Rebekah Jobling

Rebekah Jobling

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Rebekah Jobling

Rebekah Jobling

Publications by authors named "Rebekah Jobling"

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19Publications

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Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Am J Med Genet A 2019 Jul 9;179(7):1325-1329. Epub 2019 May 9.

Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61162DOI Listing
July 2019

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.

ERJ Open Res 2019 Apr 26;5(2). Epub 2019 Apr 26.

Dept of Paediatrics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1183/23120541.00205-2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484094PMC
April 2019

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Mol Genet Metab Rep 2019 Mar 20;18:11-13. Epub 2018 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2018.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304431PMC
March 2019

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda) 2015 Jul 2;5(8):1775-81. Epub 2015 Jul 2.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Pediatrics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1534/g3.115.019851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333PMC
July 2015

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Neurology 2014 Mar 19;82(11):963-8. Epub 2014 Feb 19.

From Metabolics and Newborn Screening (M.A.L.), University of Ottawa, Children's Hospital of Eastern Ontario; Clinical and Metabolic Genetics (R.J.), and The Centre for Applied Genomics and Program in Genetics and Genome Biology (C.R.M., S.W.S.), The Hospital for Sick Children, Toronto; Neuromuscular and Neuorometabolic Disorders (L.B., M.A.T.), and Department of Ophthalmology (A.R.R.), McMaster University, Hamilton; Department of Molecular Genetics, McLaughlin Centre (C.R.M., S.W.S.), and Division of Neurology, Sunnybrook Health Sciences Centre (L.L.), University of Toronto; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease (A.E.L., T.A.M.), Toronto Western Hospital, Canada; and Laboratory Genetic Metabolic Diseases (R.J.A.W., S.F.), Academic Medical Center, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963001PMC
March 2014

The collagenopathies: review of clinical phenotypes and molecular correlations.

Curr Rheumatol Rep 2014 Jan;16(1):394

Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11926-013-0394-3DOI Listing
January 2014

The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt.

Clin Dysmorphol 2013 Oct;22(4):152-5

Divisions of aClinical and Metabolic Genetics bNephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000007DOI Listing
October 2013

Monozygotic twins with variable expression of Van der Woude syndrome.

Am J Med Genet A 2011 Aug 7;155A(8):2008-10. Epub 2011 Jul 7.

Faculty of Medicine, University of Calgary, Calgary, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140610PMC
August 2011