, R. J. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991008)86:4 · Cited by 42 · see citing works
Self-citation22q11 deletion: a multisystem disorder requiring multidisciplinary input
Greenhalgh, K. L. (2003) · Archives of Disease in Childhood · doi:10.1136/adc.88.6.523 · Cited by 30 · see citing works
Recognizing a common genetic syndrome: 22q11.2 deletion syndrome
Kapadia, R. K., & Bassett, A. S. (2008) · Canadian Medical Association Journal · doi:10.1503/cmaj.071300 · Cited by 29 · see citing works
Self-citationBaumer, A., Riegel, M., & Schinzel, A. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016352 · Cited by 23 · see citing works
Park, J. P., Moeschler, J. B., Hani, V. H., Hawk, A. B., Belloni, D. R., Noll, W. W., & Mohandas, T. K. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980630)78:2 · Cited by 18 · see citing works
Evidence‐based medicine and practice guidelines: Application to genetics
Toriello, H. V., & Goldenberg, P. C. (2009) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30222 · Cited by 9 · see citing works
Self-citation
Flagged first, then by citations
2 of the 47 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
Self-citationMarino, B. S., Lipkin, P. H., Newburger, J. W., Peacock, G., Gerdes, M., Gaynor, J. W., Mussatto, K. A., Uzark, K., Goldberg, C. S., Johnson, W. H., et al. (2012) · Circulation · doi:10.1161/cir.0b013e318265ee8a · Cited by 1,608 · see citing works
Self-citationSchneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., van den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., et al. (2014) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2013.13070864 · Cited by 779 · see citing works
Self-citationPractice parameter for the diagnosis and management of primary immunodeficiency
Bonilla, F. A., Khan, D. A., Ballas, Z. K., Chinen, J., Frank, M. M., Hsu, J. T., Keller, M. D., Kobrynski, L. J., Komarow, H. D., Mazer, B. D., et al. (2015) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.04.049 · Cited by 807 · see citing works
Gregg, A. R., Skotko, B. G., Benkendorf, J., Monaghan, K. G., Bajaj, K., Best, R. G., Klugman, S. D., & Watson, M. S. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.97 · Cited by 684 · see citing works
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70011-5 · Cited by 330 · see citing works
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Grati, F. R., Gomes, D. M., Ferreira, J. C., Dupont, C., Alesi, V., Gouas, L., Horelli‐Kuitunen, N., Choy, K. W., García-Herrero, S., de la Vega, A. G., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4613 · Cited by 311 · see citing works
Autism spectrum disorder in adults: diagnosis, management, and health services development
Murphy, C. M., Wilson, C., Robertson, D., Ecker, C., Daly, E., Hammond, N., Galanopoulos, A., Dud, I., Murphy, D., & McAlonan, G. M. (2016) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s65455 · Cited by 268 · see citing works
Sood, E., Newburger, J. W., Anixt, J. S., Cassidy, A. R., Jackson, J. L., Jonas, R. A., Lisanti, A. J., Lopez, K. N., Peyvandi, S., Marino, B. S., et al. (2024) · Circulation · doi:10.1161/cir.0000000000001211 · Cited by 266 · see citing works
Self-citationPractical guidelines for managing adults with 22q11.2 deletion syndrome
Fung, W. L. A., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.175 · Cited by 312 · see citing works
Self-citationDevelopmental Trajectories in 22q11.2 Deletion
Swillen, A., & McDonald-McGinn, D. (2015) · American Journal of Medical Genetics. Part C, Seminars in Medical Genetics · doi:10.1002/ajmg.c.31435 · Cited by 169 · see citing works
Self-citationGenetics and genomics of autism spectrum disorder: embracing complexity
De Rubeis, S., & Buxbaum, J. D. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv273 · Cited by 208 · see citing works
Lowther, C., Costain, G., Stavropoulos, D. J., Melvin, R., Silversides, C. K., Andrade, D. M., So, J., Faghfoury, H., Lionel, A. C., Marshall, C. R., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.83 · Cited by 174 · see citing works
