Lesley Mcgregor

发表

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

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

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

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review

M. Corbett, Sui Yu, J. Nicholl, 2013, American journal of medical genetics. Part A.

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

L. Pérez-Jurado, E. Souzeau, J. Craig, 2020, American journal of medical genetics. Part A.

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

K. Friend, E. Haan, J. Mulley, 2014, Pathology.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

A. Wagner, R. Kuiper, M. Ligtenberg, 2018, Clinical Cancer Research.

Australian guidelines for the management of children with achondroplasia

S. Broley, A. Zankl, R. Savarirayan, 2023, Journal of paediatrics and child health.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Paediatric genomic testing: Navigating medicare rebatable genomic testing

J. Beilby, G. Baynam, Y. Berman, 2021, Journal of paediatrics and child health.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

K. Friend, E. Haan, J. Mulley, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

Seizures in 3‐month‐old infant when placed on stomach

M. Harbord, Lesley Mcgregor, Ray Farley, 2018, Journal of paediatrics and child health.

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Lesley Mcgregor, Rosalie R. Kenyon, Song Gao, 2024, The Australian & New Zealand journal of obstetrics & gynaecology.