Andrew Wilkie
#134,423
Most Influential Person Now
Clinical geneticist and Nuffield Professor of Pathology at the University of Oxford since 2003
Andrew Wilkie 's AcademicInfluence.com Rankings
Andrew Wilkie biology Degrees
Biology
#9889
World Rank
#13150
Historical Rank
Pathology
#136
World Rank
#258
Historical Rank
Genetics
#1089
World Rank
#1188
Historical Rank
Download Badge
Biology
Why Is Andrew Wilkie Influential?
(Suggest an Edit or Addition)According to Wikipedia, Andrew Oliver Mungo Wilkie is a clinical geneticist who has been the Nuffield professor of Pathology at the University of Oxford since 2003. Education Wilkie was educated at Arnold House School, Westminster School and Trinity College, Cambridge, where he was awarded a Bachelor of Arts degree in 1980 and a Master of Arts degree in 1984. He moved to Merton College, Oxford, where he was awarded a Bachelor of Medicine, Bachelor of Surgery degree in 1983 and subsequently a Doctor of Medicine degree in 1992.
Andrew Wilkie '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
- Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome (1995) (878)
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications (2014) (861)
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (2013) (789)
- A review of the molecular genetics of the human alpha-globin gene cluster. (1989) (525)
- Craniosynostosis: genes and mechanisms. (1997) (509)
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation (1995) (505)
- Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes (1995) (428)
- Genetics of craniofacial development and malformation (2001) (414)
- Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies (2005) (407)
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans (2003) (405)
- Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. (2004) (320)
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders (2015) (319)
- The molecular basis of genetic dominance. (1994) (305)
- Exclusive paternal origin of new mutations in Apert syndrome (1996) (305)
- Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification (2000) (302)
- Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR (2004) (301)
- Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 (2000) (292)
- Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. (2012) (284)
- Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line (2003) (283)
- A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n (1990) (265)
- Functions of fibroblast growth factors and their receptors (1995) (259)
- Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (2002) (244)
- Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
- Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis (2010) (236)
- RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (2007) (233)
- Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B (2000) (222)
- Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (2008) (202)
- FGFs, their receptors, and human limb malformations: clinical and molecular correlations. (2002) (195)
- Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. (2006) (195)
- Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. (2005) (194)
- Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors (2009) (185)
- A Genetic-Pathophysiological Framework for Craniosynostosis. (2015) (180)
- Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16 (1991) (160)
- Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis (2013) (153)
- Germline selection shapes human mitochondrial DNA diversity (2019) (148)
- Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. (2011) (147)
- Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review. (1993) (143)
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism (2014) (142)
- Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia (2005) (138)
- Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects (2001) (135)
- Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease (2012) (128)
- Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis (2013) (128)
- A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis (2017) (124)
- Epidermal mosaicism producing localised acne: somatic mutation in FGFR2 (1998) (122)
- X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. (1992) (121)
- Clinical genetics of craniosynostosis (2017) (116)
- Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. (2009) (114)
- Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia (2009) (109)
- A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 (2012) (108)
- Clinical dividends from the molecular genetic diagnosis of craniosynostosis (2006) (102)
- Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X) (1995) (100)
- The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. (2006) (100)
- New insights into craniofacial malformations. (2015) (98)
- Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. (2003) (98)
- Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. (2014) (96)
- Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (1990) (95)
- Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden (2014) (95)
- Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. (1990) (94)
- Diagnostic value of exome and whole genome sequencing in craniosynostosis (2016) (90)
- Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. (2016) (89)
- De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (1993) (89)
