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Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

CITE Title : Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data Personal Author(s) : Jenkins, Mary M.;Almli, Lynn M.;Pangilinan, Faith;Chong, Jessica X.;Blue, Elizabeth E.;Shapira, Stuart K.;White, Janson;McGoldrick, Daniel;Smith, Joshua D.;Mullikin, James C.;Bean, Christopher J.;Nembhard, Wendy N.;Lou, Xiang-Yang;Shaw, Gary M.;Romitti, Paul A.;Keppler-Noreuil, Kim;Yazdy, Mahsa M.;Kay, Denise M.;Carter, Tonia C.;Olshan, Andrew F.;Moore, Kristin J.;Nascone-Yoder, Nanette;Finnell, Richard H.;Lupo, Philip J.;Feldkamp, Marcia L.;Nickerson, Deborah A.;Bamshad, Michael J.;Brody, Lawrence C.;Reefhuis, Jennita; Corporate Authors(s) : NISC Comparative Sequencing Program;The University of Washington Center for Mendelian Genomics;The National Birth Defects Prevention Study; Published Date : July 21 2019;12-01-; Source : Birth Defects Res. 111(20):1618-1632 URL : https://stacks.cdc.gov/view/cdc/83053 Jenkins, Mary M. et al. (2019). Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. 111(20). Jenkins, Mary M. et al. "Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data" 111, no. 20 (2019) Jenkins, Mary M. et al. "Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data" vol. 111, no. 20, 2019 Export RIS Citation Information.

:

Jenkins, Mary M. ;

Almli, Lynn M.

July 21 2019 | Birth Defects Res. 111(20):1618-1632

:

Background:The National Birth Defects Prevention Study (NBDPS) is a multi-site, population-based, case–control study of genetic and nongenetic risk ...
Maternal Occupational Exposure to Polycyclic Aromatic Hydrocarbons: Effects on Gastroschisis among Offspring in the National Birth Defects Prevention Study

CITE Title : Maternal Occupational Exposure to Polycyclic Aromatic Hydrocarbons: Effects on Gastroschisis among Offspring in the National Birth Defects Prevention Study Personal Author(s) : Lupo, Philip J.;Langlois, Peter H.;Reefhuis, Jennita;Lawson, Christina C.;Symanski, Elaine;Desrosiers, Tania A.;Khodr, Zeina G.;Agopian, A.J.;Waters, Martha A.;Duwe, Kara N.;Finnell, Richard H.;Mitchell, Laura E.;Moore, Cynthia A.;Romitti, Paul A.;Shaw, Gary M.; Corporate Authors(s) : for the National Birth Defects Prevention Study Published Date : Feb 13 2012 Source : Environ Health Perspect. 2012; 120(6):910-915. URL : https://stacks.cdc.gov/view/cdc/10858 Lupo, Philip J. et al. (2012). Maternal Occupational Exposure to Polycyclic Aromatic Hydrocarbons: Effects on Gastroschisis among Offspring in the National Birth Defects Prevention Study. 120(6). Lupo, Philip J. et al. "Maternal Occupational Exposure to Polycyclic Aromatic Hydrocarbons: Effects on Gastroschisis among Offspring in the National Birth Defects Prevention Study" 120, no. 6 (2012) Lupo, Philip J. et al. "Maternal Occupational Exposure to Polycyclic Aromatic Hydrocarbons: Effects on Gastroschisis among Offspring in the National Birth Defects Prevention Study" vol. 120, no. 6, 2012 Export RIS Citation Information.

:

Lupo, Philip J. ;

Langlois, Peter H.

Feb 13 2012 | Environ Health Perspect. 2012; 120(6):910-915.

:

Exposure to polycyclic aromatic hydrocarbons (PAHs) occurs in many occupational settings. There is evidence in animal models that maternal exposure to...
Genome-wide investigation identifies a rare copy number variant burden associated with human spina bifida

CITE Title : Genome-wide investigation identifies a rare copy number variant burden associated with human spina bifida Personal Author(s) : Wolujewicz, Paul;Aguiar-Pulido, Vanessa;AbdelAleem, Alice;Nair, Vidya;Thareja, Gaurav;Suhre, Karsten;Shaw, Gary M.;Finnell, Richard H.;Elemento, Olivier;Ross, M. Elizabeth; Published Date : July 2021;7-2021; Source : Genet Med. 23(7):1211-1218 URL : https://stacks.cdc.gov/view/cdc/107883 Wolujewicz, Paul et al. (2021). Genome-wide investigation identifies a rare copy number variant burden associated with human spina bifida. 23(7). Wolujewicz, Paul et al. "Genome-wide investigation identifies a rare copy number variant burden associated with human spina bifida" 23, no. 7 (2021) Wolujewicz, Paul et al. "Genome-wide investigation identifies a rare copy number variant burden associated with human spina bifida" vol. 23, no. 7, 2021 Export RIS Citation Information.

