David Sillence

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David Sillence is affiliated with the following schools: University of Sydney, University of Melbourne

David Sillence's AcademicInfluence.com Rankings

David Sillence

Biology

#1130

World Rank

#1934

Historical Rank

Genetics

#78

World Rank

#111

Historical Rank

biology Degrees

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Biology

David Sillence's Degrees

Bachelors Genetics University of Melbourne

Why Is David Sillence Influential?

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According to Wikipedia, David Owen Sillence is an academic and medical geneticist. He is an emeritus professor at the University of Sydney, where he was the foundation chair of Medical Genetics. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne 1978 in bone dysplasia.

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David Sillence's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genetic heterogeneity in osteogenesis imperfecta. (1979) (1916)
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision (2011) (665)
Nosology and classification of genetic skeletal disorders: 2015 revision (2015) (488)
Nosology and classification of genetic skeletal disorders: 2019 revision (2019) (369)
Osteogenesis imperfecta: an expanding panorama of variants. (1981) (364)
Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis* (2003) (356)
Bone mineral density of total body, spine, and femoral neck in children and young adults: A cross‐sectional and longitudinal study (1994) (321)
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry (2007) (300)
A new syndrome? (2005) (288)
The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome) (2009) (281)
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. (1981) (267)
Mutations in PYCR1 cause cutis laxa with progeroid features (2009) (228)
Medical complications of achondroplasia: a multicentre patient review. (1998) (226)
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (2006) (226)
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (2011) (198)
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. (1984) (192)
Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function (1997) (190)
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda (1999) (187)
Early Diagnosis of Fibrodysplasia Ossificans Progressiva (2008) (159)
NAD Deficiency, Congenital Malformations, and Niacin Supplementation (2017) (153)
Mutated MESP2 causes spondylocostal dysostosis in humans. (2004) (151)
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial (2013) (150)
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (2005) (139)
Morphologic studies in the skeletal dysplasias. (1979) (136)
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. (1995) (136)
Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal Propeptide which Impair Subunit Assembly (*) (1995) (135)
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. (1979) (134)
CLASSIFICATION OF OSTEOGENESIS IMPERFECTA (1978) (126)
International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone (1998) (125)
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. (1997) (117)
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (2000) (112)
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. (1984) (110)
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. (1993) (109)
Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. (2008) (107)
Gene localization for an autosomal dominant familial periodic fever to 12p13. (1998) (92)
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome (2005) (88)
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. (2004) (87)
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. (1998) (83)
The differential diagnosis of children with joint hypermobility: a review of the literature (2008) (82)
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. (1996) (80)
Human Mucopolysaccharidosis IIID: Clinical, Biochemical, Morpholgical and Immunohistochemical Characteristics (1997) (73)
International classification of osteochondrodysplasias (1992) (72)
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features (2010) (69)
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies (2015) (68)
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability (2010) (68)
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. (2007) (67)
Generalized arterial calcification of infancy: treatment with bisphosphonates (2009) (64)
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. (2015) (60)
Classification of osteogenesis imperfect. (1978) (57)
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. (1995) (57)
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis (2010) (57)
Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type (1996) (57)
Familial Scheuermann disease: a genetic and linkage study. (1992) (57)
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes (2011) (56)
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components (2013) (56)
Breathing abnormalities in sleep in achondroplasia. (1993) (55)
The Clinical Spectrum of Lumbar Spine Disease in Achondroplasia (1982) (51)
Natural history of blue sclerae in osteogenesis imperfecta. (1993) (50)
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome (2009) (49)
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. (1995) (49)
Animal model: skeletal anomalies in mice with cleidocranial dysplasia. (1987) (49)
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia. (1982) (47)
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families (2011) (45)
