Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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

22q11.2 deletion syndrome

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Clinical guidelines: Developing guidelines

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Shaikh, T. H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.489 · Cited by 531

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

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

Clinical 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

The 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

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Rauch, 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

Relationship between parent-reported gastrointestinal symptoms, sleep problems, autism spectrum disorder symptoms, and behavior problems in children and adolescents with 22q11.2 deletion syndrome

Leader, G., Murray, M., O’Súilleabháin, P. S., Maher, L., Naughton, K., Arndt, S., White, K., Traina, I., & Mannion, A. (2020) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2020.103698 · Cited by 18

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Karbarz, M. (2020) · Genes · doi:10.3390/genes11090977 · Cited by 20

Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome

Kelley, L. K., Sanders, A. F. P., & Beaton, E. A. (2016) · Journal of Developmental Origins of Health and Disease · doi:10.1017/s2040174416000428 · Cited by 21

Otologic and Audiologic Outcomes in Pediatric Patients With Velo-Cardio-Facial (22q11 Deletion) Syndrome

Weir, F. W., Wallace, S. A., White, D. R., Hatch, J. L., Nguyen, S. A., & Meyer, T. A. (2016) · Otology & Neurotology · doi:10.1097/mao.0000000000001226 · Cited by 18

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease

Farrell, M. S., Lichtenstein, M. L., Crowley, J. J., Filmyer, D. M., Lázaro‐Muñoz, G., Shaughnessy, R. A., Mackenzie, I. R., Hirsch‐Reinshagen, V., Stowe, R., Evans, J. P., et al. (2018) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2017.17060638 · Cited by 17

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome

Li, S., Han, X., Ye, M., Chen, S., Shen, Y., Niu, J., Wang, Y., & Xu, C. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00813 · Cited by 17

Reflections of parents of children with 22q11.2 Deletion Syndrome on the experience of receiving psychiatric genetic counseling: ‘Awareness to Act’

Carrion, P. B., Semaka, A., Batallones, R., Slomp, C., Morris, E. M., Inglis, A. J., Moretti, M. M., & Austin, J. (2021) · Journal of Genetic Counseling · doi:10.1002/jgc4.1460 · Cited by 18

High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic

Goldenberg, P. C., Adler, B. J., Parrott, A., Anixt, J. S., Mason, K., Phillips, J. M., Cooper, D. S., Ware, S. M., & Marino, B. S. (2016) · Cardiology in the Young · doi:10.1017/s104795111600072x · Cited by 17

Favorable effects of omega-3 polyunsaturated fatty acids in attentional control and conversion rate to psychosis in 22q11.2 deletion syndrome

Armando, M., Ciampoli, M., Padula, M. C., Amminger, G. P., Crescenzo, F. D., Maeder, J., Schneider, M., Schaer, M., Managò, F., Eliez, S., et al. (2020) · Neuropharmacology · doi:10.1016/j.neuropharm.2020.107995 · Cited by 17

No age effect in the prevalence and clinical significance of ultra-high risk symptoms and criteria for psychosis in 22q11 deletion syndrome: Confirmation of the genetically driven risk for psychosis?

Armando, M., Schneider, M., Pontillo, M., Vicari, S., Debbané, M., Schultze‐Lutter, F., & Eliez, S. (2017) · PLoS ONE · doi:10.1371/journal.pone.0174797 · Cited by 17

Reading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review

Blasi, F. D. D., Buono, S., Città, S., Costanzo, A. A., & Zoccolotti, P. (2018) · Brain Sciences · doi:10.3390/brainsci8080146 · Cited by 16

Negative and paranoid symptoms are associated with negative performance beliefs and social cognition in 22q11.2 deletion syndrome

Schneider, M., der Linden, M. V., Menghetti, S., Debbané, M., & D, S. E. M. (2015) · Early Intervention in Psychiatry · doi:10.1111/eip.12224 · Cited by 16