Self-citation22q11.2 deletion syndrome in diverse populations
Kruszka, P. S., Addissie, Y. A., McGinn, D. E., Porras, A. R., Biggs, E., Share, M., Crowley, T. B., Chung, B. H., Mok, G. T. K., Mak, C. C. Y., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38199 · Cited by 163 · see citing works
Self-citationClinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
Cancrini, C., Puliafito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., Cardinale, F., Finocchi, A., et al. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.01.056 · Cited by 161 · see citing works
Self-citationAssociation Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome
Butcher, N. J., Kiehl, T., Hazrati, L., Chow, E. W. C., Rogaeva, E. A., Lang, A. E., & Bassett, A. S. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.3646 · Cited by 159 · see citing works
Self-citationMotor Delays: Early Identification and Evaluation
Noritz, G. H., Murphy, N. A., PANEL, N. S. E., Murphy, N. A., Hagan, J. F., Lipkin, P. H., Macias, M. M., Navsaria, D., Noritz, G. H., Peacock, G., et al. (2013) · PEDIATRICS · doi:10.1542/peds.2013-1056 · Cited by 160 · see citing works
Genetics of structural and functional brain changes in autism spectrum disorder
Hashem, S., Nisar, S., Bhat, A. A., Yadav, S. K., Azeem, M. W., Bagga, P., Fakhro, K. A., Reddy, R. D., Frenneaux, M. P., & Haris, M. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00921-3 · Cited by 161 · see citing works
Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated
Tang, S. X., Yi, J. J., Calkins, M. E., Whinna, D. A., Kohler, C. G., Souders, M. C., McDonald‐McGinn, D. M., Zackai, E. H., Emanuel, B. S., Gur, R. C., et al. (2013) · Psychological Medicine · doi:10.1017/s0033291713001669 · Cited by 156 · see citing works
Self-citationMolecular genetics of 22q11.2 deletion syndrome
Morrow, B. E., McDonald‐McGinn, D. M., Emanuel, B. S., Vermeesch, J. R., & Scambler, P. J. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40504 · Cited by 137 · see citing works
Self-citationGross, S. J., Stosic, M., McDonald‐McGinn, D. M., Bassett, A. S., Norvez, A., Dhamankar, R., Kobara, K., Kırkızlar, E., Zimmermann, B. G., Wayham, N. P., et al. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.15754 · Cited by 146 · see citing works
Self-citationCostain, G., Lionel, A. C., Merico, D., Forsythe, P., Russell, K., Lowther, C., Yuen, T., Husted, J., Stavropoulos, D. J., Speevak, M. D., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt297 · Cited by 134 · see citing works
Self-citation22q11.2 deletion syndrome and congenital heart disease
Goldmuntz, E. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31774 · Cited by 134 · see citing works
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome
Sullivan, K. E. (2018) · Immunological Reviews · doi:10.1111/imr.12701 · Cited by 130 · see citing works
Self-citation5p deletions: Current knowledge and future directions
Nguyen, J., Qualmann, K. J., Okashah, R. A., Reilly, A., ALEXEYEV, M. F., & Campbell, D. J. (2015) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31444 · Cited by 118 · see citing works
McDonald‐McGinn, D. M., Fahiminiya, S., Revil, T., Nowakowska, B., Suhl, J. A., Bailey, A., Mlynarski, E. E., Lynch, D. R., Yan, A. C., Bilaniuk, L. T., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101320 · Cited by 116 · see citing works
Self-citationThe Genetics and Epigenetics of 22q11.2 Deletion Syndrome
Du, Q., de la Morena, M. T., & van Oers, N. S. C. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2019.01365 · Cited by 117 · see citing works
Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms
Guna, A., Butcher, N. J., & Bassett, A. S. (2015) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-015-9113-x · Cited by 114 · see citing works
Self-citationUpdated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
