Publications by authors named "Patrick Yap"

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Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, Nobuhiko Okamoto, Mei Yan Chan, Patrick Yap

J Hum Genet· December 2025

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The phenotypic spectrum of syndromic optic atrophy associated with variants in : with reclassification of p.Val606Gly as a likely benign variant.
Sarah Hull, Leo Sheck, Geoff Braatvedt, Frances Mouat, Craig Jefferies, Patrick Yap

Ophthalmic Genet· August 2025

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Molecular diagnosis of 405 individuals with autism spectrum disorder.
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Patrick Yap

Eur J Hum Genet· December 2024

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Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
Denis M Nyaga, Peter Tsai, Clare Gebbie, Hui Hui Phua, Patrick Yap

NPJ Genom Med· November 2024

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New treatments for children with achondroplasia.
Ravi Savarirayan, Julie Hoover-Fong, Patrick Yap, Svein O Fredwall

Lancet Child Adolesc Health· April 2024

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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Patrick Yap, Lisa G Riley, Purvi M Kakadia, Stefan K Bohlander, Ben Curran

Eur J Hum Genet· January 2024

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Zelha Nil, Ashish R Deshwar, Yan Huang, Scott Barish, Xi Zhang, Patrick Yap

Am J Hum Genet· November 2023

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Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Salam Alburaiky, Juliet Taylor, Gina O'Grady, Glen Thomson, David Perry, Patrick Yap

Am J Med Genet A· August 2022

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IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Cheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, Himanshu Goel, Patrick Yap

Clin Genet· July 2022

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An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia.
Asher Henry, Vivek Rajasekaran, Helen M Evans, Magreet Strauss, Rakesh Patel, Patrick Yap

J Pediatr Hematol Oncol· April 2022

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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Kristina Sibbin, Patrick Yap, Denis Nyaga, Raoul Heller, Stephen Evans

Am J Med Genet A· April 2022

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A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.
Helen Gordon, Patrick Yap, Kuang-Chih Hsiao, Michael Watson, Diana Purvis

Pediatr Dermatol· March 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Patrick Yap

Genet Med· January 2022

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Patrick Yap

Eur J Hum Genet· September 2021

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Patrick Yap

Genet Med· February 2021

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Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Patrick Yap

Genet Med· November 2020

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Natalie B Tan, Rachel Stapleton, Zornitza Stark, Martin B Delatycki, Alison Yeung, Patrick Yap

Mol Genet Genomic Med· November 2020

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Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng

J Med Genet· July 2020

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Patrick Yap

J Hum Genet· December 2019

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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Patrick Yap

Genet Med· April 2019

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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Alice Costantini, Helena Valta, Nissan Vida Baratang, Patrick Yap, Débora R Bertola

Bone· April 2019

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Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.
Ben Lawrence, Cherie Blenkiron, Kate Parker, Peter Tsai, Sandra Fitzgerald, Patrick Yap

NPJ Genom Med· July 2018

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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, Jacqueline A C Goos, Melissa M Lees, Patrick Yap

Am J Hum Genet· June 2018

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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, Patrick Yap

Am J Hum Genet· November 2017

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Patrick Yap

JAMA Pediatr· September 2017

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