Abnormalities of the spine in Goldenhar's syndrome. (1996) (44)
Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis (2012) (44)
Spondylometepiphyseal dysplasia, Strudwick type. (1982) (43)
Non-Majewski short rib-polydactyly syndrome. (1980) (42)
Czech dysplasia metatarsal type: another type II collagen disorder (2007) (42)
The natural history and osteodystrophy of mucolipidosis types II and III (2010) (42)
Functional performance in young Australian children with achondroplasia (2011) (42)
Development in children with achondroplasia: a prospective clinical cohort study (2012) (41)
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment (2003) (40)
Atelosteogenesis syndromes: a review, with comments on their pathogenesis (1997) (37)
Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy. (2013) (37)
Prenatal screening. (1986) (36)
Developmental Milestones in Infants and Young Australasian Children With Achondroplasia (2010) (35)
Diastrophic dysplasia: the death of a variant. (1981) (34)
An embedding method for histochemical studies of undecalcified skeletal growth plate. (1980) (34)
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (1995) (33)
Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease in an Extremely Preterm Infant (2005) (32)
Diverse requirements for Notch signalling in mammals. (2002) (31)
Cognitive and psychological functioning in Fabry disease. (2014) (30)
The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen. (1987) (30)
Germline and somatic mosaicism in achondroplasia (2000) (29)
Three patients with terminal deletions within the subtelomeric region of chromosome 9q (2005) (27)
IMPAD1 mutations in two Catel‐Manzke like patients (2012) (27)
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype (2017) (25)
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. (1998) (25)
Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment (2015) (24)
Fragilitas ossium (fro/fro) in the mouse: a model for a recessively inherited type of osteogenesis imperfecta. (1993) (23)
Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0–5 years (2012) (23)
Overnight Growth Hormone Secretion in Achondroplasia: Deconvolution Analysis, Correlation with Sleep State, and Changes after Treatment of Obstructive Sleep Apnea (1996) (22)
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V (2014) (20)
Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome. (1978) (20)
Upregulation of inward rectifying currents and Fabry disease neuropathy (2012) (19)
Huntington’s disease: neurological assessment of potential gene carriers presenting for predictive DNA testing (2000) (19)
LETHAL PRENATAL ONSET INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY DISEASE) (2001) (18)
Biallelic variants in DNA2 cause microcephalic primordial dwarfism (2019) (18)
Atelosteogenesis: evidence for heterogeneity (2006) (18)
An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family (1993) (18)
Dyssegmental dysplasia (2004) (16)
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. (2012) (16)
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications (2019) (15)
Genetic homogeneity of cartilage-hair hypoplasia (1995) (15)
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. (2018) (15)
Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience. (2012) (15)
Clinical management of osteogenesis imperfecta. (1995) (15)
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain (2013) (15)
Variability in kyphomelic dysplasia (1999) (15)
Boomerang dysplasia. (1985) (14)
Generalized arterial calcification of infancy: treatment with bisphosphonates (2009) (14)
Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III (2009) (14)
A case of Kabuki (Niikawa‐Kuroki) syndrome associated with manifestations resembling C‐trigonocephaly syndrome (2004) (14)
Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome (2009) (14)
The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome. (1996) (13)
Neonatal dwarfism. (1978) (13)
Perinatally lethal short rib-polydactyly syndromes 1. Variability in known syndromes (2006) (13)
Fibrochondrogenesis in male twins at 24 weeks gestation. (1991) (13)
Gracile bone dysplasias (2002) (12)
Congenital synspondylism. (1992) (12)
The effect of height, weight and head circumference on gross motor development in achondroplasia (2013) (12)
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures (2018) (12)
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata (1992) (11)
Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. (1994) (10)
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. (2011) (10)
Letter: Glibenclamide-induced hypoglycaemia. (1975) (10)
Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. (2000) (10)
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. (1991) (9)
Agnathia-holoprosencephaly with tetramelia. (1992) (9)
Congenital macular colobomas and short-limb skeletal dysplasia. (1980) (9)
Dappled diaphyseal dysplasias. (1989) (9)
Cloverleaf skull and bone dysplasias (report of four cases). (1987) (8)
Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia (2007) (8)
The mouse skeletal mutants: models for the human skeletal dysplasias. (1985) (7)
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. (1995) (7)
Early prenatal diagnosis of cartilage‐hair hypoplasia (CHH) with polymorphic DNA markers (1995) (7)
X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype. (1994) (7)
Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease. (2012) (6)
Fabry disease and Factor V Leiden: a potent vascular risk combination (2011) (6)