Boot, E., Óskarsdóttir, S., Loo, J. C. Y., Crowley, T. B., Orchanian‐Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C. M., de Reuver, S., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.012 · Cited by 104 · see citing works
Self-citationUpdated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Óskarsdóttir, S., Boot, E., Crowley, T. B., Loo, J. C. Y., Arganbright, J. M., Armando, M., Baylis, A. L., Breetvelt, E., Castelein, R. M., Chadehumbe, M. A., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.006 · Cited by 100 · see citing works
Self-citationGur, R. E., Yi, J. J., McDonald‐McGinn, D. M., Tang, S. X., Calkins, M. E., Whinna, D. A., Souders, M. C., Savitt, A. P., Zackai, E. H., Moberg, P. J., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.189 · Cited by 96 · see citing works
Self-citationCopy Number Variants, Aneuploidies, and Human Disease
Martin, C. L., Kirkpatrick, B. E., & Ledbetter, D. H. (2015) · Clinics in Perinatology · doi:10.1016/j.clp.2015.03.001 · Cited by 94 · see citing works
Wenger, T. L., Miller, J. S., DePolo, L. M., de Marchena, A. B., Clements, C. C., Emanuel, B. S., Zackai, E. H., McDonald‐McGinn, D. M., & Schultz, R. T. (2016) · Molecular Autism · doi:10.1186/s13229-016-0090-z · Cited by 94 · see citing works
Self-citationIntubation and extubation of the ICU patient
Quintard, H., L’Her, E., Pottecher, J., Adnet, F., Constantin, J.-M., JONG, A. D., Diemunsch, P. A., Fesseau, R., Freynet, A., Girault, C., et al. (2017) · Anaesthesia Critical Care & Pain Medicine · doi:10.1016/j.accpm.2017.09.001 · Cited by 94 · see citing works
Hu, T., Tian, T., Zhang, Z., Wang, J., Hu, R. M., Xiao, L., Zhu, H., Lai, Y., Wang, H., & Liu, S. (2020) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2020.10.039 · Cited by 93 · see citing works
Genetic Syndromes associated with Congenital Heart Disease
Ko, J. M. (2015) · Korean Circulation Journal · doi:10.4070/kcj.2015.45.5.357 · Cited by 92 · see citing works
Vitamin D status and the immune assessment in 22q11.2 deletion syndrome
Legitimo, A., Bertini, V., Costagliola, G., Baroncelli, G. I., Morganti, R., Valetto, A., & Consolini, R. (2020) · Clinical & Experimental Immunology · doi:10.1111/cei.13429 · Cited by 92 · see citing works
Mok, K. Y., Sheerin, U., Simón‐Sánchez, J., Salaka, A. S., Chester, L. A., Escott‐Price, V., Mantripragada, K. K., Doherty, K. A., Noyce, A. J., Mencacci, N. E., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00071-5 · Cited by 91 · see citing works
Unolt, M., Versacci, P., Anaclerio, S., Lambiase, C., Calcagni, G., Trezzi, M., Carotti, A., Crowley, T. B., Zackai, E. H., Goldmuntz, E., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38662 · Cited by 87 · see citing works
Self-citationFunctional outcomes of adults with 22q11.2 deletion syndrome
Butcher, N. J., Chow, E. W. C., Costain, G., Karas, D. J., Ho, A., & Bassett, A. S. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.66 · Cited by 90 · see citing works
Self-citationThe importance of copy number variation in congenital heart disease
Costain, G., Silversides, C. K., & Bassett, A. S. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2016.31 · Cited by 89 · see citing works
Self-citationNeonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
Cheung, E. N. M., George, S. R., Andrade, D. M., Chow, E. W. C., Silversides, C. K., & Bassett, A. S. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.71 · Cited by 87 · see citing works
Self-citationSpeech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management
Solot, C. B., Sell, D. A., Mayne, A., Baylis, A. L., Persson, C., Jackson, O. A., & McDonald‐McGinn, D. M. (2019) · American Journal of Speech-Language Pathology · doi:10.1044/2019_ajslp-16-0147 · Cited by 86 · see citing works
Self-citation22q11 deletion syndrome: current perspective
Hacıhamdioğlu, B., Hacıhamdioğlu, D. Ö., & Delil, K. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s82105 · Cited by 85 · see citing works
Systematic analysis of copy‐number variations associated with early pregnancy loss
