J. Tolmie

J. Tolmie, C. Ridout, Garry K. Brown, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical Features andMolecular Analysis ofthea Thalsemia/Mental Retardation Syndromes. 1.CasesDueto Deletions Involving ChromosomeBand16pl3.3

J. Lamb, J. Tolmie, D. Weatherall, 1990 .

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.

J. Tolmie, J. M. Connor, E. Boyd, 1989, American journal of medical genetics.

Non-progressive mental retardation and peripheral neuropathy in a mother and her son.

J. Tolmie, C. Longman, R. Mcwilliam, 2001, Clinical dysmorphology.

DNA copy number variations are important in the complex genetic architecture of müllerian disorders.

J. Tolmie, E. Tobias, R. McGowan, 2015, Fertility and sterility.

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

J. Tolmie, A. Clarke, R. Newbury-Ecob, 2006, Journal of Medical Genetics.

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

J. Tolmie, S. Holden, R. McGowan, 2013, Clinical genetics.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

E. Bertini, W. Halliday, J. Tolmie, 2008, American journal of medical genetics. Part A.

Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.

J. Tolmie, J. M. Connor, J. Tolmie, 1988, The Journal of bone and joint surgery. British volume.

Genetic aspects of early childhood scoliosis.

J. Tolmie, D. Goudie, J. M. Connor, 1987, American journal of medical genetics.

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

J. Tolmie, C. Mcwilliam, J. Warner, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Chromosome 22q11 microdeletions in tetralogy of Fallot.

J. Tolmie, A. Trainer, N. Wilson, 1996, Archives of disease in childhood.

Uniparental isodisomy for chromosome 16 in a growth‐retarded infant with congenital heart disease

J. Tolmie, M. Whiteford, G. Lowther, 1995, Prenatal diagnosis.

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

J. Tolmie, E. Tobias, V. Drouin‐Garraud, 2008, Journal of Medical Genetics.

The face of Ulnar Mammary syndrome?

S. Mundlos, J. Tolmie, K. Prescott, 2011, European journal of medical genetics.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

J. Tolmie, D. Wieczorek, J. Goodship, 2011, European Journal of Human Genetics.

Diagnosis in Prader-Willi syndrome.

J. Tolmie, W. Parry-Jones, J. M. Connor, 1994, Archives of disease in childhood.

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Colin A. Johnson, J. Tolmie, H. Brunner, 2006, American journal of human genetics.

Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

M. Mitchell, J. Tolmie, M. Ferguson-Smith, 1987, Nucleic acids research.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

J. Tolmie, M. Whiteford, A. Cooke, 1997, Journal of medical genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

J. Tolmie, N. Tommerup, H. Karstensen, 2022, Scientific Reports.

Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.

J. Tolmie, S. Joss, M. Donaldson, 2002, American journal of medical genetics.

Syndromes associate with trichotodystrophy

J. Tolmie, J. Mcclure, A. Lehmann, 1994 .

Syndromes associated with trichothiodystrophy.

J. Tolmie, J. Mcclure, A. Lehmann, 1994, Clinical dysmorphology.

MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

J. Tolmie, K. Lachlan, B. Kerr, 2013, Clinical genetics.

Do familial neural tube defects breed true?

J. Tolmie, E. Drainer, H. M. May, 1991, Journal of medical genetics.

Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.

J. Tolmie, D. Fielding, E. Reid, 1996, Journal of medical genetics.

A novel pattern of oculocerebral malformation

W. R. Lee, J. Tolmie, R. Arngrímsson, 1997, The British journal of ophthalmology.

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

C. Woods, J. Tolmie, I. Kurth, 2014, European Journal of Human Genetics.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

Holoprosencephaly in the west of Scotland 1975-1994.