:

Wolujewicz, Paul ;

Aguiar-Pulido, Vanessa

July 2021 | Genet Med. 23(7):1211-1218

:

Purpose:Next generation sequencing has implicated some risk variants for human spina bifida (SB), but the genome-wide contribution of structural varia...
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children

CITE Title : Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children Personal Author(s) : Pitsava, Georgia;Feldkamp, Marcia L.;Pankratz, Nathan;Lane, John;Kay, Denise M.;Conway, Kristin M.;Shaw, Gary M.;Reefhuis, Jennita;Jenkins, Mary M.;Almli, Lynn M.;Olshan, Andrew F.;Pangilinan, Faith;Brody, Lawrence C.;Sicko, Robert J.;Hobbs, Charlotte A.;Bamshad, Mike;McGoldrick, Daniel;Nickerson, Deborah A.;Finnell, Richard H.;Mullikin, James;Romitti, Paul A.;Mills, James L.; Corporate Authors(s) : University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study Published Date : 10 2021;10-2021; Source : Am J Med Genet A. 185(10):3028-3041 URL : https://stacks.cdc.gov/view/cdc/110271 Pitsava, Georgia et al. (2021). Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. 185(10). Pitsava, Georgia et al. "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children" 185, no. 10 (2021) Pitsava, Georgia et al. "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children" vol. 185, no. 10, 2021 Export RIS Citation Information.

:

Pitsava, Georgia ;

Feldkamp, Marcia L.

10 2021 | Am J Med Genet A. 185(10):3028-3041

:

Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but tho...
Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects

CITE Title : Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects Personal Author(s) : Dass, Nithya Lakshmi Mohan;Botto, Lorenzo D.;Tinker, Sarah C.;Canfield, Mark A.;Finnell, Richard H.;Gallaway, Michael Shayne;Hashmi, Syed Shahrukh;Hoyt, Adrienne T.;Nembhard, Wendy N.;Waller, Dorothy K.; Corporate Authors(s) : National Birth Defects Prevention Study Published Date : 9 01 2022;9-01-; Source : Birth Defects Res. 114(15):885-894 URL : https://stacks.cdc.gov/view/cdc/134149 Dass, Nithya Lakshmi Mohan et al. (2022). Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects. 114(15). Dass, Nithya Lakshmi Mohan et al. "Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects" 114, no. 15 (2022) Dass, Nithya Lakshmi Mohan et al. "Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects" vol. 114, no. 15, 2022 Export RIS Citation Information.

:

Dass, Nithya Lakshmi Mohan

;

Botto, Lorenzo D.

9 01 2022 | Birth Defects Res. 114(15):885-894

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Background:Associations between birth defects and fevers attributed to colds, influenza, and urinary tract infections (UTIs) have been observed in pre...
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida

CITE Title : Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida Personal Author(s) : Cao, Xuanye;Tian, Tian;Steele, John W.;Cabrera, Robert M.;Aguiar-Pulido, Vanessa;Wadhwa, Shruti;Bhavani, Nikitha;Bi, Patrick;Gargurevich, Nick H.;Hoffman, Ethan N.;Cai, Chun-Quan;Marini, Nicholas J.;Yang, Wei;Shaw, Gary M.;Ross, Margaret E.;Finnell, Richard H.;Lei, Yunping; Published Date : 4 2020;4-2020; Source : Hum Mutat. 41(4):786-799 URL : https://stacks.cdc.gov/view/cdc/87325 Cao, Xuanye et al. (2020). Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. 41(4). Cao, Xuanye et al. "Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida" 41, no. 4 (2020) Cao, Xuanye et al. "Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida" vol. 41, no. 4, 2020 Export RIS Citation Information.