Wang, Y., Li, Y., Chen, Y., Zhou, R., Sang, Z., Meng, L., Tan, J., Qiao, F., Bao, Q., Luo, D., et al. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.20412 · Cited by 85 · see citing works
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome
Cheung, E. N. M., George, S. R., Costain, G. A., Andrade, D. M., Chow, E. W. C., Silversides, C., & Bassett, A. S. (2014) · Clinical Endocrinology · doi:10.1111/cen.12466 · Cited by 81 · see citing works
Self-citationTowards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Habel, A., Herriot, R., Kumararatne, D. S., Allgrove, J., Baker, K., Baxendale, H., Bu'Lock, F. A., Firth, H. V., Gennery, A. R., Holland, A. J., et al. (2014) · European Journal of Pediatrics · doi:10.1007/s00431-013-2240-z · Cited by 81 · see citing works
Self-citationBehavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome
Tang, K., Antshel, K. M., Fremont, W. P., & Kates, W. R. (2015) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0000000000000210 · Cited by 82 · see citing works
An Update on Common Chromosome Microdeletion and Microduplication Syndromes
Goldenberg, P. C. (2018) · Pediatric Annals · doi:10.3928/19382359-20180419-01 · Cited by 79 · see citing works
Self-citationResponse to clozapine in a clinically identifiable subtype of schizophrenia
Butcher, N. J., Fung, W. L. A., Fitzpatrick, L. J., Guna, A., Andrade, D. M., Lang, A. E., Chow, E. W. C., & Bassett, A. S. (2015) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.114.151837 · Cited by 74 · see citing works
Self-citationUnderstanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome
Fiksinski, A., Schneider, M., Murphy, C. M., Armando, M., Vicari, S., Morey-Canyelles, J., Gothelf, D., D, S. E. M., Breetvelt, E., Arango, C., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40387 · Cited by 73 · see citing works
Self-citationGuo, T., McDonald‐McGinn, D. M., Blonska, A. M., Shanske, A. L., Bassett, A. S., Chow, E. W. C., Bowser, M., Sheridan, M. B., Beemer, F. A., Devriendt, K., et al. (2011) · Human Mutation · doi:10.1002/humu.21568 · Cited by 72 · see citing works
Self-citationBassett, A. S., & Costain, G. (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s21953 · Cited by 71 · see citing works
Self-citationSchneider, M., Schaer, M., Mutlu, A. K., Menghetti, S., Glaser, B., Debbané, M., & D, S. E. M. (2013) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-013-0469-8 · Cited by 70 · see citing works
Deletion Syndrome 22q11.2: A Systematic Review
Cortés‐Martín, J., Peñuela, N. L., Sánchez-García, J. C., Montiel-Troya, M., Díaz‐Rodríguez, L., & Rodríguez-Blanque, R. (2022) · Children · doi:10.3390/children9081168 · Cited by 69 · see citing works
Rump, P., de Leeuw, N., van Essen, A. J., Verschuuren‐Bemelmans, C. C., Veenstra‐Knol, H. E., Swinkels, M. E. M., Oostdijk, W., Ruivenkamp, C. A. L., Reardon, W., de Munnik, S., et al. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36711 · Cited by 69 · see citing works
The SERCA2: A Gatekeeper of Neuronal Calcium Homeostasis in the Brain
Britzolaki, A., Saurine, J., Flaherty, E., Thelen, C., & Pitychoutis, P. M. (2018) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-018-0583-8 · Cited by 69 · see citing works
Association of airway abnormalities with 22q11.2 deletion syndrome
Sacca, R. E., Zur, K. B., Crowley, T. B., Zackai, E. H., Valverde, K. D., & McDonald‐McGinn, D. M. (2017) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2017.02.012 · Cited by 67 · see citing works
Self-citationFiksinski, A., Breetvelt, E., Duijff, S. N., Bassett, A. S., Kahn, R. S., & Vorstman, J. A. S. (2017) · Schizophrenia Research · doi:10.1016/j.schres.2017.01.032 · Cited by 65 · see citing works
Self-citationElucidating the diagnostic odyssey of 22q11.2 deletion syndrome
Palmer, L. D., Butcher, N. J., Boot, E., Hodgkinson, K. A., Heung, T., Chow, E. W. C., Guna, A., Crowley, T. B., Zackai, E. H., McDonald‐McGinn, D. M., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38645 · Cited by 65 · see citing works
Self-citationIs there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome?
