L. Gaunt

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Large-scale discovery of novel genetic causes of developmental disorders

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

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 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

L. Gaunt, A. Slavotinek, D. Donnai, 1997, Journal of medical genetics.

A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

L. Gaunt, J. Clayton-Smith, S. Ramsden, 1996, Acta geneticae medicae et gemellologiae.

Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis

L. Gaunt, J. Clayton-Smith, W. Newman, 2007, Clinical genetics.

Two unique patients with trisomy 18 mosaicism and molecular marker studies

L. Gaunt, A. Slavotinek, A. Wallace, 2003, American journal of medical genetics. Part A.

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

L. Gaunt, G. Parkin, L. Willatt, 2010, European Journal of Human Genetics.

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

L. Gaunt, F. Petrij, D. Donnai, 1996, Journal of medical genetics.

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis

L. Gaunt, B. Kerr, D. Donnai, 2003, The British journal of ophthalmology.

Partial tetrasomy 21 in a male infant

X. Chen, J. Korenberg, L. Gaunt, 2000, Journal of medical genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

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.

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia

Peter J. Campbell, Michael R. Stratton, Ben Robinson, 2014, Nature.

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

J. Flint, L. Gaunt, J. Clayton-Smith, 1999, Journal of medical genetics.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

N. Spinner, L. Gaunt, Yiping Shen, 2010, European journal of medical genetics.

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.

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.

L. Gaunt, T. Strachan, R. Harris, 1993, Human molecular genetics.

De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

P. Tarpey, L. Gaunt, J. Clayton-Smith, 2001, American journal of medical genetics.

Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain

L. Gaunt, M. Needham, H. Kingston, 2009, Developmental medicine and child neurology.

The 5q – syndrome: an underdiagnosed form of macrocytic anaemia

L. Gaunt, P. Hamilton, H. Tinegate, 1983, British journal of haematology.

Extended Data Figure 5

M. Stratton, P. Campbell, P. Stephens, 2014 .

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.

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

L. Gaunt, J. Clayton-Smith, S. Banka, 2011, American journal of medical genetics. Part A.

Developing numeracy in young adults with Down Syndrome: a preliminary investigation of specific teaching strategies

L. Gaunt, Karen Moni, A. Jobling, 2012 .

A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues

L. Gaunt, H. Stewart, L. Moore, 1997, Clinical genetics.

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report

L. Gaunt, J. Clayton-Smith, M. Needham, 2008, Journal of medical case reports.

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.

Beckwith-Wiedemann syndrome.

L. Gaunt, A. Read, A. Slavotinek, 1992, Journal of medical genetics.

The 5q – syndrome: an underdiagnosed form of macrocytic anaemia

L. Gaunt, P. Hamilton, H. Tinegate, 1983, British journal of haematology.

Extended Data Table 1

Peter J. Campbell, Michael R. Stratton, Philip J. Stephens, 2014 .