Publications by authors named "Rachel C Lombardo"

7Publications

A Jittery Newborn With an Abnormal Newborn Screen.

Clin Pediatr (Phila) 2019 10 12;58(11-12):1354-1356. Epub 2019 Aug 12.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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October 2019

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.

Am J Med Genet A 2019 06 20;179(6):1010-1014. Epub 2019 Mar 20.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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June 2019

Neonatal Lung Disease Associated with TBX4 Mutations.

J Pediatr 2019 03 7;206:286-292.e1. Epub 2018 Nov 7.

Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address:

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March 2019

Congenital lumbar hernia-A feature of diabetic embryopathy?

Am J Med Genet A 2018 11 1;176(11):2243-2249. Epub 2018 Oct 1.

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.

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November 2018

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.

Genet Med 2018 12 15;20(12):1538-1543. Epub 2018 Mar 15.

Division of Human Genetics, Cincinnati Children's Hospital and Medical Center, Cincinnati, Ohio, USA.

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December 2018

Variable phenotype in a novel mutation in PHOX2B.

Am J Med Genet A 2017 Jun 19;173(6):1705-1709. Epub 2017 Apr 19.

Division of Human Genetics, Cincinnati Children's Hospital and Medical Center, Cincinnati, Ohio.

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June 2017