Diana S. Johnson

发表

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

Diana S. Johnson, S. Lynch, P. Turnpenny, 2021, American journal of medical genetics. Part A.

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

Tomas W. Fitzgerald, T. Fitzgerald, M. Hurles, 2014, Genome research.

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio–facio–cutaneous syndrome

J. Clayton-Smith, Diana S. Johnson, D. Donnai, 2011, Clinical dysmorphology.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Quantifying the contribution of recessive coding variation to developmental disorders

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

James D Stephenson, Patrick J. Short, M. Hurles, 2017 .

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.

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

J. Thornton, R. Laskowski, H. Firth, 2016, Human molecular genetics.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Alison M. Male, P. Bauer, D. Wieczorek, 2013, Orphanet Journal of Rare Diseases.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

S. Twigg, A. Wilkie, H. Stewart, 2021, Human mutation.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

A. Brady, Diana S. Johnson, J. Zschocke, 2020, Genetics in Medicine.

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

A. Munnich, G. Mortier, G. Scarano, 2012, Journal of Medical Genetics.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

P. Byers, X. Jeunemaître, J. Belmont, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

A. Offiah, Diana S. Johnson, G. Nishimura, 2014, American journal of medical genetics. Part A.

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

A. Brady, Diana S. Johnson, J. Zschocke, 2022, Journal of clinical periodontology.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

R. Trembath, W. Wuyts, M. Zenker, 2009, American journal of medical genetics. Part A.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

H. Firth, A. Ekici, S. Holder, 2010, Human mutation.

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

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

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

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

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

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Penny A Jeggo, Claudia Kerzendorfer, P. Jeggo, 2011, Nature Genetics.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Absence of heterozygosity due to template switching during replicative rearrangements.

M. Hurles, R. Pfundt, P. Stankiewicz, 2015, American journal of human genetics.

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

A. Offiah, Diana S. Johnson, J. Berg, 2019, American journal of medical genetics. Part A.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

Diana S. Johnson, M. Balasubramanian, 2019, European journal of medical genetics.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

A. Toutain, R. Jobling, B. Krock, 2018, American journal of human genetics.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

D. Baker, A. Brady, Diana S. Johnson, 2020, American journal of medical genetics. Part A.

IMAGe syndrome: Case report with a previously unreported feature and review of published literature

Diana S. Johnson, M. Balasubramanian, A. Sprigg, 2010, American journal of medical genetics. Part A.

Study of a possible genetic cause of CHARGE association

Diana S. Johnson, 2010 .

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

H. Firth, A. Ekici, S. Holder, 2010, Human mutation.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2022, The lancet. Psychiatry.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, Clinical genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

A. Pagnamenta, N. Popitsch, Jenny C. Taylor, 2017, European 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.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon and Pfeiffer syndromes.

E. Jabs, Diana S. Johnson, S. Boyadjiev, 1999 .

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

D. Baker, A. Brady, Diana S. Johnson, 2020, Genetics in Medicine.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Association of mutations in FLNA with craniosynostosis

S. Robertson, A. Wilkie, Diana S. Johnson, 2015, European Journal of Human Genetics.

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.

N. Samani, L. Mazzolai, A. Maas, 2020, Circulation.

Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK.

Diana S. Johnson, P. Brennan, N. Ghali, 2022, European journal of medical genetics.

Arterial complications in classical Ehlers-Danlos syndrome: a case series

D. Baker, A. Brady, Diana S. Johnson, 2020, Journal of Medical Genetics.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

A. Brady, Diana S. Johnson, V. Mcconnell, 2020, Genetics in Medicine.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta

B. Wagner, D. Baker, Diana S. Johnson, 2021, Ultrastructural pathology.

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

Seiko Makino, Diana S. Johnson, C. Green, 2023, European Journal of Human Genetics.

Genotype-phenotype variability of DARS mutation - case reports of a trio of siblings

Diana S. Johnson, D. Study, D. Connolly, 2020 .

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, P. Holmans, 2022, The lancet. Psychiatry.

An exemplary model of genetic counselling for highly specialised services

Diana S. Johnson, N. Ghali, C. Green, 2023, Journal of Community Genetics.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.