Helen Firth | Academic Influence

Helen Firth's AcademicInfluence.com Rankings

Helen Firth

Biology

#9557

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#12775

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Genetics

#1276

World Rank

#1378

Historical Rank

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Biology

Helen Firth's Degrees

Bachelors Biology University of Oxford

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According to Wikipedia, Helen V. Firth is a British geneticist who specialises in the application of new genomic technologies to improve the diagnosis of severe developmental disorders. She is clinical lead for the UK-wide Deciphering Developmental Disorders project and global DECIPHER platform for data-sharing in rare disease. In 2020, she was elected a Fellow of the Academy of Medical Sciences.

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Helen Firth'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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. (2009) (1488)
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (2013) (789)
The Human Phenotype Ontology in 2017 (2016) (640)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data (2015) (627)
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B (2004) (599)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features (2004) (528)
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 (2008) (492)
A cellular census of human lungs identifies novel cell states in health and in asthma (2019) (479)
Prevalence and architecture of de novo mutations in developmental disorders (2017) (405)
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery (2015) (375)
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability (2006) (362)
Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation (1991) (355)
Paediatric genomics: diagnosing rare disease in children (2018) (316)
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016) (294)
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2019) (280)
Identification of SATB2 as the cleft palate gene on 2q32-q33. (2003) (273)
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis (2004) (248)
Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) (223)
Microduplication and triplication of 22q11.2: a highly variable syndrome. (2005) (221)
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders (2017) (214)
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (2008) (202)
De novo mutations in regulatory elements in neurodevelopmental disorders (2018) (193)
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders (2018) (189)
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas (2017) (181)
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation (2013) (180)
Guidelines for molecular karyotyping in constitutional genetic diagnosis (2007) (169)
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research (2015) (161)
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression (2010) (156)
The Deciphering Developmental Disorders (DDD) study (2011) (155)
Analysis of limb reduction defects in babies exposed to chorionic villus sampling (1994) (152)
Quantifying the contribution of recessive coding variation to developmental disorders (2017) (144)
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism (2014) (142)
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children (2019) (139)
Clinical and mutational spectrum of Mowat-Wilson syndrome. (2005) (135)
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families (2015) (135)
Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. (2003) (126)
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? (2003) (126)
Down syndrome (trisomy 21) (2005) (116)
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB (2006) (113)
Diagnostic interpretation of array data using public databases and internet sources (2012) (102)
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome (2005) (98)
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients (2009) (92)
Whole genome sequencing of a sporadic primary immunodeficiency cohort (2018) (92)
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. (2014) (91)
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant (2015) (88)
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. (2006) (86)
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency (2013) (84)
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension (2017) (84)
Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis (2012) (82)
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children (2007) (79)
Oxford Desk Reference Clinical Genetics (2005) (76)
Deciphering Developmental Disorders (2012) (71)
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. (2012) (70)
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations (2005) (65)
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times (2014) (64)
CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM (2003) (64)
