Jennifer A Wambach

Jennifer A Wambach

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Jennifer A Wambach

Jennifer A Wambach

Publications by authors named "Jennifer A Wambach"

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28Publications

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A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.

Am J Respir Crit Care Med 2019 Oct;200(8):961-962

Department of PediatricsJohns Hopkins University School of MedicineBaltimore, Maryland.

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http://dx.doi.org/10.1164/rccm.201906-1102EDDOI Listing
October 2019

Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.

Bone 2019 Jul 23;124:14-21. Epub 2019 Mar 23.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.bone.2019.03.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551519PMC
July 2019

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth.

Am J Perinatol 2018 Apr 28;35(5):494-502. Epub 2017 Nov 28.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis Children's Hospital, St. Louis, Missouri.

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http://dx.doi.org/10.1055/s-0037-1608804DOI Listing
April 2018

Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.

World J Pediatr 2018 02 6;14(1):52-56. Epub 2018 Feb 6.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.

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http://dx.doi.org/10.1007/s12519-017-0109-3DOI Listing
February 2018

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

J Pediatr 2017 05 16;184:157-164.e2. Epub 2017 Feb 16.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443678PMC
May 2017

Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants.

J Pediatr 2016 05 28;172:69-74.e2. Epub 2016 Feb 28.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.01.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876036PMC
May 2016

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.

Am J Med Genet A 2015 Dec 19;167A(12):2966-74. Epub 2015 Aug 19.

Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37296DOI Listing
December 2015

New clinical practice guidelines on the classification, evaluation and management of childhood interstitial lung disease in infants: what do they mean?

Expert Rev Respir Med 2014 Dec 20;8(6):653-5. Epub 2014 Aug 20.

Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1586/17476348.2014.951334DOI Listing
December 2014

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

J Pediatr 2014 Jun 20;164(6):1316-21.e3. Epub 2014 Mar 20.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476140014
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http://dx.doi.org/10.1016/j.jpeds.2014.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035386PMC
June 2014

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Am J Respir Crit Care Med 2014 Jun;189(12):1538-43

1 Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1164/rccm.201402-0342OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226019PMC
June 2014

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Pediatrics 2012 Dec 19;130(6):e1575-82. Epub 2012 Nov 19.

Division of Newborn Medicine, The Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110.

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http://dx.doi.org/10.1542/peds.2012-0918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507255PMC
December 2012

An intronic ABCA3 mutation that is responsible for respiratory disease.

Pediatr Res 2012 Jun 15;71(6):633-7. Epub 2012 Feb 15.

Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/pr.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607324PMC
June 2012

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

Pediatr Res 2010 Sep;68(3):216-20

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, 660 South Euclid, St. Louis, MO 63110, USA.

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http://www.nature.com/doifinder/10.1203/PDR.0b013e3181eb5d68
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http://dx.doi.org/10.1203/PDR.0b013e3181eb5d68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921462PMC
September 2010

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.

Pediatr Pulmonol 2008 May;43(5):443-50

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ppul.20782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765708PMC
May 2008