Publications by authors named "Louise C Pyle"

20Publications

Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.

Cancer Genet 2020 10 24;248-249:49-56. Epub 2020 Oct 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA. Electronic address:

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October 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

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January 2020

Case 2: Severe Hyperammonemia in a Neonate: An Alternate Ending.

Neoreviews 2019 02;20(2):e90-e92

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

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February 2019

Editorial Comment.

J Urol 2019 02;201(2):392

Division of Urology Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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February 2019

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

Am J Med Genet C Semin Med Genet 2017 06 25;175(2):304-314. Epub 2017 May 25.

Translational Medicine/Human Genetics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

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June 2017

Ovotestis in Adolescence: 2 Case Reports.

Urology 2017 Jul 13;105:171-174. Epub 2017 Apr 13.

Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address:

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July 2017

Genetic changes associated with testicular cancer susceptibility.

Semin Oncol 2016 Oct 20;43(5):575-581. Epub 2016 Sep 20.

Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address:

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October 2016

Response to van Rijt et al.

Genet Med 2016 12 22;18(12):1324. Epub 2016 Sep 22.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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December 2016

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Genet Med 2016 12 5;18(12):1315-1319. Epub 2016 May 5.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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December 2016

Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators.

Am J Physiol Lung Cell Mol Physiol 2011 Oct 1;301(4):L587-97. Epub 2011 Jul 1.

Departments of Genetics, University of Alabama at Birmingham, 35294-0006, USA.

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October 2011