I. Temple

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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.

J. D. Baum, J. Crolla, P. Jacobs, 1995, Nature Genetics.

Aetiopathology and genetic basis of neonatal diabetes

I. Temple, M. Whiteford, J. Shield, 1997, Archives of disease in childhood. Fetal and neonatal edition.

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology

I. Temple, D. Mackay, J. Shield, 2005, Human Genetics.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

F. Ashcroft, T. Frayling, A. Hattersley, 2004, The New England journal of medicine.

6q24 transient neonatal diabetes

I. Temple, J. Shield, I. Temple, 2010, Reviews in Endocrine and Metabolic Disorders.

Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion

L. Philipson, I. Temple, S. Greeley, 2015, Diabetes Care.

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Z. Tümer, T. Eggermann, I. Temple, 2016, Clinical Epigenetics.

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Z. Tümer, T. Eggermann, I. Temple, 2015, Clinical Epigenetics.

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

I. Temple, R. Gibbons, J. Loughlin, 1999, American journal of human genetics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

M. Polak, H. Cavé, I. Temple, 2004, Archives of Disease in Childhood - Fetal and Neonatal Edition.

A familial disorder of altered DNA-methylation

S. Bens, R. Siebert, B. Korn, 2014, Journal of Medical Genetics.

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

S. Seal, N. Rahman, D. Baralle, 2014, Nature genetics.

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

David I. Wilson, I. Temple, J. Holloway, 2014, Journal of Medical Genetics.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

T. Eggermann, S. Mansour, I. Temple, 2015, Nature Communications.

Experiences of adolescents living with Silver-Russell syndrome

H. Inskip, I. Temple, C. Byrne, 2021, Archives of Disease in Childhood.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

H. Inskip, I. Temple, C. Byrne, 2018, Archives of Disease in Childhood.

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

B. Olsen, I. Temple, K. Brøndum‐Nielsen, 2008, European Journal of Human Genetics.

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

W. Reik, P. Schofield, I. Temple, 1997, Journal of medical genetics.

Zellweger syndrome resulting from maternal isodisomy of chromosome 1

H. Waterham, R. Wanders, N. S. Thomas, 2007, American journal of medical genetics. Part A.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus

A. Coupe, I. Temple, D. Mackay, 2002, Human Genetics.

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.

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.

J. Barber, I. Temple, J. Shield, 1996, Human molecular genetics.

Imprinting Disorders of Early Childhood

J. Clayton-Smith, I. Temple, D. Mackay, 2012 .

Epigenotype–phenotype correlations in Silver–Russell syndrome

I. Temple, S Kumar, D. Mackay, 2010, Journal of Medical Genetics.

Epigenotypeephenotype correlations in SilvereRussell syndrome

I. Temple, D. Mackay, E. Maher, 2010 .

Partial lipodystrophy syndromes – a further male case

W. Reardon, I. Temple, J. Leonard, 1990, Clinical genetics.

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

I. Dunham, J. Barber, A. Mungall, 1999, Journal of medical genetics.

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (∼5.4 Mb) interval on chromosome 6q

I. Dunham, J. Barber, A. Mungall, 1999 .

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome.

J. Crolla, N. S. Thomas, I. Temple, 2011, European journal of medical genetics.

Characteristic facies in type B brachydactyly?

R. Houlston, I. Temple, 1994, Clinical dysmorphology.

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

I. Temple, B. Searle, A. Dauber, 2019, Hormone Research in Paediatrics.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

I. Temple, A. Caliebe, D. Mackay, 2013, American journal of medical genetics. Part A.

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

I. Temple, D. Mackay, I. Temple, 2014, Journal of Medical Genetics.

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Z. Tümer, T. Eggermann, I. Temple, 2015, Clinical Epigenetics.

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

S. Ellard, I. Temple, S. Flanagan, 2013, European journal of medical genetics.

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

I. Temple, M. Cubellis, F. Lalatta, 2009, European Journal of Human Genetics.

Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia

I. Temple, D. Burge, D. Wellesley, 2000, Journal of medical genetics.

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

I. Temple, C. Gicquel, D. Mackay, 2011, European Journal of Human Genetics.

Quality of life after repair of tetralogy of Fallot

I. Temple, J. Gnanapragasam, W. Walker, 2002, Cardiology in the Young.

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

J. Clayton-Smith, I. Temple, A. Wilkie, 2001, Human mutation.

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

I. Temple, K. Temple, B. Coppin, 1997, Journal of medical genetics.

Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

W. Reardon, I. Temple, M. Baraitser, 1990, Clinical genetics.

A new alpha 1‐antitrypsin mutation, Thr–Met 85, (PI Zbristol) associated with novel electrophoretic properties

S. Povey, I. Temple, I. Temple, 1997, Annals of human genetics.

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

H. Inskip, G. Binder, I. Temple, 2022, Clinical endocrinology.

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.

