CDC-Authored Genomics and Precision Health Publications Database
Last data update: Jan 27, 2025. (Total: 6504 publications)
Query Trace: Reefhuis J[original query] |
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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 |
Maternal exposure to tap water disinfection by-products and risk of selected congenital heart defects
Michalski AM , Luben TJ , Zaganjor I , Rhoads A , Romitti PA , Conway KM , Langlois PH , Feldkamp ML , Nembhard WN , Reefhuis J , Yazdy MM , Lin AE , Desrosiers TA , Hoyt AT , Browne ML . Birth Defects Res 2024 116 (9) e2391 |
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study
Blue EE , Moore KJ , North KE , Desrosiers TA , Carmichael SL , White JJ , Chong JX , Bamshad MJ , Jenkins MM , Almli LM , Brody LC , Freedman SF , Reefhuis J , Romitti PA , Shaw GM , Werler M , Kay DM , Browne ML , Feldkamp ML , Finnell RH , Nembhard WN , Pangilinan F , Olshan AF . Birth Defects Res 2024 116 (7) e2384 |
Real world data are not always big data: The case for primary data collection on medication use in pregnancy in the context of birth defects research
Ailes EC , Werler MM , Howley MM , Jenkins MM , Reefhuis J . Am J Epidemiol 2024 |
Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study-United States, 1997-2007.
Glidewell J , Reefhuis J , Rasmussen SA , Woomert A , Hobbs C , Romitti PA , Crider KS . Genet Med 2014 16 (4) 329-37 |
Neighborhood deprivation and neural tube defects
Pruitt Evans S , Ailes EC , Kramer MR , Shumate CJ , Reefhuis J , Insaf TZ , Yazdy MM , Carmichael SL , Romitti PA , Feldkamp ML , Neo DT , Nembhard WN , Shaw GM , Palmi E , Gilboa SM . Epidemiology 2023 34 (6) 774-785 |
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
Blue EE , White JJ , Dush MK , Gordon WW , Wyatt BH , White P , Marvin CT , Helle E , Ojala T , Priest JR , Jenkins MM , Almli LM , Reefhuis J , Pangilinan F , Brody LC , McBride KL , Garg V , Shaw GM , Romitti PA , Nembhard WN , Browne ML , Werler MM , Kay DM , Mital S , Chong JX , Nascone-Yoder NM , Bamshad MJ . HGG Adv 2023 4 (4) 100232 |
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P , Sabo A , Almli LM , Jenkins MM , Nembhard WN , Agopian AJ , Bamshad MJ , Blue EE , Brody LC , Brown AL , Browne ML , Canfield MA , Carmichael SL , Chong JX , Dugan-Perez S , Feldkamp ML , Finnell RH , Gibbs RA , Kay DM , Lei Y , Meng Q , Moore CA , Mullikin JC , Muzny D , Olshan AF , Pangilinan F , Reefhuis J , Romitti PA , Schraw JM , Shaw GM , Werler MM , Harpavat S , Lupo PJ . Am J Med Genet A 2023 191 (6) 1546-1556 |
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Li J , Yang W , Wang YJ , Ma C , Curry CJ , McGoldrick D , Nickerson DA , Chong JX , Blue EE , Mullikin JC , Reefhuis J , Nembhard WN , Romitti PA , Werler MM , Browne ML , Olshan AF , Finnell RH , Feldkamp ML , Pangilinan F , Almli LM , Bamshad MJ , Brody LC , Jenkins MM , Shaw GM . Am J Med Genet A 2022 188 (8) 2376-2388 |
Is maternal employment site a source of exposure misclassification in studies of environmental exposures and birth outcomes? A simulation-based bias analysis of haloacetic acids in tap water and hypospadias.
Zaganjor I , Keil AP , Luben TJ , Desrosiers TA , Engel LS , Reefhuis J , Michalski AM , Langlois PH , Olshan AF . Environ Epidemiol 2022 6 (2) e207 |
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G , Feldkamp ML , Pankratz N , Lane J , Kay DM , Conway KM , Hobbs C , Shaw GM , Reefhuis J , Jenkins MM , Almli LM , Moore C , Werler M , Browne ML , Cunniff C , Olshan AF , Pangilinan F , Brody LC , Sicko RJ , Finnell RH , Bamshad MJ , McGoldrick D , Nickerson DA , Mullikin JC , Romitti PA , Mills JL . Birth Defects Res 2022 114 (7) 215-227 |
Modeling complex effects of exposure to particulate matter and extreme heat during pregnancy on congenital heart defects: A U.S. population-based case-control study in the National Birth Defects Prevention Study.