Noninvasive Prenatal Testing: The Indian Perspective

Verma, I. C. (2014) · Journal of Fetal Medicine · doi:10.1007/s40556-014-0025-8 · Cited by 16

Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Guzman, M., Delgado, I., Guillermo Lay-Son, R., Willans, E., PUGA, A. R., & Repetto, G. M. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35525 · Cited by 16

Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross‐sectional survey in Japan

Morishima, R., Kumakura, Y., Usami, S., Kanehara, A., Tanaka, M., Okochi, N., Nakajima, N., Hamada, J., Ogawa, T., Ando, S., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62485 · Cited by 15

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

Vaz, S., Pires, R., Pires, L. M., Carreira, I. M., Anjos, R. T., Maciel, P. E. D. O., & Mota‐Vieira, L. (2015) · BMC Pediatrics · doi:10.1186/s12887-015-0417-5 · Cited by 15

Provision of Cardiovascular Genetic Counseling Services: Current Practice and Future Directions

Somers, A. E., Ware, S. M., Collins, K., Jefferies, J. L., He, H., & Miller, E. M. (2014) · Journal of Genetic Counseling · doi:10.1007/s10897-014-9719-2 · Cited by 15

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

Bassett, A. S., Costain, G., & Marshall, C. R. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4935 · Cited by 17

The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis

Homans, J. F., de Reuver, S., Heung, T., Silversides, C. K., Oechslin, E. N., Houben, M. L., McDonald‐McGinn, D. M., Kruyt, M. C., Castelein, R. M., & Bassett, A. S. (2020) · The Spine Journal · doi:10.1016/j.spinee.2020.01.006 · Cited by 15

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

Morris, E. M., Inglis, A. J., Friedman, J. M., & Austin, J. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.31 · Cited by 15

Immunological features of 22q11 deletion syndrome

Gennery, A. R. (2013) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000027 · Cited by 15

Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion

Vigneswaran, T. V., Kametas, N. A., Zinevich, Y., Bataeva, R. S., Allan, L. D., & Zidere, V. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14832 · Cited by 15

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

Keser, V., Lachance, J.-F. B., Alam, S. S., Lim, Y., Scarlata, E., Kaur, A., Zhang, T. F., Lv, S., Lachapelle, P., O’Flaherty, C., et al. (2019) · Communications Biology · doi:10.1038/s42003-019-0601-5 · Cited by 15

Psychiatric genetic counseling for people with copy number variants associated with psychiatric conditions

Morris, E. M., Inglis, A. J., & Austin, J. (2022) · Clinical Genetics · doi:10.1111/cge.14210 · Cited by 13

Non‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review

Buijs, P. C. M., Bassett, A. S., & Boot, E. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38612 · Cited by 14

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

Martín‐Nalda, A., Cueto-González, A. M., Ramírez, A. A., Marín-Soria, J. L., Martínez‐Gallo, M., Colobrán, R., Plaja, A., Castells, N., Riviere, J. G., Tizzano, E. F., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1016 · Cited by 14

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome

Hickey, S. E., Kellogg, B. C., O’Brien, M., Hall, C., Kirschner, R. E., Santoro, S. L., Leonard, H., & Baylis, A. L. (2020) · The Cleft Palate-Craniofacial Journal · doi:10.1177/1055665620947985 · Cited by 14

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

Cárdenas-Nieto, D., Forero‐Castro, M., Esteban-Pérez, C. I., Martínez, J., & Briceño, I. (2019) · Journal of Pediatric Genetics · doi:10.1055/s-0039-1698804 · Cited by 13

22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis

de Reuver, S., Homans, J. F., Schlösser, T. P. C., Houben, M. L., Deeney, V. F. X., Crowley, T. B., Stücker, R., Pasha, S., Kruyt, M. C., McDonald‐McGinn, D. M., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10214823 · Cited by 13

Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot

Bassett, A. S., Reuter, M. S., Malecki, S. L., Silversides, C., & Oechslin, E. N. (2023) · CJC Pediatric and Congenital Heart Disease · doi:10.1016/j.cjcpc.2023.10.002 · Cited by 14

Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II

Haneveld, M. J. K., Hieltjes, I. J., Langendam, M. W., Cornel, M. C., Gaasterland, C. M. W., & van Eeghen, A. M. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101071 · Cited by 15

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome

BENN, P. A., Iyengar, S., Crowley, T. B., Zackai, E. H., Burrows, E. K., Moshkevich, S., McDonald‐McGinn, D. M., Sullivan, K. E., & Demko, Z. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.310 · Cited by 13

Club foot in association with the 22q11.2 deletion syndrome: An observational study

Homans, J. F., Crowley, T. B., Chen, E. Y., McGinn, D. E., Deeney, V. F. X., Sakkers, R. J. B., Davidson, R. S., Castelein, R. M., & McDonald‐McGinn, D. M. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40649 · Cited by 13

Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center

Sivrikoz, T. S., Başaran, S., Has, R., Karaman, B., Kalelioğlu, İ., KIRGIZ, M., Altunoğlu, U., & Yüksel, A. (2021) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-021-06125-4 · Cited by 13

Parental Expressed Emotion, Parenting Stress, and Behavioral Problems of Young Children with 22q11.2 Deletion Syndrome and Idiopathic Autism Spectrum Disorder

Serur, Y., Sher‐Censor, E., Sofrin-Frumer, D., Daon, K., Sobol-Havia, D., Weinberger, R., Shulman, C., & Gothelf, D. (2022) · Child Psychiatry & Human Development · doi:10.1007/s10578-021-01310-7 · Cited by 13

Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome

Ousley, O., Smearman, E., Fernàndez‐Carriba, S., Rockers, K., Coleman, K., Walker, E. F., & Cubells, J. F. (2013) · European Psychiatry · doi:10.1016/j.eurpsy.2013.06.002 · Cited by 16

Genetic Counseling, Activism and ‘Genotype‐First’ Diagnosis of Developmental Disorders

Navon, D. (2012) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9515-9 · Cited by 13

Post-childhood Presentation and Diagnosis of DiGeorge Syndrome

Friedman, N., Rienstein, S., Yeshayahu, Y., Gothelf, D., & Somech, R. (2015) · Clinical Pediatrics · doi:10.1177/0009922815591090 · Cited by 13

22q11 deletion syndrome: Parents’ and children’s experiences of educational and healthcare provision in the United Kingdom

Cohen, W., McCartney, E., & Crampin, L. (2017) · Journal of Child Health Care · doi:10.1177/1367493516686203 · Cited by 13

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome

Suksawat, Y., Sathienkijkanchai, A., Veskitkul, J., Jirapongsananuruk, O., Visitsunthorn, N., Vichyanond, P., & Pacharn, P. (2017) · Journal of Clinical Immunology · doi:10.1007/s10875-017-0394-6 · Cited by 13

Rapid Maxillary Expansion Treatment in Patients with Cleft Lip and Palate: A Survey on Clinical Experience in the European Cleft Centers

Khdairi, N., Halilah, T., Khandakji, M. N., & Bartzela, T. N. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12093159 · Cited by 12

Childhood predictors of written expression in late adolescents with 22q11.2 deletion syndrome: a longitudinal study

Hamsho, N. F., Antshel, K. M., Eckert, T. L., & Kates, W. R. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12370 · Cited by 12

Expression of schizophrenia biomarkers in extraocular muscles from patients with strabismus: an explanation for the link between exotropia and schizophrenia?

