The DOI matches its Crossref record; 45 of the 47 references it cites were found in a registry or an index.
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.
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In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
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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
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
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
Shaikh, T. H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.489 · Cited by 531
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
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
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
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
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
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
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Cervical spinal cord compression in children and adolescents with 22q11.2 deletion syndrome
Boxem, J. A., Houben, M. L., Ecker, M. L., Schwartz, E. S., Schlösser, T. P. C., Zackai, E., Crowley, T. B., van der Molen, A. B. M., McDonald‐McGinn, D. M., & Tucker, A. M. (2026) · Brain and Spine · doi:10.1016/j.bas.2026.107480
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Metadata
- 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
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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
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