Publications by authors named "Katelyn Payne"

20Publications

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.

Case Rep Neurol 2020 May-Aug;12(2):165-168. Epub 2020 Jun 9.

Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

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http://dx.doi.org/10.1159/000507954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315177PMC
June 2020

Goals for Persistent Postconcussive Symptom Treatment From Adolescent and Parent Perspectives.

JAMA Pediatr 2020 May 11. Epub 2020 May 11.

Seattle Children's Research Institute Center for Child Health, Behavior, and Development, Seattle, Washington.

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http://dx.doi.org/10.1001/jamapediatrics.2020.0898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7215623PMC
May 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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http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042489PMC
January 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Approach to Assessment of Parkinson Disease with Emphasis on Genetic Testing.

Med Clin North Am 2019 Nov 31;103(6):1055-1075. Epub 2019 Aug 31.

Indiana University School of Medicine, 355 West 16th Street, Suite 4700, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1016/j.mcna.2019.08.003DOI Listing
November 2019

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

2019 02 14;179(2):300-305. Epub 2018 Dec 14.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60698
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http://dx.doi.org/10.1002/ajmg.a.60698DOI Listing
February 2019

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.

J Child Neurol 2018 12 12;33(14):925-929. Epub 2018 Oct 12.

2 Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1177/0883073818802724DOI Listing
December 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018