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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: May 03, 2024
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The relation between clinically diagnosed and parent-reported feeding difficulties in children with and without clefts.
Iris A C de Vries et al. European journal of pediatrics 2023
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Brazilian Multiethnic Association Study of Genetic Variant Interactions among FOS, CASP8, MMP2 and CRISPLD2 in the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate.
Machado Renato Assis et al. Dentistry journal 2023 11(1)
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Association Between Proton Pump Inhibitor Use During Early Pregnancy and Risk of Congenital Malformations.
Choi Ahhyung et al. JAMA network open 2023 6(1) e2250366
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Genome-wide analysis of copy number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lansdon Lisa A et al. American journal of human genetics 2022
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Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst Nina et al. Molecular genetics & genomic medicine 2022 e2109
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The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Askarian Saeedeh et al. Oral and maxillofacial surgery 2022
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Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Alam Mohammad Khursheed et al. Scientific reports 2022 12(1) 5708
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Clinical aspects of 22q11.2 microdeletion syndrome
Szumutku Fanni et al. Orvosi hetilap 2022 163(1) 21-30
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Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.
Falsaperla Raffaele et al. Journal of pediatric genetics 2021 10(3) 173-193
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Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen.
Horn Philippa et al. Journal of speech, language, and hearing research : JSLHR 2021 1-9
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Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
Lu Meng et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2021 10556656211037509
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Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.
Nissan Ella et al. The Journal of pediatrics 2021
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The International Family Study of Nonsyndromic Orofacial Clefts: Design and Methods.
Auslander Allyn et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2021 10556656211018956
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Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
Velázquez-Aragón José A et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020 Dec 1055665620980238
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Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.
Yang Yunju et al. Genes 2020 Oct 11(11)
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CRISPLD2 Gene Polymorphisms with Nonsyndromic Cleft Lip Palate in Indian Population.
Neela Praveen Kumar et al. Global medical genetics 2020 Jun 7(1) 22-25
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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up and management.
Altassan Ruqaiah et al. Journal of inherited metabolic disease 2020 Jul
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Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian-randomization study.
Dardani Christina et al. International journal of epidemiology 2020 May
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Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu Haisong et al. Molecular medicine reports 2019 May 19(5) 3831-3840
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CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft.
Zhang Shi-Jian et al. Genomics, proteomics & bioinformatics 2018 16(5) 354-364
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Delivering effective genetic services for patients and families affected by cleft lip and/or palate.
Stock Nicola Marie et al. European journal of human genetics : EJHG 2019 Jan
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Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing.
et al. American journal of medical genetics. Part A 2018 Jun 176(6) 1280-1282
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Consumer DNA testing promises more than it delivers
TH Sae, Science News, May 22, 2018
Epidemiology of orofacial clefts in a Danish county over 35 years - Before and after implementation of a prenatal screening programme for congenital anomalies.
Paaske Eva Berenth et al. European journal of medical genetics 2018 May
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Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Basha Mirta et al. Journal of medical genetics 2018 Mar
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Development of a 22q11DS psycho-educational programme: exploration of the views, concerns and educational needs of parents caring for children or adolescents with 22q11DS in relation to mental health issues.
Alugo T et al. Child: care, health and development 2017 Mar
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Genetic Screening in Patients with Craniofacial Malformations.
Yoon Amanda J et al. Journal of pediatric genetics 2016 Dec 5(4) 220-224
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Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
van der Post Rachel S et al. Journal of medical genetics 2015 Jun 52(6) 361-74
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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