GA4GH: International policies and standards for data sharing across genomic research and healthcare (2021) (62)
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP (2019) (59)
Chorion villus sampling and limb deficiency—cause or coincidence? (1997) (59)
Pathogenicity and selective constraint on variation near splice sites (2018) (57)
A framework for an evidence-based gene list relevant to autism spectrum disorder (2020) (56)
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data (2019) (55)
Policy challenges of clinical genome sequencing (2013) (53)
Paediatric genomics: diagnosing rare disease in children (2018) (53)
RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome (2006) (50)
Fetal cardiac anomalies and genetic syndromes (2004) (49)
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation (2009) (49)
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study (2016) (49)
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice (2002) (47)
Mutations in MEF 2 C from the 5 q 14 . 3 q 15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Diminish MECP 2 and CDKL 5 Expression (2010) (46)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes (2018) (43)
Clinical and molecular consequences of disease-associated de novo mutations in SATB2 (2017) (42)
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders (2018) (40)
Contribution of retrotransposition to developmental disorders (2018) (39)
Further clinical and molecular delineation of the 15q24 microdeletion syndrome (2011) (38)
Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER (2015) (38)
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs) (2010) (37)
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. (2013) (37)
Limb defects and chorionic villus sampling (1996) (36)
Potential research participants support the return of raw sequence data (2015) (34)
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability (2017) (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)
UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. (1992) (33)
Principle of proportionality in genomic data sharing (2015) (32)
Norrie disease and peripheral venous insufficiency (2004) (32)
Patterns of cancer (2005) (32)
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report (2019) (31)
Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome. (1994) (31)
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. (2019) (30)
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three‐dimensional ultrasound (2007) (29)
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2018) (28)
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. (2016) (28)
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources (2022) (27)
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations (2019) (26)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures (2018) (26)
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. (2013) (26)
Registered access: authorizing data access (2018) (25)
The contribution of X-linked coding variation to severe developmental disorders (2020) (25)
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome (2020) (25)
Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val (2012) (24)
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome (2020) (23)
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain (2016) (22)
No expectation to share incidental findings in genomic research (2015) (22)
A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy (2013) (20)
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. (2014) (20)
Recommendations for whole genome sequencing in diagnostics for rare diseases (2022) (18)
Genomic variant sharing: a position statement (2019) (17)
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders (2018) (16)
Making new genetic diagnoses with old data (2018) (16)
Returning genome sequences to research participants: Policy and practice (2017) (15)
Evaluating variants classified as pathogenic in ClinVar in the DDD Study (2020) (14)
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative (2019) (14)
Interpretation of Genomic Copy Number Variants Using DECIPHER (2012) (14)
22q11 deletion syndrome (2005) (13)
Sex chromosome mosaicism (2005) (13)
Isolated hypoglossal schwannoma in a 9-year-old child. (2012) (12)
A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly. (2000) (12)
Genetic and chemotherapeutic influences on germline hypermutation (2022) (12)
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate (2015) (12)
Molecular analysis of eight mutations in FBN1 (1999) (12)
Side effects of benoxaprofen (1982) (12)
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity (2020) (11)
“Matching” consent to purpose: The example of the Matchmaker Exchange (2017) (11)
A cellular census of healthy lung and asthmatic airway wall identifies novel cell states in health and disease (2019) (10)
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2019) (10)