Simmons W , Lin S , Luben TJ , Sheridan SC , Langlois PH , Shaw GM , Reefhuis J , Romitti PA , Feldkamp ML , Nembhard WN , Desrosiers TA , Browne ML , Stingone JA . Sci Total Environ 2021 808 152150 |
Multiple Variants of SARS-CoV-2 in a University Outbreak After Spring Break - Chicago, Illinois, March-May 2021.
Doyle K , Teran RA , Reefhuis J , Kerins JL , Qiu X , Green SJ , Choi H , Madni SA , Kamal N , Landon E , Albert RC , Pacilli M , Furtado LE , Hayden MK , Kunstman KJ , Bethel C , Megger L , Fricchione MJ , Ghinai I . MMWR Morb Mortal Wkly Rep 2021 70 (35) 1195-1200 ![]() |
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G , Feldkamp ML , Pankratz N , Lane J , Kay DM , Conway KM , Shaw GM , Reefhuis J , Jenkins MM , Almli LM , Olshan AF , Pangilinan F , Brody LC , Sicko RJ , Hobbs CA , Bamshad M , McGoldrick D , Nickerson DA , Finnell RH , Mullikin J , Romitti PA , Mills JL . Am J Med Genet A 2021 185 (10) 3028-3041 |
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011.
Tinker SC , Gilboa SM , Moore CA , Waller DK , Simeone RM , Kim SY , Jamieson DJ , Botto LD , Reefhuis J . Am J Obstet Gynecol 2019 222 (2) 176 e1-176 e11 |
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
Jenkins MM , Almli LM , Pangilinan F , Chong JX , Blue EE , Shapira SK , White J , McGoldrick D , Smith JD , Mullikin JC , Bean CJ , Nembhard WN , Lou XY , Shaw GM , Romitti PA , Keppler-Noreuil K , Yazdy MM , Kay DM , Carter TC , Olshan AF , Moore KJ , Nascone-Yoder N , Finnell RH , Lupo PJ , Feldkamp ML , Nickerson DA , Bamshad MJ , Brody LC , Reefhuis J . Birth Defects Res 2019 111 (20) 1618-1632 |
Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene-environment interactions.
Jenkins MM , Reefhuis J , Herring AH , Honein MA . Genet Epidemiol 2017 41 (8) 834-843 |
Zika virus disease in Colombia - preliminary report
Pacheco O , Beltran M , Nelson CA , Valencia D , Tolosa N , Farr SL , Padilla AV , Tong VT , Cuevas EL , Espinosa-Bode A , Pardo L , Rico A , Reefhuis J , Gonzalez M , Mercado M , Chaparro P , Martinez Duran M , Rao CY , Munoz MM , Powers AM , Cuellar C , Helfand R , Huguett C , Jamieson DJ , Honein MA , Ospina Martinez ML . N Engl J Med 2016 383 (6) e44 |
Challenges in Studying Modifiable Risk Factors for Birth Defects.
Tinker SC , Gilboa S , Reefhuis J , Jenkins MM , Schaeffer M , Moore CA . Curr Epidemiol Rep 2015 2 (1) 23-30 |
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
Jenkins MM , Reefhuis J , Gallagher ML , Mulle JG , Hoffmann TJ , Koontz DA , Sturchio C , Rasmussen SA , Witte JS , Richter P , Honein MA . Am J Med Genet A 2014 164A (6) 1454-63 |
Estimate of the potential impact of folic acid fortification of corn masa flour on the prevention of neural tube defects.
Tinker SC , Devine O , Mai C , Hamner HC , Reefhuis J , Gilboa SM , Dowling NF , Honein MA . Birth Defects Res A Clin Mol Teratol 2013 97 (10) 649-57 |
Maternal occupational exposure to polycyclic aromatic hydrocarbons: effects on gastroschisis among offspring in the National Birth Defects Prevention Study
Lupo PJ , Langlois PH , Reefhuis J , Lawson CC , Symanski E , Desrosiers TA , Khodr ZG , Agopian AJ , Waters MA , Duwe KN , Finnell RH , Mitchell LE , Moore CA , Romitti PA , Shaw GM . Environ Health Perspect 2012 120 (6) 910-5 |
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