J. Tolmie, M. Whiteford, M. L. Whiteford, 1996, Journal of medical genetics.

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

A. Spauschus, D. Kullmann, J. Tolmie, 1999, Brain : a journal of neurology.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

C. Woods, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

J. Tolmie, R. Hughes-Benzie, J. Stephenson, 1995, Journal of medical genetics.

Investigation of global developmental delay

J. Tolmie, A. Rennie, R. Mcwilliam, 2006, Archives of Disease in Childhood.

The movement disorders of Coffin–Lowry syndrome

J. Tolmie, J. Falconer, S. Zuberi, 2005, Brain and Development.

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

J. Tolmie, Y. Crow, S. Zuberi, 1998, Journal of medical genetics.

Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument

J. Tolmie, Y. Crow, D. Hadley, 2004, Neuropediatrics.

Variable transfer of Y-specific sequences in XX males

N. A. Affara, L. Florentin, K. Kwok, 2022 .

Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination

J. Tolmie, M. Ferguson-Smith, N. Affara, 2004, Human Genetics.

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome

J. Tolmie, C. Longman, A. Maclennan, 2003, Clinical dysmorphology.

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

N. Rahman, H. Firth, J. Tolmie, 2004, Nature Genetics.

Second trimester prenatal diagnosis of the Jarcho‐Levin syndrome

J. Tolmie, M. McNay, M. Whittle, 1987, Prenatal diagnosis.

Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.

J. Tolmie, Y. Crow, K. Rippard, 1997, Clinical dysmorphology.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.

J. Tolmie, J. Neilson, D. Doyle, 1987, American journal of medical genetics.

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.

J. Tolmie, Y. Crow, A. Howatson, 1997, Neuropediatrics.

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

J. Tolmie, Y. Crow, J. Connor, 1998, Journal of medical genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

How to use… microarray comparative genomic hybridisation to investigate developmental disorders

J. Tolmie, S. Joss, Mira Kharbanda, 2014, Archives of Disease in Childhood: Education & Practice Edition.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

D. Schlessinger, J. Tolmie, T. Grossman, 1996, American journal of medical genetics.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

A. Hoischen, N. de Leeuw, J. Tolmie, 2011, Clinical genetics.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

A. Munnich, J. Casanova, J. Tolmie, 2011, Nature Genetics.

Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment

J. Tolmie, D. Pilz, J. Huret, 1996, Clinical genetics.

Outcome of de novo balanced translocations ascertained prenatally.

J. Tolmie, D. Macgregor, S. Imrie, 1989, Journal of medical genetics.

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

J. Tolmie, D. Fitzpatrick, B. Winnepenninckx, 2007, Cytogenetic and Genome Research.

Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.

J. Tolmie, J. Connor, S. Ghaffari, 1998, Journal of medical genetics.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

W. Reardon, J. Tolmie, D. Fitzpatrick, 2007, American journal of medical genetics. Part A.

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.

J. Tolmie, R. Lill, D. Bishop, 2000, Blood.

protein maturation sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur Human ABC7 transporter: gene structure and mutation causing X-linked

J. Tolmie, R. Lill, G. Kispál, 2013 .

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

J. Tolmie, R. Lill, D. Bishop, 2000 .

Towards earlier diagnosis of 22q11 deletions

J. Tolmie, E. Tobias, M. Whiteford, 1999, Archives of disease in childhood.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

J. Gécz, M. Bitner-Glindzicz, J. Tolmie, 2006, Human molecular genetics.

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.

J. Tolmie, M. McNay, J. M. Connor, 1987, American journal of medical genetics.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

J. Tolmie, P. Mithbaokar, N. Brunetti‐Pierri, 2014, European Journal of Human Genetics.

Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son.

J. Tolmie, P. Galea, R. Day, 1997, Journal of medical genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Clinical features and respiratory complications in Myhre syndrome.

J. Tolmie, R. McGowan, M. Whiteford, 2011, European journal of medical genetics.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

C. Woods, J. Tolmie, I. Kurth, 2015, European Journal of Human Genetics.

Hurler—Scheie Phenotype Associated with Consanguinity

R. W. Logan, G. Dutton, J. Tolmie, 1989, Journal of Inherited Metabolic Disease.

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.

Richard S Houlston, J. Tolmie, R. Houlston, 2004, Nucleic acids research.

diagnosis of Williams syndrome . Clinical and molecular cytogenetic ( FISH )

J. Tolmie, N. Morrison, C. Brewer, 2006 .

Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

J. Tolmie, N. Morrison, C. Brewer, 1996, Archives of disease in childhood.

A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita

J. Tolmie, J. Achermann, Lin Lin, 2007, Hormone Research in Paediatrics.

Chromosomal microarray analysis for looked after children: a double-edged sword?