Neonatal severe hyperparathyroidism: An important clue to the aetiology (2006) (6)
Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale). (1993) (5)
Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization. (1994) (5)
Intellectual functioning in alpha‐mannosidosis (2019) (5)
Review Article: Morphologic Studies in the Skeletal Dysplasias (1979) (5)
Mesomelic dysplasia: Langer type. (1994) (5)
Osteogenesis Imperfecta 2000 (2000) (5)
Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta (2014) (4)
The rib gap anomaly in partial or mosaic trisomy 8 (1988) (4)
Disorders of Bone Density, Volume, and Mineralization (2013) (4)
The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix. (1996) (4)
Nosology of genetic skeletal disorders: 2023 revision (2023) (4)
Axenfeld anomaly in association with hypomelanosis of Ito. (1991) (4)
Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. (1980) (4)
"Giant cell" chondrodysplasia. (1983) (4)
Lumbar platyspondyly — characteristic sign of Ehlers-Danlos syndrome (2005) (3)
Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies (2005) (3)
Comparisons and correlations of skeletal defects in mouse and human. (1988) (2)
Osteogenesis Imperfecta (and Other Disorders of Bone Matrix) (2013) (2)
Cyclic intravenous pamidronate therapy for osteogenesis imperfecta (2000) (2)
Lethal micromelic facial bones sclerosis dysplasia. (1992) (2)
Atlas of fetal anomalies (1993) (2)
Case report 870 (1994) (2)
Chondro-osseous morphology and biochemistry in the skeletal dysplasias. (1981) (2)
DNA diagnosis of cystic fibrosis — an Australian perspective (1989) (2)
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. (2019) (1)
A new type of achondrogenesis (1986) (1)
Cardiofaciocutaneous syndrome. (1992) (1)
Case report 870. Schneckenbecken dysplasia, possibly a new variant. (1994) (1)
Ultrastructural studies of cartilage in genetic disorders of skeletal growth (1978) (1)
ANIRIDIA RESULTING FROM CHROMOSOME 11p13 DELETION (MILLER'S SYNDROME): REPORT OF A CASE (1984) (1)
Tuesday, 28 August 2012 (2012) (1)
Erratum : Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008)) (2019) (1)
The Human Genome Project (1990) (1)
Newborn skeletal dysplasias-recent developments (1984) (1)
Kazimierz Stanislaw Kozlowski (1928‑2022). (2023) (0)
University of Groningen Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH 3 (2018) (0)
Genetics and Adolescents (2013) (0)
In situ hybridisation (ISH) can accurately delineate structurally abnormal y chromosomes (1992) (0)
17. Pathophysiological mechanisms underlying Fabry’s disease neuropathy (2012) (0)
Intravenous pamidronate treatment on children with moderate to severe osteogenesis imperfecta started less than 36 months of age (2009) (0)
Abnormal cell cycle regulation and chondrocyte differentiation in transgenic mice expressing a schmid metaphyseal chondrodysplasia mutation in COL10A1. (2002) (0)
The natural history of basilar impression in osteogenesis imperfecta. Correlation with 01 type (1995) (0)
Ocular complications of Mucopolysaccharidoses (2012) (0)
Abnormal regulation of cartilage and bone growth in transgenic mice expressing a collagen X SMCD mutation (1999) (0)
Abnormal chondroctye differentiation in transgenic mice expressing a schmid metaphyseal chondrodysplasia Col10al mutation (2002) (0)
Inherited disorders of the skeleton (1980) (0)
Osteogenesis imperfecta in southern Africa: Peter Beighton's legacy. (2016) (0)
X-linked cardiomyopathy is heterogeneous (1994) (0)
A colour atlas of clinical genetics (1984) (0)
Fabry Disease is Indistinguishable form Hypertensive Heart Disease based on Left Ventricular Mass and Left Atrial Volumes (2009) (0)
Perinatally lethal osteogenesis imperfecta-clinical and genetic findings with reflection on the pathogenesis (1984) (0)
Abnormal regulation of cartilage and bone growth in transgenic mice expressing mutant collagen X (1999) (0)
Abnormal chondrocyte differentiation is dosage-dependent in transgenic mice expressing unassembled mutant collagen X in hypertrophic chondrocytes (2004) (0)
Achondroplasia and zinc deficiency. (1980) (0)
Abnormal chondrocyte differentiation in transgenic mice expressing a schmid metaphyseal chondrodysplasia col10a1 mutation (2000) (0)
Genetic heter-ogeneity in osteogenesis imperfecta (1979) (0)
AB019. Osteogenesis imperfecta 2015: new genes, new treatments—an Asia pacific perspective (2015) (0)
Cardiac Mass and Myocardial Late Enhancement are Associated with Overall Disease Severity and Left Ventricular Pressure Load in Fabry Disease (2013) (0)
25. Longitudinal studies of the glycoproteinoses: An international update (2010) (0)
Breathing abnormalities insleep in achondroplasia (2011) (0)
Genes and disease (1992) (0)
Infantile arterial calcification: Successful treatment with bisphosphonates (2007) (0)
The effects of early intravenous pamidronate treatment on infants with moderate to severe Osteogenesis Imperfecta (2009) (0)
A hypothesis for the function of collagen X (1996) (0)
Chronic recurrent multifocal osteomyelitis: Effectiveness of cyclic intravenous pamidronate therapy in pain relief and spinal involvement (2007) (0)
Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie) (2011) (0)
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (2022) (0)
Evaluation of Left Ventricular Strain and Dyssynchrony in Patients with Fabry Disease (2008) (0)

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What Schools Are Affiliated With David Sillence?

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