Katherine Neas

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.1kcitations37works0.02yr avg
OpenAlex↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Congenital heart defects research(8), RNA modifications and cancer(7), Genomics and Rare Diseases(7), Genomic variations and chromosomal abnormalities(5), Neurogenetic and Muscular Disorders Research(5)

Publications37 total

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
2026Open Access
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
European Journal of Human Genetics·2023· 8 citedOpen Access
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
American Journal of Medical Genetics Part A·2022· 11 citedOpen Access
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<scp>CDH</scp>+) using <scp>DECIPHER</scp> data
American Journal of Medical Genetics Part A·2022· 8 citedOpen Access
Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand
Australasian Journal of Dermatology·2021· 13 cited
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
Neurology Genetics·2021· 30 citedOpen Access
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
The American Journal of Human Genetics·2020· 24 citedOpen Access
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability
Journal of Human Genetics·2020· 20 cited
A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders (2006)
Neurology·2020· 1 cited
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
American Journal of Medical Genetics Part A·2020· 19 cited
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Human Mutation·2019· 85 citedOpen Access
Spinocerebellar Ataxia type 29 in a family of Māori descent
Cerebellum & Ataxias·2019· 6 citedOpen Access
Development of a cardiac inherited disease service and clinical registry: A 15-year perspective
American Heart Journal·2018· 14 cited
Currarino syndrome with two synchronous presacral teratomas
Journal of Pediatric Surgery Case Reports·2018· 3 citedOpen Access
A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer
Journal of the Royal Society of New Zealand·2018· 5 cited
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
Wellcome Open Research·2018· 107 citedOpen Access
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity
Journal of Medical Genetics·2017· 72 citedOpen Access
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defects
Journal of Medical Genetics·2017· 36 cited
Detection of sudden death syndromes in New Zealand.
PubMed·2016· 7 cited
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
Neuromuscular Disorders·2016· 63 cited
page 1 of 2Next →

Frequent Co-authors

Gemma Poke(6), Donald R. Love(5), Jonathan R. Skinner(4), Jackie Crawford(4), Ian Hayes(4), Nataliya Di Donato(4), Jill A. Rosenfeld(4), Andrew Aitken(3), Kathie J. Ngo(3), Brent L. Fogel(3), Michael Parker(3), Mark R. Davis(3), Nicole Chia(3), Claire Bénéteau(3), Giovanni Battista Ferrero(3), Chad A. Shaw(3), Daryl A. Scott(3), Andrew N. Shelling(2), Jeroen Breckpot(2), Peter D. Turnpenny(2)