A. Wallace

发表

Molecular diagnosis of spinal muscular atrophy

H. Stewart, A. Wallace, J. Mcgaughran, 1998, Archives of disease in childhood.

A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype

A. Wallace, P. Caruso, A. Karaa, 2019, Journal of Pediatric Genetics.

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

J. Clayton-Smith, L. Boyes, K. Chrzanowska, 2006, European journal of medical genetics.

Neurofibromatosis type 2 discordance in monozygous twins

D. Evans, A. Wallace, S. Tobi, 2020, Familial Cancer.

Two unique patients with trisomy 18 mosaicism and molecular marker studies

L. Gaunt, A. Slavotinek, A. Wallace, 2003, American journal of medical genetics. Part A.

Malignant hyperthermia—a large kindred linked to the RYR1 gene

M. Harrison, A. Wallace, H. Kingston, 1996, Anaesthesia.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity

A. Green, D. Hughes, A. Wallace, 2013, Familial Cancer.

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004 .