A. Fryer

发表

Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

C. Mathew, B. Ponder, S. Huson, 1990, Nature.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Mutations in the chromatin‐associated protein ATRX

I. Krantz, D. Goudie, D. Steensma, 2008, Human mutation.

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

S. Aftimos, D. Higgs, G. Neri, 1997, Nature Genetics.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Index finger abnormalities in Simpson–Golabi–Behmel syndrome

A. Fryer, R. Day, 2005, Clinical dysmorphology.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

D. Pilz, J. Burn, D. Fitzpatrick, 2017, European journal of medical genetics.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

D. Evans, A. Samii, D. Halliday, 2015, Neurology.

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.

J. Clayton-Smith, A. Fryer, V. Clowes, 2014, Clinical dysmorphology.

Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics

D. Craufurd, A. Fryer, C. Wright, 2002, Journal of medical genetics.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

Monozygotic twins with 22q11 deletion and discordant phenotypes.

A. Fryer, 1996, Journal of medical genetics.

A 90 kb DNA deletion associated with neurofibromatosis type 1.

S. Huson, D. Shaw, M. Upadhyaya, 1990, Journal of medical genetics.

A framework for genetic service provision for haemophilia and other inherited bleeding disorders

D. Perry, A. Fryer, G. Dolan, 2005, Haemophilia : the official journal of the World Federation of Hemophilia.

Mucosal lesions can occur in leopard syndrome.

A. Fryer, 2007, Clinical dysmorphology.

Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

C. Haldeman-Englert, A. Fryer, E. Kirk, 2013, American journal of medical genetics. Part A.

Close flanking markers for neurofibromatosis type I (NF1).

P. Harper, M. Upadhyaya, A. Fryer, 1989, American journal of human genetics.

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

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

Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

A. Christiano, A. Fryer, E. Ladusans, 2014, Clinical and experimental dermatology.

Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

A. Fryer, D. Fielding, 1992, Journal of medical genetics.

Angelman and Prader-Willi syndromes

A. Fryer, 1997 .

The Genetic Testing of Children

A. Fryer, A. Fryer, 1997, Journal of the Royal Society of Medicine.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Syndromes Associated with Hereditary Deafness

A. Fryer, 2003 .

Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.

A. Fryer, E. Sweeney, M. Walters, 2000, Clinical dysmorphology.

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

A. Harding, R. Appleton, A. Fryer, 1994, Archives of disease in childhood.

The Genetic Testing of Children

A. Fryer, 1997, Archives of disease in childhood.

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

P. Harper, M. Upadhyaya, A. Fryer, 1992, Journal of medical genetics.

Clinical Genetic Services in the United Kingdom

A. Fryer, 2014 .

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

C. Wadelius, S. Kenwrick, A. Fryer, 1995, American journal of human genetics.

Neurofibromatosis type 1 and McCune–Albright syndrome occurring in the same patient

A. Fryer, S. Kaye, J. Verbov, 2000, The British journal of dermatology.

Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.

J. Weissenbach, S. Bhattacharya, A. Fryer, 1994, American journal of human genetics.

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

H. McDowell, A. Fryer, S. Khan, 1995, Journal of medical genetics.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

R. Holt, P. Calvas, N. Chassaing, 2018, Human Genetics.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Nail patella syndrome: a review of the phenotype aided by developmental biology

A. Green, A. Fryer, R. Mountford, 2003, Journal of medical genetics.

A note on Pierre Marie (1853–1940)

J. Clayton-Smith, G. Baker, D. Chadwick, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

Scalp lipomas and cerebral malformations--report of a case and review of the literature.

