Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

CDC-Authored Genomics and Precision Health Publications Database|Home|PHGKB

CDC-Authored Genomics and Precision Health Publications Database


Last data update: Sep 18, 2023. (Total: 4409 publications since 2011)
   dataset
Filtered By:
Records 1-15 (of 15 Records)
Query Trace: Reefhuis J[original query]
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
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 type
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 Mary M, Reefhuis Jennita, Herring Amy H, Honein Margaret A. Genetic epidemiology 2017 Dec 41(8) 834-843 .
Genetic epidemiology 2017 Dec 41(8) 834-843
Challenges in Studying Modifiable Risk Factors for Birth Defects.
Tinker Sarah C, Gilboa Suzanne, Reefhuis Jennita, Jenkins Mary M, Schaeffer Marcy, Moore Cynthia A. Curr Epidemiol Rep 2015 Mar 2(1) 23-30 .
Curr Epidemiol Rep 2015 Mar 2(1) 23-30
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
Jenkins Mary M, Reefhuis Jennita, Gallagher Margaret L, Mulle Jennifer G, Hoffmann Thomas J, Koontz Deborah A, Sturchio Cynthia, Rasmussen Sonja A, Witte John S, Richter Patricia, Honein Margaret A, . Am. J. Med. Genet. A 2014 Jun 164A(6) 1454-63 .
Am. J. Med. Genet. A 2014 Jun 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 Sarah C, Devine Owen, Mai Cara, Hamner Heather C, Reefhuis Jennita, Gilboa Suzanne M, Dowling Nicole F, Honein Margaret A. Birth defects research. Part A, Clinical and molecular teratology 2013 Oct 97(10) 649-57 .
Birth defects research. Part A, Clinical and molecular teratology 2013 Oct 97(10) 649-57
Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study-United States, 1997-2007.
Glidewell Jill, Reefhuis Jennita, Rasmussen Sonja A, Woomert Alison, Hobbs Charlotte, Romitti Paul A, Crider Krista S. Genet. Med. 2014 Apr 16(4) 329-37 .
Genet. Med. 2014 Apr 16(4) 329-37
TOP