- A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb (2008) (88)
- A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. (2014) (87)
- Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype (2006) (79)
- "Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders. (2013) (76)
- Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (2006) (74)
- OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia (2011) (72)
- A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis? (2000) (72)
- The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
- The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
- Skeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome (2009) (72)
- Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. (2012) (69)
- A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. (2016) (69)
- Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis (2004) (66)
- Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics (2003) (64)
- Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline (2013) (64)
- A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. (1991) (62)
- Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review (2009) (62)
- Craniosynostosis: novel insights into pathogenesis and treatment (1996) (61)
- Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (2013) (59)
- HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients (2017) (58)
- Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily (2009) (58)
- FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent ‘Nonsyndromic’ Coronal Craniosynostosis (2005) (56)
- Hearing loss in a mouse model of Muenke syndrome (2008) (56)
- Cellular evidence for selfish spermatogonial selection in aged human testes (2014) (55)
- Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. (1993) (55)
- Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function (2018) (54)
- A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. (1990) (54)
- Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations (2005) (51)
- Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. (2016) (50)
- Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. (1997) (49)
- Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. (2018) (48)
- Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability (2015) (48)
- The Chromosome (1994) (45)
- Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. (1997) (45)
- Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia (2006) (45)
- Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes (2018) (45)
- A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals (2001) (44)
- Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2 (2003) (43)
- Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation (2004) (43)
- Ethical review of research into rare genetic disorders (2004) (43)
- Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes (2016) (43)
- Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay (2011) (42)
- Efficient use of a ‘dead‐end’ GA 5′ splice site in the human fibroblast growth factor receptor genes (2003) (40)
- Missing heritability: paternal age effect mutations and selfish spermatogonia (2010) (40)
- Craniosynostosis and related limb anomalies. (2001) (40)
- The α‐Thalassemias (1990) (39)
- Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery (2009) (39)
- Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders (2006) (38)
- Why study human limb malformations? (2003) (38)
- DNA testing for fragile X syndrome in schools for learning difficulties. (1995) (38)
- Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 (2013) (37)
- Erythrocytosis associated with a novel missense mutation in the BPGM gene (2010) (37)
- Nonsense‐mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3 (2007) (36)
- Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? (1993) (36)
- Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 (2011) (36)
- Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men (2012) (35)
- Faculty Opinions recommendation of Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. (2003) (35)
- De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder (2019) (34)
- Fibroblast Growth Factor Receptors (2002) (33)
- Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes (2010) (33)
- Epidemiology and genetics of craniosynostosis. (2000) (33)
- Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability (2017) (33)
- Localisation of human alpha globin to 16p13.3----pter. (1988) (32)
- Cancer drugs to treat birth defects (2007) (31)
- X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. (1991) (31)
- An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations (2003) (31)
- Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (1995) (30)
- Raised Intracranial Pressure Is Frequent in Untreated Nonsyndromic Unicoronal Synostosis and Does Not Correlate with Severity of Phenotypic Features (2012) (30)
- Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit (2010) (29)
- Implications of a Vertex Bulge following Modified Strip Craniectomy for Sagittal Synostosis (2008) (29)
- The genetics of mental retardation. (1996) (28)
- De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder (2014) (28)
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder (2018) (27)
- Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis (2013) (27)
- Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline (2017) (26)
