K. Low

发表

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

C. Pantaleoni, F. Natacci, E. Cattaneo, 2022, International journal of molecular sciences.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

B. V. van Bon, R. Pfundt, G. Carvill, 2021, American journal of human genetics.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

J. Clayton-Smith, S. Ellard, K. Stals, 2018, European Journal of Human Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

R. Newbury-Ecob, K. Low, 2012, Clinical dysmorphology.

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

R. Newbury-Ecob, K. Low, C. Buxton, 2015, Clinical dysmorphology.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

K. Devriendt, H. Van Esch, R. Newbury-Ecob, 2019, American journal of human genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

R. Rosch, M. A. Basson, Z. Tümer, 2021, Clinical genetics.

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

K. Weiss, S. Smithson, S. Maitz, 2020, Frontiers in Neurology.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

A. Fry, T. Rinne, M. Parker, 2020, Human mutation.

A splice‐site variant in ANKRD11 associated with classical KBG syndrome

S. McKee, S. Smithson, A. Hills, 2017, American journal of medical genetics. Part A.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

L. Vissers, R. Pfundt, O. Devinsky, 2021, medRxiv.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

S. Ellard, J. Baptista, R. Caswell, 2019, European journal of medical genetics.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

R. Newbury-Ecob, K. Low, James Smith, 2013, American journal of medical genetics. Part A.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

Expanding the phenotypic spectrum of Chromosome16p13.11 microduplication: A multicentric analysis of 206 patients.

C. Mercer, R. McGowan, J. Carmichael, 2023, European journal of medical genetics.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

W. Reardon, J. Christodoulou, U. Engelke, 2023, Journal of inherited metabolic disease.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

D. Baralle, N. Whiffin, J. Rankin, 2023, medRxiv.

Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.

J. Barton, E. Crowne, S. Abdel-Fattah, 2017, Clinical dysmorphology.

A case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat PHOX2B mutation

A. Donaldson, T. Hilliard, M. Williams, 2014, Pediatric pulmonology.

G. Repetto, N. Lahiri, I. Scurr, 2023, American journal of medical genetics. Part A.

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

H. Stewart, I. Maystadt, S. Joss, 2023, American journal of medical genetics. Part A.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

S. Sisodiya, A. Bayat, T. Kleefstra, 2023, Epilepsia open.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.