Jill Clayton-Smith

发表

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Georgina Hall, Christopher Campbell, Rachel L. Taylor, 2017, Ophthalmology.

The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

Marta García-Fiñana, Jill Clayton-Smith, S. B. Lucas, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Elias I Traboulsi, Jill Clayton-Smith, Jean-Pierre Fryns, 2004, American journal of human genetics.

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Silke Rinkwitz, I. C. Lloyd, Marija Mihelec, 2015, Human molecular genetics.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Janet M Thornton, Roman A Laskowski, Caroline F Wright, 2017, Molecular genetics & genomic medicine.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Sofia Douzgou, Jill Clayton-Smith, W. Reardon, 2017, Journal of Pediatric Genetics.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Dian Donnai, Cynthia Curry, Helena Kääriäinen, 2003, American journal of medical genetics. Part A.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

David Mellis, Evelina Mazzolari, Paolo Vezzoni, 2008, American journal of human genetics.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Angelman syndrome: Consensus for diagnostic criteria

Daniel J. Driscoll, Jill Clayton-Smith, D. J. Driscoll, 1995 .