Baker, K., & Vorstman, J. A. S. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328352dd58 · Cited by 64 · see citing works
Self-citationChun, S., Du, F., Westmoreland, J. J., Han, S. B., Wang, Y., Eddins, D. M., Bayazitov, I. T., Devaraju, P., Yu, J., Lagarde, M. M. M., et al. (2016) · Nature Medicine · doi:10.1038/nm.4240 · Cited by 64 · see citing works
Ultra high risk status and transition to psychosis in 22q11.2 deletion syndrome
Schneider, M., Armando, M., Pontillo, M., Vicari, S., Debbané, M., Schultze‐Lutter, F., & Eliez, S. (2016) · World Psychiatry · doi:10.1002/wps.20347 · Cited by 63 · see citing works
Repetto, G. M., Guzman, M., Delgado, I., Loyola, H., Palomares-Aguilera, M., Guillermo Lay-Son, R., Vial, C., Benavides, F., Espinoza, K., & Álvarez, P. (2014) · BMJ Open · doi:10.1136/bmjopen-2014-005041 · Cited by 63 · see citing works
A Role for SERCA Pumps in the Neurobiology of Neuropsychiatric and Neurodegenerative Disorders
Britzolaki, A., Saurine, J., Klocke, B., & Pitychoutis, P. M. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-12457-1_6 · Cited by 63 · see citing works
Rogdaki, M., Gudbrandsen, M., McCutcheon, R. A., Blackmore, C. E., Brugger, S. P., Ecker, C., Craig, M., Daly, E., Murphy, D., & Howes, O. D. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0638-3 · Cited by 63 · see citing works
The neural crest: A versatile organ system
Zhang, D., Ighaniyan, S., Stathopoulos, L., Rollo, B., Landman, K. A., Hutson, J., & Newgreen, D. F. (2014) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21081 · Cited by 62 · see citing works
The Genetics of Autism Spectrum Disorders – A Guide for Clinicians
Heil, K. M., & Schaaf, C. P. (2012) · Current Psychiatry Reports · doi:10.1007/s11920-012-0334-3 · Cited by 62 · see citing works
Jacquemont, S., Huguet, G., Klein, M., Chawner, S. J. R. A., Donald, K. A., van den Bree, M. B. M., Sebat, J. L., Ledbetter, D. H., Constantino, J. N., Earl, R. K., et al. (2022) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2021.21040432 · Cited by 61 · see citing works
Self-citationSubthreshold Psychotic Symptoms in 22q11.2 Deletion Syndrome
Tang, S. X., Yi, J. J., Moore, T. M., Calkins, M. E., Kohler, C. G., Whinna, D. A., Souders, M. C., Zackai, E. H., McDonald‐McGinn, D. M., Emanuel, B. S., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2014.05.009 · Cited by 61 · see citing works
Self-citationMovement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome
Boot, E., Butcher, N. J., van Amelsvoort, T., Lang, A. E., Marras, C., Pondal, M., Andrade, D. M., Fung, W. L. A., & Bassett, A. S. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36928 · Cited by 61 · see citing works
Self-citationSchindewolf, E. M., Khalek, N., Johnson, M. P., Gebb, J. S., Coleman, B. G., Crowley, T. B., Zackai, E. H., McDonald‐McGinn, D. M., & Moldenhauer, J. S. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38665 · Cited by 61 · see citing works
Self-citationPauta, M., Grande, M., Rodríguez‐Revenga, L., Kolomietz, E., & BORRELL, A. (2017) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.18929 · Cited by 60 · see citing works
Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome
Weinberger, R., Yi, J. J., Calkins, M. E., Guri, Y., McDonald‐McGinn, D. M., Emanuel, B. S., Zackai, E. H., Ruparel, K., Carmel, M., Michaelovsky, E., et al. (2016) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2016.08.003 · Cited by 59 · see citing works
Self-citationCostain, G., Chow, E. W. C., Silversides, C. K., & Bassett, A. S. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100440 · Cited by 59 · see citing works
Self-citationThe Diverse Clinical Features of Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
