Paper · 7901419

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Goldmuntz E and 6 others. J Med Genet, 1993. Cited by 191 papers, by iCite.

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ConductScience Library. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Papers, record 7901419. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/7901419

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.; PubMed
Journal: J Med Genet; PubMed
Year: 1993; PubMed
Publication types: Journal Article, Research Support, U.S. Gov't, P.H.S.; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/7901419/; PubMed
DOI: https://doi.org/10.1136/jmg.30.10.807; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC1016559/; PubMed
The journal: https://conductscience.org/library/journal-index/2985087R; PubMed
Citations, by iCite: 191; iCite
Relative citation ratio, by iCite: 4.86; iCite
Revised in PubMed: 2019-05-03; PubMed

Authors7

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename
1	Goldmuntz E	E
2	Driscoll D	D
3	Budarf ML	M L
4	Zackai EH	E H
5	McDonald-McGinn DM	D M
6	Biegel JA	J A
7	Emanuel BS	B S

Source PubMed

Topics14

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Chromosome Deletion	Major topic
Chromosomes, Human, Pair 22	Major topic
Heart Defects, Congenital	Major topic
Abnormalities, Multiple
Blotting, Southern
Cleft Palate
DiGeorge Syndrome
Gene Deletion
Humans
In Situ Hybridization, Fluorescence
Infant
Polymorphism, Restriction Fragment Length
Syndrome
Velopharyngeal Insufficiency

Source PubMed

Grants2

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes it	Agency	Country	NIH project	Stated by	Source
CA39926	NCI NIH HHS	United States	R01CA039926	PubMed and NIH	NIH RePORTER
HG00425	NHGRI NIH HHS	United States	P50HG000425	PubMed and NIH	NIH RePORTER

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References28

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	1,680,800	Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.	Genomics	1991	https://conductscience.org/library/papers/1680800	PubMed
2	2,045,103	Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.	Genomics	1991	https://conductscience.org/library/papers/2045103	PubMed
3	1,355,155	Deletions within chromosome 22q11 in familial congenital heart disease.	Lancet	1992	https://conductscience.org/library/papers/1355155	PubMed
4	1,360,769	Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.	Am J Med Genet	1992	https://conductscience.org/library/papers/1360769	PubMed
5	8,434,616	Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.	Am J Med Genet	1993	https://conductscience.org/library/papers/8434616	PubMed
6	8,230,155	Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.	J Med Genet	1993	https://conductscience.org/library/papers/8230155	PubMed
7	1,195,397	Detection of specific sequences among DNA fragments separated by gel electrophoresis.	J Mol Biol	1975	https://conductscience.org/library/papers/1195397	PubMed
8	272,242	A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.	Cleft Palate J	1978	https://conductscience.org/library/papers/272242	PubMed
9	685,815	Truncus arteriosus in a family.	Am Heart J	1978	https://conductscience.org/library/papers/685815	PubMed
10	448,529	The spectrum of the DiGeorge syndrome.	J Pediatr	1979	https://conductscience.org/library/papers/448529	PubMed

1 to 10 of 28

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Cited by48

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 191 citations.

PMID	Title	Journal	Year	In Papers	Source
41,360,439	Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.	Clin Genet	2026	https://conductscience.org/library/papers/41360439	PubMed
38,618,720	Buffering Mechanism in Aortic Arch Artery Formation and Congenital Heart Disease.	Circ Res	2024	https://conductscience.org/library/papers/38618720	PubMed
38,050,519	22q11.2 Deletion Syndrome Diagnosed 47 Years After Surgery for Tetralogy of Fallot.	Cureus	2023	https://conductscience.org/library/papers/38050519	PubMed
31,976,137	The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.	J Pediatr Genet	2020	https://conductscience.org/library/papers/31976137	PubMed
31,768,578	Risk Factors and Outcomes of Tetralogy of Fallot: From Fetal to Neonatal Life.	Pediatr Cardiol	2020	https://conductscience.org/library/papers/31768578	PubMed
30,380,194	Molecular genetics of 22q11.2 deletion syndrome.	Am J Med Genet A	2018	https://conductscience.org/library/papers/30380194	PubMed
30,244,528	22q and two: 22q11.2 deletion syndrome and coexisting conditions.	Am J Med Genet A	2018	https://conductscience.org/library/papers/30244528	PubMed
29,520,463	22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.	Pediatr Cardiol	2018	https://conductscience.org/library/papers/29520463	PubMed
29,509,905	Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.	Hum Mol Genet	2018	https://conductscience.org/library/papers/29509905	PubMed
28,346,476	Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.	PLoS Genet	2017	https://conductscience.org/library/papers/28346476	PubMed

1 to 10 of 48

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Genes0

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None in this release.

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

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PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

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ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

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ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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