- The developing mouse coronal suture at single-cell resolution (2021) (26)
- Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog (2008) (26)
- SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (2020) (25)
- The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. (1993) (25)
- The contribution of X-linked coding variation to severe developmental disorders (2020) (25)
- A genome wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP 2 and within BBS 9 (2012) (25)
- Posterior lenticonus: clinical patterns and genetics. (1993) (25)
- Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure (2012) (24)
- A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome (2005) (24)
- Fibroblast growth factor receptor 2, gain‐of‐function mutations, and tumourigenesis: investigating a potential link (2005) (24)
- Patients with medically unexplained symptoms. (1994) (24)
- ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome (2019) (24)
- Dominant inheritance of optic pits. (1998) (23)
- Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. (1997) (22)
- Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome (2018) (22)
- Functional analysis of natural mutations in two TWIST protein motifs (2005) (22)
- Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study (2017) (21)
- Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. (2001) (21)
- Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome (2013) (21)
- A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation (2007) (21)
- Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients (2006) (20)
- Genetic Prediction: What are the Limits? (2001) (20)
- The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. (1991) (19)
- Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis (2016) (19)
- A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome (2011) (19)
- Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer (2020) (19)
- An unusually large (CA)n repeat in the region of divergence between subtelomeric alleles of human chromosome 16p. (1992) (18)
- Pure de novo partial trisomy 6p in a girl with craniosynostosis (2013) (18)
- Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans (2017) (18)
- Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders (2017) (17)
- Recessive omodysplasia: five new cases and review of the literature (2004) (17)
- Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series (2019) (17)
- Atypical Crouzon Syndrome with a Novel Cys62Arg Mutation in FGFR2 Presenting with Sagittal Synostosis (2012) (17)
- A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis (2020) (17)
- Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis (2009) (16)
- De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. (2020) (16)
- Monozygotic twins discordant for frontonasal malformation (2004) (16)
- Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice (2011) (15)
- Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces (2000) (14)
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative (2019) (14)
- Genetic aspects of birth defects: new understandings of old problems (2007) (14)
- Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS (2007) (14)
- Syndrome of the month (1994) (13)
- Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome (2014) (13)
- Dicentric chromosome in the bone marrow of a child with megakaryoblastic leukaemia and Down's syndrome. (1988) (13)
- Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr (2011) (13)
- Clinical dividends from the molecular genetic diagnosis of craniosynostosis † (2007) (12)
- Megalocornea, developmental retardation and dysmorphic features: two further patients. (1994) (12)
- Many faces of SMCHD1 (2017) (12)
- Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease (2013) (12)
- TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development (2021) (12)
- A gene map of congenital malformations. (1994) (11)
- TCF12 microdeletion in a 72‐year‐old woman with intellectual disability (2015) (11)
- Burning down DEFECT11. (2001) (11)
- Association of mutations in FLNA with craniosynostosis (2015) (11)
- Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis (2021) (9)
- Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis (2021) (9)
- The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself (2013) (9)
- Cellular correlates of selfish spermatogonial selection† (2016) (9)
- Fibroblast growth factor receptor mutations and craniosynostosis: Three receptors, five syndromes (1996) (9)
- Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case. (1997) (8)
- Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (2021) (8)
- Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome (2018) (8)
- Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia (2017) (8)
- Whole genome sequencing for diagnosis of neurological repeat expansion disorders (2020) (7)
- Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL) (1995) (7)
- Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis (2019) (7)
- Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals (2020) (7)
- ATR-16 syndrome: mechanisms linking monosomy to phenotype (2019) (6)
- ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy (2021) (6)
- Dominance and Recessivity (2006) (6)
- amplimap: a versatile tool to process and analyze targeted NGS data (2019) (6)
- ‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care (2012) (6)
- A variant in IL6ST with a selective IL-11 signaling defect in human and mouse. (2020) (6)
- Gregor Mendel and the concepts of dominance and recessiveness (2022) (5)
- Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2. (2002) (5)
- Gene Therapy: Application of Molecular Biology (1992) (5)
- Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome. (2017) (5)
- Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021) (5)
- Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome (2022) (5)
- A variant in IL6ST with a selective IL-11 signaling defect in human and mouse (2020) (5)
- Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN) (2020) (4)
- Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736) (2006) (4)
- The Drosophila homologue of MEGF8 is essential for early development (2018) (4)
- Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn (2017) (4)
- Medical genetics: advances in brief (1993) (4)
- Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway (2021) (3)
- Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome. (2019) (3)
- Faculty Opinions recommendation of LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. (2001) (3)
- Severe cystic fibrosis phenotype in a AF 508 / 3272-26 A-+ G compound heterozygote (3)
- The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms (2020) (3)
- Survival from breast cancer in women with a BRCA2 mutation by treatment (2021) (3)
- Germ cell selection of an FGFR2 mutation explains the paternal age effect in Apert syndrome (2003) (3)
- HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients (2017) (3)
- Pitfalls in the phylogenomic evaluation of human disease-causing mutations (2009) (3)
- A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra. (2020) (3)
- Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation (2022) (2)
- Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity. (2019) (2)
- Dissection of contiguous gene effects for deletions around ERF on chromosome 19 (2021) (2)
- Medical genetics: advances in brief (1993) (2)
- Medical genetics: advances in brief (1993) (2)
- Medical genetics: advances in brief (1993) (2)
- Medical genetics: advances in brief (1993) (2)
- The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors (2019) (2)
- Polygenic Inheritance and Genetic Susceptibility Screening (2006) (2)
- Medical genetics: advances in brief (1994) (2)
- Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome. (2019) (2)
- Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis (2022) (2)
- Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects (2021) (2)
- Update on a child with bilateral posterior lenticonus. (1995) (1)
- Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function. (2022) (1)
- Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene (2022) (1)
- Faculty Opinions recommendation of Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. (2001) (1)
- Audiometric findings in a family with ophthalmological and renal disorders, intellectual disabilities and cleft lip and palate (1997) (1)
- Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation (2021) (1)
- ‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care (2012) (1)
- Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series (2019) (1)
- amplimap: a versatile tool to process and analyze targeted NGS data (2019) (1)
- The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. (2022) (1)
- Toward a cellular model of microvillus inclusion disease (2010) (1)
- Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome (2020) (1)
- Intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome (2009) (1)
- PATERNAL AGE EFFECT AND SELFISH MUTATIONS (2012) (1)
- FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes (2016) (1)
- Primary antibodies used for immunohistochemistry. (2012) (1)
- Craniosynostosis, Genetics of (2013) (1)
- Genes in craniosynostosis (1998) (1)
- Selfish mutations in spermatogenesis and paternal age effects (2010) (0)
- New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation (2011) (0)
- De novo and inherited loss-of-function variants in TLK2: identification, clinical delineation and genotype-phenotype evaluation of a distinct neurodevelopmental disorder (2018) (0)
- Faculty Opinions recommendation of An initiation site for meiotic crossing-over and gene conversion in the mouse. (2002) (0)
- Faculty Opinions recommendation of Systematic screen for human disease genes in yeast. (2002) (0)
- Development of a UK genetic diagnostic service for limb development disorders (2005) (0)
- Letters to the Editor (2010) (0)
- Medical genetics: advances in brief (1992) (0)
- Gene Therapy: A Handbook for Physicians (1996) (0)
- Disease and evolution [2] (1992) (0)
- Homozygous SALL1 mutation causes a novel multiple congenital anomaly mental retardation syndrome (2013) (0)
- Medical genetics: advances in brief (1994) (0)
- Medical genetics: advances in brief: The C elegans genome sequencing project: a beginning. (1992) (0)
- Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome. (2020) (0)
- Genetics of craniofacial anomalies (2021) (0)
- Faculty Opinions recommendation of Systematic mapping of genetic interactions in Caenorhabditis elegans identifies common modifiers of diverse signaling pathways. (2006) (0)
- Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975–c.2000. Wellcome witnesses to contemporary medicine, vol 48 (2015) (0)