Maggadottir, S. M., & Sullivan, K. E. (2013) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2013.08.003 · Cited by 57 · see citing works
Self-citationNew Genetic Insights into Congenital Heart Disease
Ware, S. M., & Jefferies, J. L. (2012) · Journal of Clinical & Experimental Cardiology · doi:10.4172/2155-9880.s8-003 · Cited by 57 · see citing works
Fonseca‐Pedrero, E., Debbané, M., Schneider, M., Badoud, D., & D, S. E. M. (2015) · Psychological Medicine · doi:10.1017/s0033291715002500 · Cited by 56 · see citing works
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
Crowley, T. B., Ruffner, M. A., McDonald‐McGinn, D. M., & Sullivan, K. E. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38597 · Cited by 56 · see citing works
Self-citationHashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age
Casto, C., Pepe, G., Pomi, A. L., Corica, D., Aversa, T., & Wasniewska, M. G. (2021) · Genes · doi:10.3390/genes12020222 · Cited by 57 · see citing works
Associated syndromes in patients with Pierre Robin Sequence
Karempelis, P. S., Hagen, M., Morrell, N., & Roby, B. B. (2019) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2019.109842 · Cited by 54 · see citing works
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease
Butcher, N. J., Marras, C., Pondal, M., Rusjan, P., Boot, E., Christopher, L., Repetto, G. M., Rosemarie Fritsch, M., Chow, E. W. C., Masellis, M., et al. (2017) · Brain · doi:10.1093/brain/awx053 · Cited by 53 · see citing works
Self-citationA French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
Poirsier, C., Besseau-Ayasse, J., Schluth‐Bolard, C., Toutain, J., Missirian, C., Caignec, C. L., Bazin, A., de Blois, M. C., Kuentz, P., Catty, M., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.219 · Cited by 52 · see citing works
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
D’Angelo, C. S., Varela, M. C., de Castro, C. I. E., Otto, P. A., Pérez, A. B. A., Lourenço, C. M., Kim, C. A., Bertola, D. R., Kok, F., Garcia-Alonso, L., et al. (2018) · Molecular Cytogenetics · doi:10.1186/s13039-018-0363-7 · Cited by 51 · see citing works
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
Swillen, A., Moss, E., & Duijff, S. N. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38709 · Cited by 51 · see citing works
Self-citationZhao, Y., Guo, T., Fiksinski, A., Breetvelt, E., McDonald‐McGinn, D. M., Crowley, T. B., Diacou, A., Schneider, M., D, S. E. M., Swillen, A., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40359 · Cited by 51 · see citing works
Self-citationDevelopmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome
Cunningham, A. C., Delport, S., Cumines, W., Busse, M. E., Linden, D. E. J., Hall, J., Owen, M. J., & van den Bree, M. B. M. (2018) · The British Journal of Psychiatry · doi:10.1192/bjp.2017.6 · Cited by 50 · see citing works
Costain, G., Chow, E. W. C., Ray, P. N., & Bassett, A. S. (2011) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2011.01510.x · Cited by 50 · see citing works
Self-citationMicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome
Merico, D., Costain, G., Butcher, N. J., Warnica, W. D., Ogura, L., Alfred, S. E., Brzustowicz, L. M., & Bassett, A. S. (2014) · Frontiers in Neurology · doi:10.3389/fneur.2014.00238 · Cited by 48 · see citing works
Self-citationDevaraju, P., & Zakharenko, S. S. (2017) · BioEssays · doi:10.1002/bies.201600177 · Cited by 49 · see citing works
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2
Boot, E., Butcher, N. J., Udow, S. J., Marras, C., Mok, K. Y., Kaneko, S., Barrett, M. J., Prontera, P., Berman, B. D., Masellis, M., et al. (2018) · Neurology · doi:10.1212/wnl.0000000000005660 · Cited by 49 · see citing works