:

Cao, Xuanye ;

Tian, Tian

4 2020 | Hum Mutat. 41(4):786-799

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DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle control, are essential for the rapid proliferation of neural proge...
Maternal-Fetal Metabolic Gene-Gene Interactions and Risk of Neural Tube Defects

CITE Title : Maternal-Fetal Metabolic Gene-Gene Interactions and Risk of Neural Tube Defects Personal Author(s) : Lupo, Philip J.;Mitchell, Laura E.;Canfield, Mark A.;Shaw, Gary M.;Olshan, Andrew F.;Finnell, Richard H.;Zhu, Huiping; Corporate Authors(s) : The National Birth Defects Prevention Study Published Date : Nov 18 2013 Source : Mol Genet Metab. 111(1):46-51. URL : https://stacks.cdc.gov/view/cdc/30382 Lupo, Philip J. et al. (2013). Maternal-Fetal Metabolic Gene-Gene Interactions and Risk of Neural Tube Defects. 111(1). Lupo, Philip J. et al. "Maternal-Fetal Metabolic Gene-Gene Interactions and Risk of Neural Tube Defects" 111, no. 1 (2013) Lupo, Philip J. et al. "Maternal-Fetal Metabolic Gene-Gene Interactions and Risk of Neural Tube Defects" vol. 111, no. 1, 2013 Export RIS Citation Information.

:

Lupo, Philip J. ;

Mitchell, Laura E.

Nov 18 2013 | Mol Genet Metab. 111(1):46-51.

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Single-gene analyses indicate that maternal genes associated with metabolic conditions (e.g., obesity) may influence the risk of neural tube defects (...
Developments in our understanding of the genetic basis of birth defects

CITE Title : Developments in our understanding of the genetic basis of birth defects Personal Author(s) : Webber, Daniel M.;MacLeod, Stewart L.;Bamshad, Michael J.;Shaw, Gary M.;Finnell, Richard H.;Shete, Sanjay S.;Witte, John S.;Erickson, Stephen W.;Murphy, Linda D.;Hobbs, Charlotte; Published Date : May 28 2015 Source : Birth Defects Res A Clin Mol Teratol. 103(8):680-691. URL : https://stacks.cdc.gov/view/cdc/32934 Webber, Daniel M. et al. (2015). Developments in our understanding of the genetic basis of birth defects. 103(8). Webber, Daniel M. et al. "Developments in our understanding of the genetic basis of birth defects" 103, no. 8 (2015) Webber, Daniel M. et al. "Developments in our understanding of the genetic basis of birth defects" vol. 103, no. 8, 2015 Export RIS Citation Information.

:

Webber, Daniel M. ;

MacLeod, Stewart L.

May 28 2015 | Birth Defects Res A Clin Mol Teratol. 103(8):680-691.

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Birth defects are a major cause of morbidity and mortality worldwide. There has been much progress in understanding the genetic basis of familial and ...
A GCH1 Haplotype and Risk of Neural Tube Defects in the National Birth Defects Prevention Study

CITE Title : A GCH1 Haplotype and Risk of Neural Tube Defects in the National Birth Defects Prevention Study Personal Author(s) : Lupo, Philip J.;Chapa, Claudia;Nousome, Darryl;Duhon, Cody;Canfield, Mark A.;Shaw, Gary M.;Finnell, Richard H.;Zhu, Huiping; Corporate Authors(s) : The National Birth Defects Prevention Study Published Date : September 25 2012 Source : Mol Genet Metab. 107(3):592-595 URL : https://stacks.cdc.gov/view/cdc/33593 Lupo, Philip J. et al. (2012). A GCH1 Haplotype and Risk of Neural Tube Defects in the National Birth Defects Prevention Study. 107(3). Lupo, Philip J. et al. "A GCH1 Haplotype and Risk of Neural Tube Defects in the National Birth Defects Prevention Study" 107, no. 3 (2012) Lupo, Philip J. et al. "A GCH1 Haplotype and Risk of Neural Tube Defects in the National Birth Defects Prevention Study" vol. 107, no. 3, 2012 Export RIS Citation Information.

