I. Ellis

发表

A Prospective Comparison Study of Different Methods of Gathering Self-Reported Family History Information for Breast Cancer Risk Assessment

K. Booth, C. Benjamin, I. Ellis, 2003, Journal of Genetic Counseling.

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

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 .

Predictive genetic testing in maturity‐onset diabetes of the young (MODY)

A. Hattersley, S. Ellard, M. Shepherd, 2001, Diabetic medicine : a journal of the British Diabetic Association.

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA‐based prenatal diagnosis

J. McGrath, C. Willoughby, R. Eady, 2002, The British journal of dermatology.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

A. Villa, M. Vihinen, L. Notarangelo, 2001, Human molecular genetics.

PORCN mutations in focal dermal hypoplasia: coping with lethality

K. Grzeschik, K. Prescott, R. Happle, 2009, Human Mutation.

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service

C. Houghton, A. Weber, J. Birch, 2015, European Journal of Human Genetics.

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

M. Hurles, C. Lelliott, B. Yalcin, 2022, bioRxiv.

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

M. Bobrow, P. Green, P. Green, 1992, Journal of medical genetics.

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

A. Harris, A. Walley, I. Ellis, 1993, Journal of medical genetics.

Severity of meningococcal disease in children and the angiotensin-converting enzyme insertion/deletion polymorphism.

S. Humphries, A. Hart, P. Baines, 2002, American journal of respiratory and critical care medicine.

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.

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

L. Aaltonen, W. Bodmer, A. de la Chapelle, 1998, Journal of medical genetics.

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service

C. Houghton, A. Weber, J. Birch, 2015, European Journal of Human Genetics.

A. Harris, A. Walley, I. Ellis, 1995, British journal of haematology.

An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter

C. Jones, I. Ellis, R. Hart, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Patient report

C. Jones, I. Ellis, R. Hart, 2015 .

Identification of mutations in TCOF1: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome

M. Dixon, A. Bottani, K. Temple, 2004, American journal of medical genetics. Part A.

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

W. Newman, S. Kaye, E. McCann, 2005, American journal of medical genetics. Part A.

Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients

I. Ellis, L. Aaltonen, D. Evans, 1999, Journal of medical genetics.

Elastin: mutational spectrum in supravalvular aortic stenosis

C. Cytrynbaum, W. Reardon, M. Tassabehji, 2000, European Journal of Human Genetics.

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

M. Bobrow, P. Green, M. Kaback, 1993, Journal of medical genetics.

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

M. Bobrow, P. Green, I. Ellis, 1991, 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.

Charles Darwin University Clonality and -a recombination in the Australian Cryptococcus gattii VGII population-an emerging outbreak in Australia Carriconde,

V. Robert, B. Currie, F. Carriconde, 2011 .

Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz‐Jeghers' syndrome provides evidence for a hamartoma–(adenoma)–carcinoma sequence

I Tomlinson, I. Tomlinson, I. Talbot, 1999, The Journal of pathology.

Gastroschisis associated with cleft lip and palate.

B. Khalil, I. Ellis, G. Lamont, 2007, Journal of pediatric surgery.

Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

F. Flinter, M. Seller, I. Ellis, 1996, American journal of medical genetics.

Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant

R. Desnick, G. Besley, S. Victor, 2003, Journal of Inherited Metabolic Disease.

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

J. Dumanski, I. Fransson, I. Tapia-Páez, 2001, Human Genetics.

Effects of genetic screening on perceptions of health: a pilot study.

T. Marteau, M. V. van Duijn, I. Ellis, 1992, Journal of medical genetics.

Two brothers with Goldberg–Shprintzen syndrome

A. Brooks, I. Ellis, S. Kenny, 2006, Clinical dysmorphology.

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.

Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients' views.

R. Macleod, K. Payne, L. Davies, 2007, Health policy.

The Genetics of Neonatal Surgical Conditions

I. Ellis, 2018 .

Introduction to risk calculation in genetic counselling

Ian H Ellis, I. Ellis, 1993 .

URGeNt PROBLeMS OF IMPROVeMeNt OF StOMAtOLOGIC AID tO PAtIeNtS wItH LOCALLY exteNDeD CANCeR OF ORAL CAVItY MUCUS

M. Picardo, I. Ellis, C. Irwin, 2013 .

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.

Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties

R. Armstrong, U. Maye, I. Ellis, 2006, Clinical dysmorphology.

Jewish population . mutations in the UK Ashkenazi disease splice and insertion Frequency of the Tay-Sachs

M. Bobrow, P. Green, I. Ellis, 2022 .

The use of the life course paradigm and life course charts to explore referral for family history of breast cancer.

C. Hallett, K. Booth, C. Benjamin, 2008, International journal of nursing studies.

Effective provision of a genetic screening program delivered to University students with limited resources

O. Ziff, I. Ellis, D. Bodansky, 2015, American journal of medical genetics. Part A.

Introduction to risk calculation in genetic counselling

I. Ellis, 1993 .