Patrick Yap

Patrick Yap

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Patrick Yap

Patrick Yap

Publications by authors named "Patrick Yap"

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15Publications

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Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

J Med Genet 2020 Jan 27. Epub 2020 Jan 27.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia

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http://dx.doi.org/10.1136/jmedgenet-2019-106700DOI Listing
January 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

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

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Mol Syndromol 2016 Nov 29;7(6):312-321. Epub 2016 Oct 29.

Victorian Clinical Genetics Service, Royal Children's Hospital, University of Melbourne, Parkville, Vic., Australia; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1159/000450533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131330PMC
November 2016

Emerging targeted drug therapies in skeletal dysplasias.

Am J Med Genet A 2016 10 7;170(10):2596-604. Epub 2016 May 7.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37734DOI Listing
October 2016

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.

Am J Med Genet A 2016 May 11;170A(5):1363-6. Epub 2016 Jan 11.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37548DOI Listing
May 2016

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

Pediatr Blood Cancer 2016 Apr 30;63(4):706-8. Epub 2015 Oct 30.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/pbc.25812DOI Listing
April 2016

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.

Prenat Diagn 2015 Dec 14;35(12):1265-7. Epub 2015 Oct 14.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/pd.4690DOI Listing
December 2015