Self-citationMustillo, P., Sullivan, K. E., Chinn, I. K., Notarangelo, L. D., Haddad, É., Davies, E. G., de la Morena, M. T., Hartog, N., Yu, J. E., Hernandez-Trujillo, V. P., et al. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-022-01418-y · Cited by 48 · see citing works
Self-citationFetal phenotype associated with the 22q11 deletion
Noël, A., Pelluard, F., Delezoide, A., Devisme, L., Lœuillet, L., Leroy, B., Martin, A., Bouvier, R., Laquerrière, A., Jeanne‐Pasquier, C., et al. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36720 · Cited by 48 · see citing works
Bevilacqua, E., Jani, J. C., Chaoui, R., Suk, E. K., Palma-Dias, R. S., Ko, T. ‐., Warsof, S. L., Stokowski, R. P., Jones, K. J., Grati, F. R., et al. (2021) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.23699 · Cited by 47 · see citing works
Snider, T. N., & Mishina, Y. M. (2014) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21075 · Cited by 48 · see citing works
Predicting Cognition and Psychosis in Young Adults With 22q11.2 Deletion Syndrome
Antshel, K., Fremont, W., Ramanathan, S., & Kates, W. (2016) · Schizophrenia bulletin · doi:10.1093/schbul/sbw135 · Cited by 47 · see citing works
Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
Ousley, O., Evans, A. M., Fernàndez‐Carriba, S., Smearman, E., Rockers, K., Morrier, M. J., Evans, D. W., Coleman, K. B., & Cubells, J. F. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18051071 · Cited by 46 · see citing works
Childhood cognitive development in 22q11.2 deletion syndrome: Case–control study
Chawner, S. J. R. A., Doherty, J. L., Moss, H. M., Niarchou, M., Walters, J., Owen, M. J., & van den Bree, M. B. M. (2017) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.116.195651 · Cited by 46 · see citing works
Ravi, H., McNeill, G., Goel, S., Meltzer, S. D., Hunkapiller, N. M., Ryan, A., Levy, B., & Demko, Z. (2018) · PLoS ONE · doi:10.1371/journal.pone.0193476 · Cited by 45 · see citing works
A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders
Goodwin, J., Schoch, K., Shashi, V., Hooper, S. R., Morad, O., Zalevsky, M., Gothelf, D., & Campbell, L. (2014) · Journal of Intellectual Disability Research · doi:10.1111/jir.12151 · Cited by 44 · see citing works
- Authors
- Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., Swillen, A., & Vorstman, J.
- Affiliations
- Centre for Addiction and Mental Health (CA)
- Bambino Gesù Children's Hospital (IT)
- Cincinnati Children's Hospital Medical Center (US)
- Hospital for Sick Children (CA)
- Sapienza University of Rome (IT)
- Hôpital de la Timone (FR)
- University of Pennsylvania (US)
- KU Leuven (BE)
- Utrecht University (NL)
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2011-08
- Volume
- 159
- Issue
- 2
- Pages
- 332-339.e1
- ISSN
- 0022-3476 (ISSN-L)
- PMC
- PMC3197829
- OpenAlex
- W2099235089
- Cited by
- 597
- References
- 47
- Citations by year
- 2026: 19 · 2025: 27 · 2024: 17 · 2023: 40 · 2022: 56 · 2021: 37 · 2020: 69 · 2019: 51 · 2018: 49 · 2017: 46 · 2016: 41 · 2015: 49 · 2014: 40 · 2013: 23 · 2012: 25
- FWCI
- 17.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Pediatrics (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research Portal (King's College London) (publishedVersion, cc-by-nc-nd)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Lirias (submittedVersion, cc-by-nc-nd)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- Canadian Institutes of Health Research (79518)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- 22q11.2 deletion syndrome, clinical management, patient care guidelines, congenital heart disease, immunodeficiency, hypoparathyroidism
- MeSH terms
- Child, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Genetic Counseling, Genetic Techniques, Humans, Male, Practice Guidelines as Topic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