A. Fryer, 1992, Clinical dysmorphology.

Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting

C. Willoughby, A. Fryer, T. Moutray, 2010, American journal of medical genetics. Part A.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

S. Ferdinandusse, H. Waterham, W. Newman, 2015, American journal of human genetics.

Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

S. McKee, A. Fryer, A. Barnicoat, 2001, Clinical dysmorphology.

Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

N. Brunetti‐Pierri, J. Mulliken, R. Pauli, 2013, American journal of medical genetics. Part A.

Evaluating the association between congenital cystic adenomatoid malformation of the lung and abdominal wall laxity

A. Fryer, R. Armstrong, E. Jesudason, 2007, Clinical dysmorphology.

CFTR -Related Male Infertility

A. Fryer, V. McKay, 2017 .

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

A. Fryer, P. Holt, H. Hughes, 1991, American journal of medical genetics.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

M. Nöthen, H. Hennies, A. Fryer, 2013, American journal of human genetics.

Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes

J. Clayton-Smith, U. Kini, A. Fryer, 2005, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.

A. Fryer, R. Day, 2003, Clinical dysmorphology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

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

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

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Tomas W. Fitzgerald, Stephen W. Wilson, N. Carter, 2009, Human Genetics.

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).

S. Ellard, S. Mansour, A. Fryer, 2003, The Journal of investigative dermatology.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Steven J. M. Jones, Shing Hei Zhan, Clara DM van Karnebeek, 2014, Orphanet Journal of Rare Diseases.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

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.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

D. Hunt, S. Bhattacharya, C. Inglehearn, 1994, Nature Genetics.

Mutational analysis of familial and sporadic hyperekplexia

P. O’Connell, R. Shiang, T. Fielder, 1995, Annals of neurology.

The management of neurofibromatosis

A. Fryer, 1990 .

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome

W. Newman, A. Fryer, E. McCann, 2005, American journal of medical genetics. Part A.

Genetic and Physical Localisation of the Gene Causing Cone-Rod Dystrophy (CORD2)

G. Lennon, A. Fryer, J. Bellingham, 1997 .

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Kang Zhang, David A Mackey, Carmel Toomes, 2004, Investigative ophthalmology & visual science.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Luciana Rodrigues da Silva, R. Holt, P. Calvas, 2018, Human Genetics.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients

D. Craufurd, A. Fryer, C. Wright, 2002, Journal of medical genetics.

Inappropriate genetic testing of children

A. Fryer, 2000, Archives of disease in childhood.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

J. Clayton-Smith, V. Ricotti, S. McKee, 2008, Journal of Medical Genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Surgical implications of the Smith–Lemli–Opitz syndrome

A. Fryer, R. Craigie, C. Baillie, 2005, Pediatric Surgery International.

Mutation analysis of iduronate‐2‐sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations

M. Upadhyaya, A. Fryer, C. Hartog, 1999, Human mutation.

The tale of a nail continues: further delineation using CGHarray of the critical region at 4q34 causing the volar nail sign.

A. Fryer, V. McKay, 2014, Clinical dysmorphology.

Goldberg-Shprintzen syndrome: report of a new family and review of the literature.

A. Fryer, 1998, Clinical dysmorphology.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.

R. Appleton, P. Nicolaides, A. Fryer, 1996, Journal of medical genetics.

Meier-Gorlin syndrome: report of eight additional cases and review.

J. Opitz, E. Bongers, R. Hennekam, 2001, American journal of medical genetics.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Douglas E. V. Pires, Soo-Mi Park, A. Antoniou, 2018, Journal of Medical Genetics.

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.

M. Greenslade, A. Fryer, C. Bailey, 2015, European journal of medical genetics.

A case of 9q21.11q22.1 triplication with novel ophthalmic features.

W. Newman, A. Fryer, N. Vallabh, 2017, Clinical dysmorphology.

Sotos syndrome: two cases with severe scoliosis.

A. Fryer, E. Sweeney, D. Donnai, 2002, Clinical dysmorphology.

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

P. Harper, M. Upadhyaya, A. Fryer, 1990, Journal of medical genetics.

Genitourinary malformations as a feature of the Pallister–Hall syndrome

L. Biesecker, A. Fryer, A. Selby, 2006, Clinical dysmorphology.

aided by developmental biology Nail patella syndrome: a review of the phenotype

A. Fryer, R. Mountford, E. Sweeney, 2010 .

Autism, language and communication in children with sex chromosome trisomies

Dorothy V M Bishop, Angela Barnicoat, Kate Nation, 2010, Archives of Disease in Childhood.

Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations.

I. Leigh, A. Fryer, J. Field, 1994, European journal of cancer. Part B, Oral oncology.

The role of molecular genetics in the prenatal diagnosis of retinal dystrophies

A. Bird, M. Jay, S. Bhattacharya, 1995, Eye.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience

M. Upadhyaya, A. Fryer, O. Quarrell, 1990, Prenatal diagnosis.

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review

M. Irving, W. Drake, A. Fryer, 2018, Orphanet Journal of Rare Diseases.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

London Dysmorphology Database

A. Fryer, Alan Fryer, 1991 .

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome

J. Clayton-Smith, M. Tassabehji, S. Mansour, 2008, Clinical genetics.

Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations

A. Fryer, R. Day, 2004, Clinical dysmorphology.

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

J. Clayton-Smith, A. Fryer, D. Donnai, 1994, Clinical dysmorphology.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

A. Rigby, F. Raymond, M. Losekoot, 2006, Journal of Medical Genetics.

Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.

A. Fryer, H. Joshi, C. Pottinger, 2009, Clinical dysmorphology.

A novel recurrent mutation in ATP1A3 causes

C. Ross, M. Demos, C. Shyr, 2014 .

Autosomal dominant inheritance of Weaver syndrome.

A. Fryer, T. Cole, L. Rosenbloom, 1997, Journal of medical genetics.

Hypopigmentation of the fundi associated with Pallister-Killian syndrome.

A. Fryer, M. Birch, A. Patterson, 1995, Journal of pediatric ophthalmology and strabismus.

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

G. Richard, C. Willoughby, A. Fryer, 2009, Eye.

Recurrence of Pallister-Hall syndrome in two sibs.

A. Fryer, D. Heaf, A. Fryer, 1994, Journal of medical genetics.

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.

J. Clayton-Smith, U. Kini, A. Fryer, 2007, European journal of medical genetics.

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

N. Tubridy, A. Fryer, T. Morgan, 2010, Molecular Syndromology.

Hereditary vocal cord palsy.

A. Fryer, A. Karkanevatos, I. Khodaei, 2003, International Journal of Pediatric Otorhinolaryngology.

Genetic testing of children, Report of a Working Party of the British Society for Human Genetics

M. Parker, A. Clarke, A. Fryer, 2010 .

POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations)

A. Fryer, 1991 .

Connecting with connexins

A. Fryer, Penelope Williams, A. Memon, 2013, The Australasian journal of dermatology.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

The clinical spectrum of mitochondrial genetic disorders

R. Newbury-Ecob, A. Fryer, 2008 .

Amyoplasia associated with a balanced de novo insertion of a segment of the long arm of chromosome 5 into chromosome 2.

M. Eisenhut, A. Fryer, M. Weindling, 2002, American journal of medical genetics.

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

R. Scott, C. Ogilvy, I. Awad, 1998, Human molecular genetics.

Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate

A. Fryer, P. Howard, C. E. Cramp, 1995, Clinical genetics.

Child with fronto-facio-nasal dysplasia, Hirschsprung's disease and hypospadias.

A. Fryer, 1993, Clinical dysmorphology.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review

M. Irving, W. Drake, A. Fryer, 2019, Orphanet Journal of Rare Diseases.

Porphyria cutanea tarda and haemochromatosis: a family study.

G. Williams, A. Fryer, G. Elder, 1990, Gut.

Tylosis oesophageal cancer mapped

D. Bishop, J. Bodmer, I. Leigh, 1994, Nature Genetics.

Distal arthrogryposis type IIB: Unreported ophthalmic findings

A. Fryer, S. Kaye, J. Sahni, 2004, American journal of medical genetics. Part A.

Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?

A. Fryer, A. Thomson, M. Neugebauer, 1999, Journal of medical genetics.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics

D. Craufurd, A. Fryer, C. Wright, 2002, Journal of medical genetics.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

Wagner-Stickler syndrome. gene in a family with Exclusion of COL2A1 as a candidate

P. Harper, M. Upadhyaya, A. Fryer, 2009 .