R. Winter, I. Temple, M. Baraitser, 1995, Clinical dysmorphology.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

S. Mehta, S. Mansour, I. Temple, 2010, European Journal of Human Genetics.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

K. Devriendt, H. Firth, D. Fitzpatrick, 2014, European journal of medical genetics.

An atypical case of hypomethylation at multiple imprinted loci

S. Mansour, E. Baple, I. Temple, 2011, European Journal of Human Genetics.

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

J. Crolla, I. Temple, D. Mackay, 2010, American journal of medical genetics. Part A.

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.

A. Sharp, I. Temple, H. Bullman, 1999 .

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

R. Siebert, S. Mehta, T. Eggermann, 2018, Journal of Medical Genetics.

Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect

J. Mulliken, M. Vikkula, I. Temple, 2005, Journal of Medical Genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency

I. Temple, L. Metherell, H. Storr, 2015, Journal of Endocrinological Investigation.

Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?

I. Temple, A. Bankier, C. Keith, 1995, Clinical dysmorphology.

Severe mental retardation and absent nails of hallux and pollex.

I. Temple, M. Baraitser, 1991, American journal of medical genetics.

Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of Tars

I. Temple, D. Mackay, I. Temple, 2018, Medical Humanities.

Focal dermal hypoplasia (Goltz syndrome).

I. Temple, M. Baraitser, D. Atherton, 1990, Journal of medical genetics.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

A. Verloes, I. Temple, A. Bottani, 1997, American journal of medical genetics.

Dilemmas in counselling: the EEC syndrome.

I. Temple, M. Baraitser, K. Tse, 1990, Journal of medical genetics.

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

A. Molven, P. Njølstad, O. Søvik, 2010, European Journal of Pediatrics.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

E. Zackai, E. Bermejo, B. Weschke, 2003, Journal of medical genetics.

Human imprinting disorders: Principles, practice, problems and progress.

I. Temple, D. Mackay, I. Temple, 2017, European journal of medical genetics.

Genetic and clinical heterogeneity of Stickler syndrome.

I. Temple, S. Malcolm, M. Baraitser, 1991, American journal of medical genetics.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Congenital spinal deformity in a three generation family.

I. Temple, M. Baraitser, T. G. Thomas, 1988, Journal of medical genetics.

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

A. Hattersley, S. Ellard, L. Harries, 2004, The Journal of clinical endocrinology and metabolism.

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome

A. Sharp, I. Temple, H. Bullman, 1999, Human Genetics.

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

I. Temple, K. Temple, A. Fisher, 1998, Journal of medical genetics.

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

J. Barber, I. Temple, M. Collinson, 1996, American journal of medical genetics.

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

R. Houlston, I. Temple, R. James, 1994, Journal of Medical Genetics.

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

J. Barber, C. Patch, I. Temple, 1994, American journal of medical genetics.

Stickler's syndrome.

I. Temple, I K Temple, 1989, Journal of medical genetics.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

BRAF mutations disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mouse and humans 1

M. Dattani, I. Robinson, J. Blackburn, 2021 .

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11

M. Patton, A. Shaw, R. Newbury-Ecob, 2005, Journal of Human Genetics.

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

I. Temple, J. Holloway, S. H. Arshad, 2015, Clinical Epigenetics.

TO JMG Characterisation of deletions of the ZFHX 1 B region and genotype-phenotype analysis in Mowat-Wilson syndrome

E. Zackai, B. Weschke, I. Temple, 2003 .

A Systematic Search for Uniparental Disomy in Carriers of Chromosome Translocations

P. Jacobs, C. Patch, T. Hassold, 1994, European journal of human genetics : EJHG.

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci

Z. Tümer, C. Acerini, O. Kordonouri, 2013, Diabetes Care.

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

A. Hattersley, H. Firth, S. Ellard, 2008, Nature Genetics.

Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader–Willi syndrome

I. Temple, I. Temple, H. Cox, 2004, American journal of medical genetics. Part A.

A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9

J. Crolla, I. Temple, R. James, 1996, Prenatal diagnosis.

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

E. Zackai, I. Krantz, N. Spinner, 2015, Genetics in Medicine.

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

A. Hattersley, S. Ellard, I. Temple, 2013, Diabetologia.

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

H. Inskip, I. Temple, C. Byrne, 2020, Journal of Medical Genetics.

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

I. Temple, S. Chantot-Bastaraud, M. Harbison, 2021 .

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

V. Maloney, J. Barber, K. Lachlan, 2005, European Journal of Human Genetics.

Distichiasis-lymphoedema syndrome: a family report.