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research (2021) (9)
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease (2020) (8)
Genetic and chemotherapeutic causes of germline hypermutation (2021) (8)
Mutational origins and pathogenic consequences of multinucleotide mutations in 6,688 trios with developmental disorders (2018) (8)
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2020) (7)
Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations (2018) (7)
Syndromic associations with congenital anomalies of the fetal thorax and abdomen (2008) (7)
Duchenne and Becker muscular dystrophy (DMD and BMD) (2005) (7)
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data (2019) (7)
De novo mutations in regulatory elements cause neurodevelopmental disorders (2017) (7)
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer (2022) (6)
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders (2020) (6)
Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms (2020) (6)
Limb reduction defects (2005) (6)
Anterior abdominal wall defects (2005) (6)
DECIPHER : D atabas e of C hromosomal I mbalance and P henotype in H umans Using E nsembl R esources (2009) (6)
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance (2007) (6)
Limb abnormalities and chorion villus sampling (1991) (6)
Cleft lip and palate (2005) (5)
Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders (2020) (5)
Miscarriage and recurrent miscarriage (2005) (5)
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare. (2019) (5)
The contribution of non-canonical splicing mutations to severe dominant developmental disorders (2018) (5)
Deletions and duplications (2005) (5)
Oxford Handbook of Genetics (2009) (5)
Craniomicromelic syndrome: report of a third case. (1999) (5)
Genomic variant sharing: a position statement. (2019) (4)
Congenital adrenal hyperplasia (CAH) (2005) (4)
Long QT and Brugada syndromes (2005) (4)
MALTA (MYH9 ASSOCIATED ELASTIN AGGREGATION) SYNDROME: GERMLINE VARIANTS IN MYH9 CAUSE RARE SWEAT DUCT PROLIFERATIONS AND IRREGULAR ELASTIN AGGREGATIONS. (2019) (4)
A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. (2018) (4)
Structural mapping of GABRB3 variants reveals genotype-phenotype correlation (2021) (4)
DNA repair defects (2005) (4)
Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles (2017) (4)
Submicroscopic chromosomal abnormalities and the chromosomal phenotype (2005) (3)
Database Aids for the Evaluation of Mental Retardation (2010) (3)
Confirmation of diagnosis (2005) (3)
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (2022) (3)
Comprar Oxford Handbook of Genetics | Guy Bradley-Smith | 9780199545360 | Oxford University Press (2009) (3)
The genetics of developmental disorders (2019) (3)
The Effects of Drugs on the Fetus and Nursing Infant (1996) (3)
Epilepsy in infants and children (2005) (3)
Ehlers-Danlos syndrome (EDS) (2005) (3)
A cellular census of human lungs identifies novel cell states in health and in asthma (2019) (2)
Response to Biesecker et al. (2021) (2)
22q11.2 Duplication – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY (2013) (2)
A human embryonic limb cell atlas resolved in space and time (2023) (2)
Turner syndrome, 45,X and variants (2005) (2)
Denver Developmental Screening Test (2005) (2)
Developmental abnormalities of the central nervous system (2010) (2)
Genomically Aided Diagnosis of Severe Developmental Disorders. (2020) (2)
Dilated cardiomyopathy (DCM) (2005) (2)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (2)
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome (2021) (2)
Prenatal diagnosis of sex chromosome aneuploidy (2005) (2)
Supernumerary marker chromosomes (SMCs)--postnatal (2005) (2)
Hypermobile joints. (1968) (2)
Severe deafness in early childhood (2005) (2)
Increased bone density (2005) (2)
Approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay (2005) (1)
Cell division--mitosis, meiosis, and non-disjunction (2005) (1)
Renal tract anomalies (2005) (1)
Radial ray defects and thumb hypoplasia (2005) (1)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (1)
X-autosome translocations (2005) (1)
Mitochondrial DNA diseases (2005) (1)
Chapter 4 Genetic services and the primary care interface (2009) (1)
Recurrence of acheiria in a second cousin: extremely large pedigrees may include 'second cases' by chance. (1990) (1)
Integrating healthcare and research genetic data empowers the discovery of 28 novel 1 developmental disorders 2 3 (2020) (1)
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2019) (1)
Primary pneumococcal peritonitis can be the first presentation of a familial complement factor I deficiency1 (2020) (1)
Chromosomal mosaicism--postnatal (2005) (1)
Beckwith-Wiedemann syndrome (BWS) (2005) (1)
Retinal receptor dystrophies (2005) (1)
Hereditary haemorrhagic telangiectasia (HHT) (2005) (1)
Maternal phenylketonuria (PKU) (2005) (1)
Assisted reproductive technology: in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and pre-implantation genetic diagnosis (PGD) (2005) (1)
VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants (2018) (1)
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms (2023) (1)
Huntington disease (HD) (2005) (1)
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders (2022) (1)
Male infertility: genetic aspects (2005) (1)
Hereditary motor and sensory neuropathy (HMSN) (2005) (1)
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (1)
Myotonic dystrophy (DM) (2005) (1)
Oedema--increased nuchal translucency, cystic hygroma, and hydrops (2005) (1)
Androgen insensitivity syndrome (AIS) (2005) (1)
Oedema--generalized or puffy extremities (2005) (0)
Chapter 11 Resources (2009) (0)
Lifestyle factors in cancer: smoking, alcohol, obesity, diet, and exercise (2005) (0)
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency (2016) (0)
Centile charts for girls height, weight, and occipital-frontal circumference (OFC) (2005) (0)
Colorectal cancer (CRC) (2005) (0)
Erratum: Norrie disease and peripheral venous insufficiency (British Journal of Ophthalmology (2004) 88 (1475)) (2005) (0)
Embryonic fetal development (overview) (2005) (0)
Patchy hypomelanotic skin lesions (2005) (0)
Genetic testing in paediatric neurology – which test to choose? (2021) (0)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
Optic nerve hypoplasia (2005) (0)
Table 1. [Summary of Molecular Genetic Testing Used in 22q11.2 Duplication]. (2013) (0)
Autosomal dominant (AD) inheritance (2005) (0)
BRCA1 and BRCA2 (2005) (0)
Female infertility and amenorrhoea: genetic aspects (2005) (0)
Lumps and bumps (2005) (0)
Juvenile polyposis syndrome (JPS) (2005) (0)
Radiation exposure, chemotherapy and landfill sites (2005) (0)
Importance of adopting standardized MANE transcripts in clinical reporting. (2022) (0)
Laterality disorders including heterotaxy and isomerism (2005) (0)
Autosomal dominant polycystic kidney disease (ADPKD) (2005) (0)
Congenital cystic lung lesions, Currarino syndrome, and sacrococcygeal teratoma (2005) (0)
A kindred with Carney Complex due to a novel PRKAR1A gene mutation (c1067_1070 del AACG ins GCCCA) (2006) (0)
Quick Reference Material (2009) (0)
Developmental delay in the child with consanguineous parents (2005) (0)
Hypoplastic left heart (2005) (0)
Symbols and abbreviations (2009) (0)
Chapter 7 Cancer (2009) (0)
Investigation of lethal metabolic disorder or skeletal dysplasia (2005) (0)
Normal range of aortic root dimensions (2005) (0)
Staging of puberty (2005) (0)
Patau syndrome (trisomy 13) (2005) (0)
X-linked recessive (XLR) inheritance (2005) (0)
X-linked adrenoleukodystrophy (X-ALD) (2005) (0)
A novel XLMR gene identified through array CGH (2005) (0)
Ambiguous genitalia (including sex reversal) (2005) (0)
Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3 (2016) (0)
Peutz-Jeghers syndrome (PJS) (2005) (0)
Consent for genetic testing (2005) (0)
Haemophilia and other inherited coagulation disorders (2005) (0)
Multiple endocrine neoplasia (MEN) (2005) (0)
Oral 10 Osteoma cutis: a manifestation of GNAS1 mutation (2006) (0)
Fetal alcohol syndrome (FAS) (2005) (0)
Testing for genetic status (2005) (0)
Molecular analysis of nine mutations in Fibrillin-l (1999) (0)
Unusual hair, teeth, nails, and skin (2005) (0)
Hereditary nonpolyposis colorectal cancer (HNPCC) (2005) (0)
Databases in human and medical genetics (2010) (0)
Chapter 12 Glossary of terms (2009) (0)
Maternal diabetes mellitus and diabetic embryopathy (2005) (0)
Autosomal reciprocal translocations--postnatal (2005) (0)
Edwards' syndrome (trisomy 18) (2005) (0)
Lissencephaly and neuronal migration disorders (2005) (0)
Radiological investigations including magnetic resonance imaging (MRI) (2005) (0)
Cowden syndrome (CS) (2005) (0)
Congenital diaphragmatic hernia (2005) (0)
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (2022) (0)
Confirmation of diagnosis of cancer (2005) (0)
Osteoma cutis : a manifestation of GNAS1 mutation (2006) (0)
X-linked dominant (XLD) inheritance (2005) (0)
Club-foot (talipes) (2005) (0)
Chapter 3 Genetic investigations (2009) (0)
Chapter 2 Patterns of inheritance (2009) (0)
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders (2018) (0)
Congenital Limb Deficiencies in Hungary. Genetic and Teratologic Epidemiological Studies (1996) (0)
Cystic fibrosis (CF) (2005) (0)
Distribution of muscle weakness in different types of muscular dystrophy (2005) (0)
Genetics in the clinic Clinical Genetics – A Short Course (2001) (0)
Fetal Determinants of Adult Health (2002) (0)
Micrognathia and Robin sequence (2005) (0)
Family tree sheet and symbols (2005) (0)
Patchy pigmented skin lesions (including café-au-lait spots) (2005) (0)
Dandy-Walker malformation (2005) (0)
Cardiomyopathy in children under 10 years (2005) (0)
Chapter 6 Common consultations in primary care (2009) (0)
Hereditary spastic paraplegias (HSP) (2005) (0)
Minor congenital anomalies (2005) (0)
081A teenager with primary pneumococcal peritonitis (2017) (0)
