Patrick Yap

发表

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1

P. Yap, T. Burgess, T. Tan, 2016, Pediatric blood & cancer.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Clara Gaff, Alicia Oshlack, Peter Georgeson, 2017, JAMA pediatrics.

Patient safety in genomic medicine: an exploratory study

Clara Gaff, Dylan Mordaunt, Alicia Oshlack, 2016, Genetics in Medicine.

Emerging targeted drug therapies in skeletal dysplasias

R. Savarirayan, P. Yap, Patrick Yap, 2016, American journal of medical genetics. Part A.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations

N. Brown, N. Niikawa, N. Matsumoto, 2016, Clinical genetics.

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

P. Lockhart, Z. Stark, G. McGillivray, 2017, American journal of medical genetics. Part A.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

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

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer

S. Robertson, C. Print, C. Blenkiron, 2018 .

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

D. Amor, J. Liebelt, R. Savarirayan, 2016, American Journal of Medical Genetics. Part A.

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

H. Scott, A. Schreiber, C. Barnett, 2020, Journal of Medical Genetics.

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

N. Brown, Natalie B Tan, D. Phelan, 2020, Molecular genetics & genomic medicine.

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

P. Farlie, P. Yap, T. Tan, 2016, Molecular Syndromology.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

C. Print, C. Blenkiron, S. Grimmond, 2017, bioRxiv.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

O. Mäkitie, C. Kim, K. Wierenga, 2019, Bone.

L. Pasquier, T. Dudding-Byth, C. Shoubridge, 2022, Clinical genetics.

Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome

G. O'grady, E. England, Juliet Taylor, 2022, American journal of medical genetics. Part A.

A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata

D. Purvis, Kuang-Chih Hsiao, M. Watson, 2022, Pediatric dermatology.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

C. Print, C. Blenkiron, S. Grimmond, 2018, npj Genomic Medicine.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

M. Shaw, J. Gécz, M. Brudno, 2021, European Journal of Human Genetics.

An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia

M. Greenslade, H. Evans, M. Strauss, 2021, Journal of pediatric hematology/oncology.

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

Austen R. D. Ganley, R. Heller, F. Bloomfield, 2021, American journal of medical genetics. Part A.

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

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

L. Kornman, Z. Stark, G. McGillivray, 2015, Prenatal diagnosis.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.