:

Lupo, Philip J. ;

Chapa, Claudia

September 25 2012 | Mol Genet Metab. 107(3):592-595

:

Tetrahydrobiopterin (BH(4)) is an essential cofactor and an important cellular antioxidant. BH(4) deficiency has been associated with diseases whose e...
Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997–2011

CITE Title : Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997–2011 Personal Author(s) : Waller, Dorothy Kim;Hashmi, Syed Shahrukh;Hoyt, Adrienne T.;Duong, Hao T.;Tinker, Sarah C.;Gallaway, Michael Shayne;Olney, Richard S.;Finnell, Richard H.;Hecht, Jacqueline Tauber;Canfield, Mark A.; Corporate Authors(s) : National Birth Defects Prevention Study Published Date : November 02 2017 Source : Birth Defects Res. 110(4):342-351 URL : https://stacks.cdc.gov/view/cdc/52159 Waller, Dorothy Kim et al. (2017). Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997–2011. 110(4). Waller, Dorothy Kim et al. "Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997–2011" 110, no. 4 (2017) Waller, Dorothy Kim et al. "Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997–2011" vol. 110, no. 4, 2017 Export RIS Citation Information.

:

Waller, Dorothy Kim ;

Hashmi, Syed Shahrukh

November 02 2017 | Birth Defects Res. 110(4):342-351

:

BackgroundAs maternal fever affects approximately 6–8% of early pregnancies, it is important to expand upon previous observations of an association ...
Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida

CITE Title : Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida Personal Author(s) : Lei, Yunping;Zhu, Huiping;Duhon, Cody;Yang, Wei;Ross, M. Elizabeth;Shaw, Gary M.;Finnell, Richard H.; Published Date : Jul 26 2013 Source : PLoS One. 2013; 8(7). URL : https://stacks.cdc.gov/view/cdc/22582 Lei, Yunping et al. (2013). Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida. 8(7). Lei, Yunping et al. "Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida" 8, no. 7 (2013) Lei, Yunping et al. "Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida" vol. 8, no. 7, 2013 Export RIS Citation Information.

:

Lei, Yunping ;

Zhu, Huiping

Jul 26 2013 | PLoS One. 2013; 8(7).

:

Neural tube defects (NTDs) (OMIM #182940) including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect ...
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study

CITE Title : Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study Personal Author(s) : Blue, Elizabeth E.;Moore, Kristin J.;North, Kari E.;Desrosiers, Tania A.;Carmichael, Suzan L.;White, Janson J.;Chong, Jessica X.;Bamshad, Michael J.;Jenkins, Mary M.;Almli, Lynn M.;Brody, Lawrence C.;Freedman, Sharon F.;Reefhuis, Jennita;Romitti, Paul A.;Shaw, Gary M.;Werler, Martha;Kay, Denise M.;Browne, Marilyn L.;Feldkamp, Marcia L.;Finnell, Richard H.;Nembhard, Wendy N.;Pangilinan, Faith;Olshan, Andrew F.; Corporate Authors(s) : National Institutes of Health Intramural Sequencing Center;University of Washington Center for Mendelian Genomics;National Birth Defects Prevention Study; Published Date : 7 2024;7-2024; Source : Birth Defects Res. 116(7):e2384 URL : https://stacks.cdc.gov/view/cdc/158695 Blue, Elizabeth E. et al. (2024). Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. 116(7). Blue, Elizabeth E. et al. "Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study" 116, no. 7 (2024) Blue, Elizabeth E. et al. "Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study" vol. 116, no. 7, 2024 Export RIS Citation Information.

:

Blue, Elizabeth E. ;

Moore, Kristin J.

7 2024 | Birth Defects Res. 116(7):e2384

:

Background:Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (US). PCG has a autosomal recess...
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

CITE Title : 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 Personal Author(s) : Sok, Pagna;Sabo, Aniko;Almli, Lynn M.;Jenkins, Mary M.;Nembhard, Wendy N.;Agopian, A. J.;Bamshad, Michael J.;Blue, Elizabeth E.;Brody, Lawrence C.;Brown, Austin L.;Browne, Marilyn L.;Canfield, Mark A.;Carmichael, Suzan L.;Chong, Jessica X.;Dugan-Perez, Shannon;Feldkamp, Marcia L.;Finnell, Richard H.;Gibbs, Richard A.;Kay, Denise M.;Lei, Yunping;Meng, Qingchang;Moore, Cynthia A.;Mullikin, James C.;Muzny, Donna;Olshan, Andrew F.;Pangilinan, Faith;Reefhuis, Jennita;Romitti, Paul A.;Schraw, Jeremy M.;Shaw, Gary M.;Werler, Martha M.;Harpavat, Sanjiv;Lupo, Philip J.; Corporate Authors(s) : University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study Published Date : 6 2023;6-2023; Source : Am J Med Genet A. 191(6):1546-1556 URL : https://stacks.cdc.gov/view/cdc/151757 Sok, Pagna et al. (2023). 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. 191(6). Sok, Pagna et al. "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" 191, no. 6 (2023) Sok, Pagna et al. "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" vol. 191, no. 6, 2023 Export RIS Citation Information.