Agarwal, A. B., Christensen, A. J., Feng, C.-Y., Wen, D., Johnson, L. A., & von Bartheld, C. S. (2017) · PeerJ · doi:10.7717/peerj.4214 · Cited by 12

Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient’s perspective

de Woestyne, K. V., Vandensande, A., Vansteelandt, K., Maes, B., Vergaelen, E., & Swillen, A. (2021) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-021-01822-6 · Cited by 12

Proceedings of the Canadian Society of Allergy and Clinical Immunology Annual Scientific Meeting 2021

Clark, B., Bornais, J., Miller, S., & Liem, J. (2022) · Allergy Asthma and Clinical Immunology · doi:10.1186/s13223-022-00647-5 · Cited by 12

Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease

Márquez-Ávila, C. S., Vizcaíno-Alarcón, A., García‐Delgado, C., Nuñez-Martínez, P. M., Flores-Ramírez, F., la Rosa, A. D. P. R.-D., Mendelsberg-Fishbein, P., Ibarra-Grajeda, D., Medina‐Bravo, P., Balderrábano-Saucedo, N., et al. (2015) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2015.08.038 · Cited by 12

Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome

Lin, T., Hsieh, T., Cheng, P., Hung, T., Chan, K.-S., Tsai, C., & Shaw, S. W. (2021) · Fetal Diagnosis and Therapy · doi:10.1159/000519057 · Cited by 12

Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease

Ogaki, K., & Ross, O. A. (2014) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2014.06.020 · Cited by 11

Feeding and Swallowing Issues in Infants With Craniofacial Anomalies

Miller, C. K., & Madhoun, L. L. (2016) · Perspectives of the ASHA Special Interest Groups · doi:10.1044/persp1.sig5.13 · Cited by 11

NRG1 knockdown rescues PV interneuron GABAergic maturation deficits and schizophrenia behaviors in fetal growth restriction mice

Dong, J., Chen, W., Liu, N., Chang, S., Zhu, W., & Kang, J. (2022) · Cell Death Discovery · doi:10.1038/s41420-022-01271-3 · Cited by 12

Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations

Soster, E. L., Dyr, B., Rafalko, J. M., Almasri, E., & Cacheris, P. M. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1146669 · Cited by 11

The 22q11.2 deletion syndrome as a model for idiopathic scoliosis – A hypothesis

Homans, J. F., de Reuver, S., Breetvelt, E., Vorstman, J. A. S., Deeney, V. F. X., Flynn, J. M. “., McDonald‐McGinn, D. M., Kruyt, M. C., & Castelein, R. M. (2019) · Medical Hypotheses · doi:10.1016/j.mehy.2019.03.024 · Cited by 11

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases

Budișteanu, M., Jurcă, M. C., Papuc, S. M., Focșa, I. O., Riga, D., Riga, S., Jurcă, A. D., & Arghir, A. (2020) · Open Life Sciences · doi:10.1515/biol-2020-0003 · Cited by 12

Chromosome 22q11.2 Deletion Syndrome

Pereira, E. M., & Marion, R. (2015) · Pediatrics in Review · doi:10.1542/pir.36-6-270 · Cited by 11

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

Yoo, D.-Y., Kim, H. J., Cho, K. H., Kwon, E. B., & Yoo, E.-G. (2017) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2017.22.2.133 · Cited by 11

Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report

Cazzolla, A. P., Lacaita, M. G., Lacarbonara, V., Zhurakivska, K., Franco, A. D., Gissi, I., Testa, N. F., Marzo, G., & Muzio, L. L. (2019) · Special Care in Dentistry · doi:10.1111/scd.12381 · Cited by 11

Textbook of Medical Psychiatry

Silbersweig, D., Muskin, P. R., & Querques, J. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869 · Cited by 11

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomesPreprint

Maxwell, E. K., Packer, J. S., O’Dushlaine, C. T., McCarthy, S., Hare-Harris, A. E., Staples, J. C., Gonzaga-Jauregui, C. G., Fetterolf, S. N., Faucett, W. A., Leader, J. B., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/119461 · Cited by 12

Acceptance and Commitment Therapy in Genetic Counselling: A Case Study of Recurrent Worry.