J. Tolmie, S. Joss, M. Hamilton, 2014, Archives of Disease in Childhood.

Molecular genetic analysis of the 3p- syndrome.

M E Phipps, J. Tolmie, M. Lerman, 1994, Human molecular genetics.

Partial deletion of the short arm of chromosome 3

J. Tolmie, P. Batstone, D. Gilmore, 1986, Clinical genetics.

The molecular basis of malonyl-CoA decarboxylase deficiency.

J. Tolmie, J. Christodoulou, D. Fitzpatrick, 1999, American journal of human genetics.

paediatric intensive care unit . Genetic aspects of admissions to a

J. Tolmie, D. Fitzpatrick, C. Skeoch, 2007 .

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

C. Marsden, I. Scheffer, Í. Lopes-Cendes, 1998, American journal of human genetics.

Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.

J. Tolmie, D. Wilcox, R. Mcwilliam, 1988, Journal of medical genetics.

De novo gain-of-function mutation in SCN11A: No pain, More pain, or a bit of Both?

J. Tolmie, I. Horrocks, C. Mcwilliam, 2014 .

Severe prenatal infantile cortical hyperostosis (Galley's disease)

J. Tolmie, P. Turnpenny, R. Davidson, 1993, Clinical dysmorphology.

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49locus

J. Tolmie, E. Tobias, J. Barton, 2001, Journal of medical genetics.

Nine novel L1 CAM mutations in families with X‐linked hydrocephalus

J. Tolmie, S. Kenwrick, D. Goudie, 1997, Human mutation.

The genetics of mental retardation

J. Tolmie, 1998 .

Deterioration of Visual Acuity Associated with Growth Hormone Therapy in a Child with Extreme Short Stature and High Hypermetropia

G. Dutton, J. Tolmie, M. Savage, 2006, Hormone Research in Paediatrics.

Recurrence risks in mental retardation.

Y J Crow, J. Tolmie, Y. Crow, 1998, Journal of medical genetics.

Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties.

J. Tolmie, L. Crampin, M. Donaldson, 1998, Clinical dysmorphology.

Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

J. Tolmie, M. Ferguson-Smith, E. Boyd, 1987, Journal of medical genetics.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

Alice R. Clark, A. R. Clark, S. Robertson, 2015, Journal of Molecular Medicine.

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

J. Tolmie, J. Connor, P. Batstone, 1988, Human Genetics.

Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

J. Tolmie, R. Lemmers, A. Howatson, 2010, Pediatric Nephrology.

Familial hemiplegic migraine in the west of Scotland: a clinical and genetic study of seven families.

J. Tolmie, M. Ahmed, R. Arngrímsson, 1996, Journal of neurology, neurosurgery, and psychiatry.

Cataplexy in the Prader–Willi syndrome

J. Tolmie, E. Tobias, J. Stephenson, 2002, Archives of disease in childhood.

The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.

J. Tolmie, J. Paterson, J. Tolmie, 1995, Journal of medical genetics.

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome

J. Tolmie, M. Whiteford, D. Koppel, 2003, Clinical dysmorphology.

Hair analysis in trichothiodystrophy to distinguish primary and secondary features

J. Tolmie, R. Dawber, D. Berker, 1991 .

Situs inversus totalis and congenital hypoglossia associated with atrial ectopic bradycardia and normal neurodevelopmental outcome.

J. Tolmie, H. Mactier, Laura B McLaren, 2013, Clinical dysmorphology.

An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins

J. Tolmie, S. Kumandas, M. Dundar, 1997, Clinical genetics.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

A new case of Myhre syndrome.

J. Tolmie, M. Whiteford, A. Hollman, 2001, Clinical dysmorphology.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

Roberts syndrome: facial dysmorphology in a mildly affected case.

J. Tolmie, Ayesha Ahmed, S. Imrie, 2009, Clinical Dysmorphology.

A novel acropectoral syndrome maps to chromosome 7q36

J. Tolmie, F. Goodman, Y. Ozkul, 2001, Journal of medical genetics.

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

A. Alberti, M. Fichera, C. Romano, 2005, Clinical chemistry.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

J. Tolmie, Diana S. Johnson, J. Böhm, 2017, Molecular genetics & genomic medicine.