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CDC-Authored Genomics and Precision Health Publications Database|Home|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

CDC-Authored Genomics and Precision Health Publications Database


Rare Diseases

Last data update: Jan 21, 2025. (Total: 6495 publications)
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Records 1-3 (of 3 Records)
Query Trace: Craniosynostosis[original query]
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Nicoletti P , Zafer S , Matok L , Irron I , Patrick M , Haklai R , Evangelista JE , Marino GB , Ma'ayan A , Sewda A , Holmes G , Britton SR , Lee WJ , Wu M , Ru Y , Arnaud E , Botto L , Brody LC , Byren JC , Caggana M , Carmichael SL , Cilliers D , Conway K , Crawford K , Cuellar A , Di Rocco F , Engel M , Fearon J , Feldkamp ML , Finnell R , Fisher S , Freudlsperger C , Garcia-Fructuoso G , Hagge R , Heuzé Y , Harshbarger RJ , Hobbs C , Howley M , Jenkins MM , Johnson D , Justice CM , Kane A , Kay D , Gosain AK , Langlois P , Legal-Mallet L , Lin AE , Mills JL , Morton JEV , Noons P , Olshan A , Persing J , Phipps JM , Redett R , Reefhuis J , Rizk E , Samson TD , Shaw GM , Sicko R , Smith N , Staffenberg D , Stoler J , Sweeney E , Taub PJ , Timberlake AT , Topczewska J , Wall SA , Wilson AF , Wilson LC , Boyadjiev SA , Wilkie AOM , Richtsmeier JT , Jabs EW , Romitti PA , Karasik D , Birnbaum RY , Peter I .
Genet Med Open 2024 2
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Justice CM , Cuellar A , Bala K , Sabourin JA , Cunningham ML , Crawford K , Phipps JM , Zhou Y , Cilliers D , Byren JC , Johnson D , Wall SA , Morton JEV , Noons P , Sweeney E , Weber A , Rees KEM , Wilson LC , Simeonov E , Kaneva R , Yaneva N , Georgiev K , Bussarsky A , Senders C , Zwienenberg M , Boggan J , Roscioli T , Tamburrini G , Barba M , Conway K , Sheffield VC , Brody L , Mills JL , Kay D , Sicko RJ , Langlois PH , Tittle RK , Botto LD , Jenkins MM , LaSalle JM , Lattanzi W , Wilkie AOM , Wilson AF , Romitti PA , Boyadjiev SA .
Hum Genet 2020 139 (8) 1077-1090
Genome-wide association studies of structural birth defects: A review and commentary.
Lupo PJ , Mitchell LE , Jenkins MM .
Birth Defects Res 2019 111 (18) 1329-1342
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