Broley, S. (2013) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9558-y · Cited by 10

Sleep profiles in children with 22q deletion syndrome: a study of 100 consecutive children seen in a multidisciplinary clinic

Ingram, D. G., Raje, N., & Arganbright, J. M. (2022) · Journal of Clinical Sleep Medicine · doi:10.5664/jcsm.10238 · Cited by 10

miR-9-5p deficiency contributes to schizophrenia

Fu, X., Baranova, A. V., Cao, H., Liu, Y., Sun, J., & Zhang, F. (2023) · Schizophrenia Research · doi:10.1016/j.schres.2023.11.006 · Cited by 10

Translational Study of Copy Number Variations in Schizophrenia

Cheng, M.-C., Chien, W., Huang, Y., Fang, T.-H., & Chen, C. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms23010457 · Cited by 10

Prevalence and treatment of psychiatric disorders other than psychosis in children and adolescents with 22q11DS: Examining associations with social and role functioning

Armando, M., Lin, A. P., Pontillo, M., & Vicari, S. (2017) · Psychiatry Research · doi:10.1016/j.psychres.2017.04.019 · Cited by 10

Parents’ perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS)

Cook, C. B., Slomp, C., & Austin, J. (2021) · Journal of Community Genetics · doi:10.1007/s12687-021-00558-9 · Cited by 10

Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood

Kotcher, R. E., Chait, D. B., Heckert, J. M., Crowley, T. B., Forde, K. A., Ahuja, N. K., Mascarenhas, M. R., Emanuel, B. S., Zackai, E. H., McDonald‐McGinn, D. M., et al. (2022) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000003491 · Cited by 10

Negotiating blame and responsibility in the context of a “de novo” mutation

Dimond, R. (2014) · New Genetics and Society · doi:10.1080/14636778.2014.910450 · Cited by 10

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

Ockeloen, C. W., Simpson, J., Urquhart, J. E., Davies, J., Bowden, M., Patrick, K., Dore, J., & Clayton‐Smith, J. (2013) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-304484 · Cited by 10

Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2

Van, L., Heung, T., Reyes, N. G. D., Boot, E., Chow, E. W. C., Corral, M. R., & Bassett, A. S. (2024) · The Canadian Journal of Psychiatry · doi:10.1177/07067437241293983 · Cited by 10

The systemic effects of 22q11.2 deletion syndrome on immunity

van Oers, N. S. C., & Sullivan, K. E. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250190 · Cited by 10

Cleft Lip and Palate

Friedman, O., Wang, T. D., & Milczuk, H. A. (2010) · Elsevier eBooks · doi:10.1016/b978-0-323-05283-2.00187-7 · Cited by 9

Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome

Zafarullah, M., Angkustsiri, K., Quach, A., Yeo, S., Durbin-Johnson, B. P., Bowling, H. L., & Tassone, F. (2024) · Metabolomics · doi:10.1007/s11306-024-02088-0 · Cited by 9

Signs of dysarthria in adults with 22q11.2 deletion syndrome

Persson, C., Laakso, K., Edwardsson, H., Lindblom, J., & Hartelius, L. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38038 · Cited by 9

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

Grand, K., Katz, L. E. L., Crowley, T. B., Moss, E., Lessig, M. K., Bamba, V., Lord, K., Zackai, E. H., Emanuel, B. S., Valverde, K. D., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40535 · Cited by 10

An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis

Silva, I. M. W., & Gil‐da‐Silva‐Lopes, V. L. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02225-9 · Cited by 9

Intubation et extubation du patient de réanimation

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Bernard–Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome

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Complement Activation in 22q11.2 Deletion Syndrome

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Essentials of Cardiology

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22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

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predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: A prospective study

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Parkinson’s disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome

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Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome

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P112: Updated clinical practice guidelines for managing children and adults with 22q11.2 deletion syndrome*

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\nRelevance of deletion breakpoint specification in 22q11.2 deletion syndrome: Clinical management of three illustrative patiens

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Thyroid disease in children with 22q11.2 deletion syndrome

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