• De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability 

  Rankin, Julia (Wiley, 2019-04)

  DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The phenotypes ...

• Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype 

  Rankin, Julia (Wiley, 2019-01-21)

  Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, ...

• Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature 

  Cleaver, Ruth (Wiley, 2019-03)

  Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have ...

• An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia 

  Rawlins, Lettie; Fasham, James; Ellard, Sian (Nature, 2019-01-08)

  The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. ...

• Response to Prakash et al. 

  Turner, Claire L.; Donohoe, Mollie E; Brooke, Antonia M (Nature, 2018-12-21)

• NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. 

  Rankin, Julia; Baptista, Júlia; Baple, Emma; Ellard, Sian (Oxford Academic, 2019-01-01)

  Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) ...

• Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. 

  Zeman, Adam; Rankin, Julia (Oxford Journals, 2018-12-15)

  Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction ...

• Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. 

  Rankin, Julia (Wiley, 2018-12-17)

• 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. 

  Turnpenny, Peter D. (Nature, 2018-12-14)

  There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation ...

• Quantifying the contribution of recessive coding variation to developmental disorders. 

  Turnpenny, Peter D. (Science, 2018-11-08)

  We estimated the genome-wide contribution of recessive coding variation from 6,040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in ...

• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language 

  Snidjers Blok, L [et al]; Rankin, Julia (Nature, 2018-11)

  Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a ...

• Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. 

  Turnpenny, Peter D. [et al]; Sloman, Melissa (Cell Press, 2018-11-01)

  PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1), a ...

• De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias 

  Helbig, K. L. [et al]; Rankin, Julia; Zemen, Adam (Cell Press, 2018-11)

  Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on ...

• Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. 

  Carrieri, D. [et al]; Turnpenny, Peter D (Nature, 2018-10-11)

  Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question ...

• Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. 

  Verheije, R. [et al]; Shaw-Smith, Charles (Nature, 2018-10-05)

  Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with ...

• Mosaic Turner syndrome shows reduced penetrance in an adult population study. 

  Tuke, M. A.; Ruth, K. S.; Wood, A. R.; Beaumont, R. N.; Tyrrell, J.; Jones, S. E.; Yaghootkar, H.; Turner, Claire L.; Donohoe, Mollie; Brooke, Antonia; Collinson, M. N.; Freathy, R. M.; Weedon, M. N.; Frayling, T.M.; Murray, A. (Nature, 2018-09-05)

  Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated.

• Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 

  Yuan, B. [et al]; Baple, Emma L.; Rawlins, Lettie; Crosby, Andrew H. (Nature, 2018-08-30)

  Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.

• Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. 

  Li, L. [et al]; Baple, Emma L.; Crosby, Andrew H.; Fasham, James (PLoS, 2018-08)

  We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa ...

• Congenital Scoliosis and Segmentation Defects of the Vertebrae in the Genetic Clinic. 

  Turnpenny, Peter D. (Springer, 2018-06)

• Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 

  Xu, Z.[et al]; Turnpenny, Peter D. (Cell Press, 2018-07-05)

  The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth ...

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