:

Sok, Pagna

;

Sabo, Aniko

6 2023 | Am J Med Genet A. 191(6):1546-1556

:

The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data fr...
Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia

CITE Title : Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia Personal Author(s) : Li, Jingjing;Yang, Wei;Wang, Yuejun Jessie;Ma, Chen;Curry, Cynthia J.;McGoldrick, Daniel;Nickerson, Deborah A.;Chong, Jessica X.;Blue, Elizabeth E.;Mullikin, James C.;Reefhuis, Jennita;Nembhard, Wendy N.;Romitti, Paul A.;Werler, Martha M.;Browne, Marilyn L.;Olshan, Andrew F.;Finnell, Richard H.;Feldkamp, Marcia L.;Pangilinan, Faith;Almli, Lynn M.;Bamshad, Mike J.;Brody, Lawrence C.;Jenkins, Mary M.;Shaw, Gary M.; Corporate Authors(s) : NISC Comparative Sequencing Program;University of Washington Center for Mendelian Genomics;National Birth Defects Prevention Study; Published Date : 8 2022;8-2022; Source : Am J Med Genet A. 188(8):2376-2388 URL : https://stacks.cdc.gov/view/cdc/119397 Li, Jingjing et al. (2022). Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia. 188(8). Li, Jingjing et al. "Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia" 188, no. 8 (2022) Li, Jingjing et al. "Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia" vol. 188, no. 8, 2022 Export RIS Citation Information.

:

Li, Jingjing ;

Yang, Wei

8 2022 | Am J Med Genet A. 188(8):2376-2388

:

Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence ...
Exome sequencing identifies variants in infants with sacral agenesis

CITE Title : Exome sequencing identifies variants in infants with sacral agenesis Personal Author(s) : Pitsava, Georgia;Feldkamp, Marcia L.;Pankratz, Nathan;Lane, John;Kay, Denise M.;Conway, Kristin M.;Hobbs, Charlotte;Shaw, Gary M.;Reefhuis, Jennita;Jenkins, Mary M.;Almli, Lynn M.;Moore, Cynthia;Werler, Martha;Browne, Marilyn L.;Cunniff, Chris;Olshan, Andrew F.;Pangilinan, Faith;Brody, Lawrence C.;Sicko, Robert J.;Finnell, Richard H.;Bamshad, Michael J.;McGoldrick, Daniel;Nickerson, Deborah A.;Mullikin, James C.;Romitti, Paul A.;Mills, James L.; Corporate Authors(s) : UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Published Date : 4 2022;4-2022; Source : Birth Defects Res. 114(7):215-227 URL : https://stacks.cdc.gov/view/cdc/119844 Pitsava, Georgia et al. (2022). Exome sequencing identifies variants in infants with sacral agenesis. 114(7). Pitsava, Georgia et al. "Exome sequencing identifies variants in infants with sacral agenesis" 114, no. 7 (2022) Pitsava, Georgia et al. "Exome sequencing identifies variants in infants with sacral agenesis" vol. 114, no. 7, 2022 Export RIS Citation Information.

:

Pitsava, Georgia ;

Feldkamp, Marcia L.

4 2022 | Birth Defects Res. 114(7):215-227

:

BackgroundSacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects...
for spina bifida

CITE Title : for spina bifida Personal Author(s) : Han, Xiao;Cao, Xuanye;Aguiar-Pulido, Vanessa;Yang, Wei;Karki, Menuka;Ramirez, Paula Andrea Pimienta;Cabrera, Robert M.;Lin, Ying Linda;Wlodarczyk, Bogdan J.;Shaw, Gary M.;Ross, M. Elizabeth;Zhang, Cuilian;Finnell, Richard H.;Lei, Yunping; Published Date : 12 2022 Source : Hum Mutat. 43(12):2021-2032 URL : https://stacks.cdc.gov/view/cdc/123021 Han, Xiao et al. (2022). for spina bifida. 43(12). Han, Xiao et al. "for spina bifida" 43, no. 12 (2022) Han, Xiao et al. "for spina bifida" vol. 43, no. 12, 2022 Export RIS Citation Information.

:

Han, Xiao ;

Cao, Xuanye

12 2022 | Hum Mutat. 43(12):2021-2032

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Neural tube defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genet...