Microdeletion encompassing the MAPT gene at chromosome 17q21.3 is associated with developmental delay and learning disability (2006) (0)
Failure to thrive (prenatal and postnatal growth failure) (2005) (0)
Hypoglycaemia in the neonate and infant (2005) (0)
Haploid autosomal lengths of human chromosomes (2005) (0)
Hemihypertrophy and limb asymmetry (2005) (0)
Launch of the gene curation coalition database (2021) (0)
Limb girdle muscular dystrophies (2005) (0)
Centile charts for occipital-frontal circumference (OFC) (2005) (0)
Autosomal recessive (AR) inheritance (2005) (0)
Chapter 8 Chromosomes (2009) (0)
Norrie disease and peripheral venous insufficiency (vol 88, pg 1475, 2004) (2005) (0)
Tuberous Sclerosis Complex (TSC) (2011) (0)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) (0)
Chapter 5 Common genetic conditions (2009) (0)
Behavioural pattern profile (Shalev and Hall 2004) (2005) (0)
Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia, and arachnoid cysts) (2005) (0)
Generalized disorders of skin pigmentation (including albinism) (2005) (0)
Conversion charts from English to metric units for height and weight (2005) (0)
Oesophageal and intestinal atresia (including tracheo-oesophageal fistula) (2005) (0)
Cancer surveillance methods (2005) (0)
Exome sequencing reveals distinct genetic architectures for syndromic and nonsyndromic congenital heart defects (2016) (0)
Imaging in prenatal diagnosis (2005) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Seizures with developmental delay/mental retardation (2005) (0)
Plagiocephaly and abnormalities of skull shape (2005) (0)
ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation (2006) (0)
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions (2023) (0)
Genome-wide expression studies in 14 patients with microdeletion 5q14.3 syndrome - A novel tool for the systematic study of functional interactions and pathways (2013) (0)
Fragile X syndrome (FRAX) (2005) (0)
Coarse facial features (2005) (0)
Spinal muscular atrophy (SMA) (2005) (0)
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2019) (0)
Mental retardation with apparent X-linked inheritance (2005) (0)
Chapter 1 The impact of genetic disease on families (2009) (0)
Neonatal encephalopathy and intractable seizures in the neonate (2005) (0)
Update on detection of submicroscopic chromosomal imbalances in patients with learning disability and dysmorphic features by array-based comparative genomic hybridization (array-CGH) at 1 Mb resolution (2005) (0)
Li-Fraumeni syndrome (LFS) (2005) (0)
Autism and austism spectrum disorders (2005) (0)
Sentistivity to anaesthetic agents (2005) (0)
CK (Creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD) (2005) (0)
Mosaic trisomy 16 (2020) (0)
Duane retraction syndrome (2020) (0)
Chapter 10 The future (2009) (0)
Syndactyly (other than 2,3 toe syndactyly) (2005) (0)
Fetomaternal alloimmunization (rhesus D and thrombocytopenia) (2005) (0)
Sharing genomic research data: launch of an international ethics study (2012) (0)
Carrier frequency and carrier testing for autosomal recessive disorders (2005) (0)
Autosomal reciprocal translocations--background (2005) (0)
Triploidy (69,XXX, 69,XXY, or 69,XYY) (2005) (0)
Catalysing collaborative research for rare genetic disorders in the UK through the Deciphering Developmental Disorders (DDD) study (2012) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Hypertrophic cardiomyopathy (HCM) (2005) (0)
Premature ovarian failure (POF) (2005) (0)
Prolonged neonatal jaundice and jaundice in infants below 6 months (2005) (0)
Invasive techniques and genetic tests in prenatal diagnosis (2005) (0)
Infantile‐onset osteoma cutis with pseudopseudohypoparathyroidism (2021) (0)
Autosomal reciprocal translocations--familial (2005) (0)
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2018) (0)
Chapter 9 Fertility, pregnancy, and newborn (2009) (0)
The Deciphering Developmental Disorders (DDD) project (2010) (0)
Ptosis, blepharophimosis, and other eyelid anomalies (2005) (0)
Fetal anticonvulsant syndrome (FACS) (2005) (0)
Immunodeficiency and recurrent infection (2005) (0)
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder (2022) (0)
Registered access: authorizing data access (2018) (0)
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP (2019) (0)
Suspected non-accidental injury (2005) (0)
Anal anomalies (atresia, stenosis) (2005) (0)
Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD) (2022) (0)
Obesity with and without developmental delay (2005) (0)
Microphthalmia and anophthalmia (2005) (0)
The genetic code and mutations (2005) (0)
In-depth characterization of 14 patients with deletions of 5q14.3-q15: Is MEF2C the whole story? (2011) (0)
Noonan syndrome (NS) (2005) (0)
Dysmorphology examination checklist (2005) (0)
Skeletal dysplasia charts (2005) (0)
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)

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