I. Temple, J. Collin, 1994, Clinical dysmorphology.

A probable case of familial Weaver syndrome associated with neoplasia

I. Temple, C. Derry, Temple Ik, 1999, Journal of medical genetics.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy

F. Ashcroft, S. Ellard, L. Harries, 2008, Diabetes.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

F. Ashcroft, A. Hattersley, S. Ellard, 2005, Human molecular genetics.

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

D. Mackey, F. Shawkat, C. Harris, 2006, Molecular vision.

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

A. Hattersley, S. Ellard, H. L. Allen, 2015, The Lancet.

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40‐yr follow‐up

A. Molven, P. Njølstad, O. Søvik, 2012, Pediatric diabetes.

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

S. Gould, L. Koulischer, A. Verloes, 1996, Journal of medical genetics.

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

W. Tapper, I. Temple, S. Ennis, 2014, PloS one.

Diaphragmatic herniae and translocations involving 8q22 in two patients.

J. Barber, I. Temple, D. Burge, 1994, Journal of medical genetics.

A primary care specialist genetics service: a cluster-randomised factorial trial.

R. Pickering, I. Temple, P. Little, 2012, The British journal of general practice : the journal of the Royal College of General Practitioners.

An imprinted locus associated with transient neonatal diabetes mellitus.

R. Siebert, A. Mungall, C. Polychronakos, 2000, Human molecular genetics.

Pallister-Killian syndrome: a study of 22 British patients

Shuwen Huang, V. Maloney, J. Crolla, 2015, Journal of Medical Genetics.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

N. Morton, W. Tapper, I. Temple, 2009, Kidney international.

Diabetes Mellitus, 6q24-Related Transient Neonatal

I. Temple, D. Mackay, L. Docherty, 2015 .

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.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

W. Reardon, S. Mansour, K. Boycott, 2013 .

Midline facial defects with ocular colobomata.

H. Brunner, J. Burn, I. Temple, 1990, American journal of medical genetics.

Duplication of 7 p 12 . 1p 13 , including GRB 10 and IGFBP 1 , in a mother and daughter with features of Silver-Russell syndrome

A. Sharp, I. Temple, Joanna M Walker, 2022 .

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis

H. Gabb, I. Temple, D. Robinson, 1997, Human Genetics.

Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.

I. Temple, P. Hodgkins, C. Browne, 1999, Clinical dysmorphology.

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

J. Hurst, I. Temple, M. Baraitser, 1990, Journal of medical genetics.

Persistent Fetal Vasculature and Severe Protein C Deficiency

I. Temple, I. Temple, N. Foulds, 2010, Molecular Syndromology.

A Search for Uniparental Disomy in Carriers of Supernumerary Marker Chromosomes

J. Crolla, I. Temple, R. James, 1995, European journal of human genetics : EJHG.

Taurodontism and disproportionate short stature.

R. Houlston, P. Speight, I. Temple, 1994, Clinical dysmorphology.

Atypical facio‐scapulo‐humeral muscular dystrophy — a counselling dilemma

W. Reardon, I. Temple, M. Baraitser, 1991, Clinical genetics.

Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants

I. Temple, J. Murray, L. Bicknell, 2020, American journal of medical genetics. Part A.

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

W. Reardon, I. Temple, I. Temple, 2008, American journal of medical genetics. Part A.

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Z. Tümer, T. Eggermann, I. Temple, 2016, Clinical Epigenetics.

Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II.

I. Temple, L. Chitty, I. Moore, 1994, Clinical dysmorphology.

Do Once and Share: clinical genetics

I. Temple, G. Westwood, 2006 .

Observations¶Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus

S. Ellard, K. Owen, I. Temple, 2001, Diabetologia.

Leigh syndrome resulting from de novo mutation at position 8993 of mitochodrial DNA

C. R. Kennedy, G. Brown, A. Seller, 1997, Journal of Inherited Metabolic Disease.

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

I. Temple, M. Baraitser, 1989, Journal of medical genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

I. Temple, J. Holloway, S. H. Arshad, 2015, Clinical Epigenetics.

Microtia and short stature: a new syndrome.

M. Pembrey, D. Shaw, I. Temple, 1991, Journal of medical genetics.

Falling short? The psychosocial impact of living with Russell-Silver syndrome

I. Temple, L. Ballard, A. Fenwick, 2016 .

Further observations on the Floating-Harbor syndrome.

A. Collins, R. Houlston, I. Temple, 1994, Clinical dysmorphology.

A female case of Sedaghatian type spondylometaphyseal dysplasia

I. Temple, N. Foulds, J. Fairhurst, 2003, American Journal of Medical Genetics. Part A.

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.

I. Temple, L. Chitty, R. McCrimmon, 1991, American journal of medical genetics.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.