Publications by authors named "Casie A Genetti"

28Publications

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.

Kidney Int Rep 2020 Aug 23;5(8):1316-1319. Epub 2020 May 23.

Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ekir.2020.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403496PMC
August 2020

Congenital Heart Defects Due to Missense Variants.

Circ Genom Precis Med 2020 Jun 12;13(3):e002843. Epub 2020 May 12.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital (S.U.M., P.B.A.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.119.002843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329268PMC
June 2020

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC
April 2020

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

Am J Med Genet A 2020 04 5;182(4):780-784. Epub 2020 Feb 5.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61498DOI Listing
April 2020

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 10 9;381(17):1644-1652. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1813279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961983PMC
October 2019

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Arch Dis Child 2020 04 4;105(4):332-338. Epub 2019 Sep 4.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2019-317910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054136PMC
April 2020

Infant mortality: the contribution of genetic disorders.

J Perinatol 2019 12 8;39(12):1611-1619. Epub 2019 Aug 8.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41372-019-0451-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879816PMC
December 2019

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Am J Hum Genet 2019 01;104(1):76-93

Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323417PMC
January 2019

Challenging the Current Recommendations for Carrier Testing in Children.

Pediatrics 2019 01;143(Suppl 1):S27-S32

Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2018-1099FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433123PMC
January 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Mol Genet Metab 2018 03 20;123(3):317-325. Epub 2017 Dec 20.

Department of Biochemistry & Molecular Biology, Genetics Institute, University of Florida College of Medicine, 1200 Newell Drive, FL 32608, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.12.433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832599PMC
March 2018

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

Pediatr Neurol 2016 11 28;64:77-79. Epub 2016 Jul 28.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223550PMC
November 2016