- Molecular Genetic Medicine (1995) (0)
- Medical genetics: advances in brief (1992) (0)
- The roles of the homeobox genes ALX4 and MSX2 in skull development (2004) (0)
- Another family with frontorhiny (2010) (0)
- Faculty Opinions recommendation of Myosin gene mutation correlates with anatomical changes in the human lineage. (2004) (0)
- The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4), (2019) (0)
- Molecular Genetic Medicine (1994) (0)
- Comments on important genetic topics from papers in other journals (1992) (0)
- Medical genetics: advances in brief (1992) (0)
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics. (2023) (0)
- Median facial cleft dysmorphism in three siblings: case report and review of the literature. Letter. (2010) (0)
- Medical genetics: advances in brief (1993) (0)
- Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance (2023) (0)
- Reviewer Acknowledgment 2013 (2013) (0)
- Medical genetics: advances in brief (1994) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Enlarged Parietal Foramina]. (2012) (0)
- S14-08 SESSION 14 (2019) (0)
- De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with Attention Deficit/Hyperactivity Disorder, Craniosynostosis and Osteochondroma (2020) (0)
- FGFR3 P250R mutation is a marker for an increased reoperation rate in coronal craniosynostosis (2005) (0)
- Review for "Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome" (2019) (0)
- Medical genetics: advances in brief (1993) (0)
- Paternal age effect mutations in germ cell development: pathological correlates in normal testis and testicular tumours (2011) (0)
- S14-04 SESSION 14 (2019) (0)
- Faculty Opinions recommendation of Segregation at three loci explains familial and population risk in Hirschsprung disease. (2002) (0)
- Molecular Genetics for the Clinician (1993) (0)
- 06-P005 Rab23 regulates cell migration independent of hedgehog signalling in zebrafish: new insight into the Carpenter syndrome phenotype (2009) (0)
- Medical genetics: advances in brief (1993) (0)
- Faculty Opinions recommendation of The diploid genome sequence of an individual human. (2007) (0)
- The Drosophila homologue of MEGF8 is essential for early development (2018) (0)
- Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (2020) (0)
- Errors in human gene mapping 11. (1993) (0)
- Medical genetics: advances in brief (1992) (0)
- Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975–c.2000. Wellcome witnesses to contemporary medicine, vol 48 (2016) (0)
- Transgenic animals (1993) (0)
- Faculty Opinions recommendation of RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse. (2006) (0)
- Faculty Opinions recommendation of Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. (2008) (0)
- Molecular Genetic Medicine (1993) (0)
- Genetic Engineering. Principles and Methods (1995) (0)
- Peer Review #3 of "Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer (v0.1)" (2019) (0)
- 06-P003 Imbalance in ephrin-b1 expression leads to hypertelorism in humans and mice (2009) (0)
- The basis for a tiling array around TWIST1 and its relevance to genetically undiagnosed Saethre-Chotzen syndrome (2011) (0)
- Genetic analysis of complex disease: separating reality from rhetoric (2003) (0)
- Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment (2023) (0)
- Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
- Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis (2021) (0)
- Three interesting cases for the oxford craniofacial molecular diagnostics service (2003) (0)
- Title : Germline selection shapes the landscape of human mitochondrial DNA (2019) (0)
- Medical genetics: advances in brief (1993) (0)
- Medical genetics: advances in brief (1992) (0)
- Faculty Opinions recommendation of Molecular coupling of Xist regulation and pluripotency. (2008) (0)
- Developmental disorders. (1996) (0)
- Books on molecular genetics (1996) (0)
- Identification of novel somatic mosaic EFNB1 variants in patients affected with craniofrontonasal syndrome (2010) (0)
- Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis (0)
- Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration (2023) (0)
- Medical genetics: advances in brief (1993) (0)
- Diagnostic outcomes in craniofacial surgery are improved by use of next-generation dna sequencing (2014) (0)
- Comments on important genetic topics from papers in other journals (1992) (0)
- Faculty Opinions recommendation of Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. (2007) (0)
- Medical genetics: advances in brief (1992) (0)
- Medical genetics: advances in brief (1992) (0)
- Faculty Opinions recommendation of Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. (2005) (0)
- ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome (2016) (0)
- Medical genetics: advances in brief (1992) (0)
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels (2023) (0)
- Medical genetics: advances in brief (1992) (0)
- Comments on important genetic topics from papers in other journals (1992) (0)
- Faculty Opinions recommendation of Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. (2001) (0)
This paper list is powered by the following services:
Other Resources About Andrew Wilkie
What Schools Are Affiliated With Andrew Wilkie ?
Andrew Wilkie is affiliated with the following schools:
