D. Fitzpatrick

J. Clayton-Smith, J. Little, D. Fitzpatrick, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

D. Grozeva, P. Kind, H. R. Crollius, 2020, bioRxiv.

Phenotype in SMC 1 A Phenotypes and Genotypes in Individuals with SMC 1 A Mutations

Chris, Valérie, Saskia M. J. Hopman, 2018 .

Phenotypes and genotypes in individuals with SMC1A variants

Saskia M. J. Hopman, I. Krantz, D. Horn, 2017, American journal of medical genetics. Part A.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

A chromosomal deletion map of human malformations.

S Holloway, D. Fitzpatrick, A. Schinzel, 1998, American journal of human genetics.

De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia

D. Fitzpatrick, M. Whiteford, S. Joss, 2003, Clinical genetics.

A locus for isolated cleft palate, located on human chromosome 2q32.

A. Green, D. Bonthron, A. Markham, 1999, American journal of human genetics.

Genetic aspects of admissions to a paediatric intensive care unit.

J. Tolmie, D. Fitzpatrick, C. Skeoch, 1991, Archives of disease in childhood.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

of the month Zellweger syndrome and associated phenotypes

D. Fitzpatrick, 2022 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, bioRxiv.

Quantifying the contribution of recessive coding variation to developmental disorders

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

James D Stephenson, Patrick J. Short, M. Hurles, 2017 .

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

J. Prendergast, D. Soares, D. Fitzpatrick, 2017, Human mutation.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

H. Hartung, D. Fitzpatrick, N. Verpoorten, 2003, American journal of human genetics.

Mutants: On Genetic Variety and the Human Body

D. Fitzpatrick, 2004 .

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

M. Hurles, J. Gécz, J. Barrett, 2018, bioRxiv.

The genetic architecture of aniridia and Gillespie syndrome

D. Fitzpatrick, H. N. Hall, K. Williamson, 2018, Human Genetics.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

De novo mutations in fetal brain specific enhancers play a significant role in severe intellectual disability

D. Fitzpatrick, Inês Cebola, Matías G De Vas, 2019 .

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

W. Bickmore, D. Fitzpatrick, G. Grimes, 2019, Nature Communications.

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

W. Bickmore, D. Fitzpatrick, G. Grimes, 2019, Nature Communications.

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

M. Hurles, H. Firth, C. Semple, 2022, medRxiv.

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

H. Campbell, N. Bradshaw, M. Porteous, 1998, European Journal of Human Genetics.

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Explorer A rare de novo nonsense mutation in OTX 2 causes early onset retinal dystrophy and pituitary dysfunction

G. Holder, D. Fitzpatrick, A. Webster, 2018 .

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

G. Holder, D. Fitzpatrick, A. Webster, 2009, Molecular vision.

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.

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3

D. Fitzpatrick, R. Minns, L. Myles, 2005, American journal of medical genetics. Part A.

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

D. Fitzpatrick, R. Fingerhut, B. Olgemöller, 2003, Clinical chemistry.

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

R. Regan, S. Ennis, J. Crolla, 2011, European Journal of Human Genetics.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29

S. Scherer, M. Shago, H. Tanke, 2016 .

Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe—EUROCRAN Study

J. Little, W. Shaw, M. Rubini, 2017, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

D. Fitzpatrick, M. Whiteford, J. Fantes, 2010, PloS one.

Bilateral renal agenesis / hypoplasia / dysplasia ( BRAHD )

D. Fitzpatrick, M. Whiteford, J. Fantes, 2010 .

Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla

R. Evans, W. Alaynick, M. Fisher, 2010, Human molecular genetics.

Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part II: Biochemical and Genetic Analysis

J. Clayton-Smith, J. Little, D. Fitzpatrick, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

K. White, M. Econs, D. Fitzpatrick, 2005, American journal of human genetics.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

Wieczorek, Dagmar, Rosanna, 2011 .

‘Crommelin-type’ symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)

J. Opitz, D. Fitzpatrick, J. Fantes, 2010, Clinical dysmorphology.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Beckwith–Wiedemann‐like macroglossia and 18q23 haploinsufficiency

D. Fitzpatrick, M. Vazquez, R. Kooy, 2007, American journal of medical genetics. Part A.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

I. Krantz, D. Fitzpatrick, S. Banka, 2022, Brain : a journal of neurology.

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

M. Hurles, H. Firth, D. Fitzpatrick, 2020, Genetics in Medicine.

Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse

I. Jackson, D. Adams, D. Fitzpatrick, 2022, bioRxiv.

MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency

D. Fitzpatrick, A. Ribes, D. Thorburn, 2003, Human mutation.

BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.

D. Fitzpatrick, P. Mullen, S. Langdon, 1997, British Journal of Cancer.

Brcai 5382insc Mutation in Sporadic and Familial Breast and Ovarian Carcinoma in Scotland Materials and Methods Subjects Dna Extraction from Tumours

D. Fitzpatrick, P. Mullen, S. Langdon, 2022 .

Resequencing at scale in neurodevelopmental disorders

D. Fitzpatrick, D. FitzPatrick, 2017, Nature Genetics.

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

F. Elmslie, D. Soares, C. Abbott, 2016, Molecular genetics & genomic medicine.

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

I. Krantz, M. Kliewer, D. Fitzpatrick, 2007, American journal of medical genetics. Part A.

Novel de novo EEF 1 A 2 missense mutations causing epilepsy and intellectual disability

F. Elmslie, D. Soares, C. Abbott, 2016 .

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

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

Edinburgh Research Explorer Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

J. Clayton-Smith, K. Millen, L. Medne, 2018 .

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature 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.

A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse

I. Jackson, M. Fisher, D. Fitzpatrick, 2013, PLoS genetics.

SOX2 anophthalmia syndrome

B. Lorenz, S. Sisodiya, K. Bushby, 2005, American journal of medical genetics. Part A.

Explorer A Secreted WNT-Ligand Binding Domain of FZD 5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma

A. Swaroop, Tiansen Li, R. Ratnapriya, 2016 .

Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations

M. Hurles, J. Barrett, H. Firth, 2018, bioRxiv.

A3243G mitochondrial mutation associated with polymicrogyria.

D. Fitzpatrick, D. Pilz, W. Keng, 2003, Developmental medicine and child neurology.

Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).

D. Fitzpatrick, R. Murray, P. M. Ellis, 2002, Clinical dysmorphology.

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Anophthalmia including next-generation sequencing-based approaches

D. Fitzpatrick, B. Brooks, M. Moosajee, 2019, European Journal of Human Genetics.

Anophthalmia and microphthalmia

D. Fitzpatrick, Amit S Verma, 2007, Orphanet journal of rare diseases.

Clinical and genetic aspects of KBG syndrome

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

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region

Alison M. Male, D. Fitzpatrick, A. Davies, 2002, European Journal of Human Genetics.

Genetic registers in clinical practice: a survey of UK clinical geneticists

D. Fitzpatrick, H. Kingston, J. Dean, 2000, Journal of medical genetics.

Genetic registers in clinical practice

D. Fitzpatrick, J. Dean, P. Farndon, 2000 .

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jeffrey N. Dudley, Julie C. Sapp, R. Holt, 2019, Journal of Medical Genetics.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

SOX2-Related Eye Disorders

D. Fitzpatrick, K. Williamson, D. FitzPatrick, 2014 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

The genetic architecture of microphthalmia, anophthalmia and coloboma.

D. Fitzpatrick, K. Williamson, D. FitzPatrick, 2014, European journal of medical genetics.

Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters

D. Fitzpatrick, T. Young, T. Bardakjian, 2008, American journal of medical genetics. Part A.

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

C. Hayward, D. Fitzpatrick, L. Faivre, 2006, American journal of medical genetics. Part A.

Developmental eye disorders.

D. Fitzpatrick, V. van Heyningen, D. FitzPatrick, 2005, Current opinion in genetics & development.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Long-range regulation at the SOX9 locus in development and disease

D. Fitzpatrick, S. Lyonnet, P. Farlie, 2009, Journal of Medical Genetics.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

Genetic Metabolic Disease

D. Fitzpatrick, 2007 .

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

S. Sisodiya, D. Fitzpatrick, S. Lynch, 2007, European Journal of Human Genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

D. Fitzpatrick, C. Gerth-Kahlert, R. Guthoff, 2013, Molecular genetics & genomic medicine.

Mutations in SOX2 cause anophthalmia

C. Hayward, D. Fitzpatrick, S. Lynch, 2003, Nature Genetics.

Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22)

D. Fitzpatrick, B. Fleck, D. Morrison, 2002, The British journal of ophthalmology.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Identification of SATB2 as the cleft palate gene on 2q32-q33.

D. Bonthron, H. Firth, C. Hayward, 2003, Human molecular genetics.

The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland.

D. Fitzpatrick, T. Hargreave, R. Donat, 1997, British journal of urology.

Chromosome analysis: what and when to request

D. Fitzpatrick, F. Sharkey, E. Maher, 2005, Archives of Disease in Childhood.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Zellweger syndrome and associated phenotypes.

D. Fitzpatrick, 1996, 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.

Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.

D. Fitzpatrick, David R FitzPatrick, D. FitzPatrick, 2005, Trends in genetics : TIG.

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

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

The clinical significance of small copy number variants in neurodevelopmental disorders

A. Ekici, D. Fitzpatrick, C. Thiel, 2014, Journal of Medical Genetics.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

H. Hartung, D. Fitzpatrick, N. Verpoorten, 2003, American journal of human genetics.

A general method for the detection of large CAG repeat expansions by fluorescent PCR.

D. Goudie, D. Fitzpatrick, D J Brock, 1996, Journal of medical genetics.

De novo mutations in regulatory elements cause neurodevelopmental disorders

Caroline F. Wright, Alejandro Sifrim, Helen V. Firth, 2017, bioRxiv.

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

M. Hurles, P. Danecek, H. Firth, 2020, American journal of human genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Allen D. Delaney, H. Baier, P. Kwok, 2010, PloS one.

A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families

Martin S. Taylor, S. Scherer, E. Fombonne, 2014, Human mutation.

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

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

The gene for cherubism maps to chromosome 4p16.3.

A. Sigurdsson, M. Stratton, N. Rahman, 1999, American journal of human genetics.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

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

Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

M. Marazita, J. Murray, D. Fitzpatrick, 2005, PLoS genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American journal of human genetics.

Disruption of an AP-2α binding site in an IRF6 enhancer is strongly associated with cleft lip

Axel Visel, Len A. Pennacchio, Jeffrey C. Murray, 2008, Nature Genetics.

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 .

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

Birgit Lorenz, Dorothy A. Thompson, Gavin Arno, 2014, JAMA ophthalmology.

Heterozygous mutations of OTX2 cause severe ocular malformations.

B. Lorenz, S. Sisodiya, A. Fielder, 2005, American journal of human genetics.

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

H. Campbell, D. Fitzpatrick, I. Hanson, 2002, Journal of medical genetics.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Ryan L. Collins, D. MacArthur, Daisuke Sato, 2017, Nature Genetics.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

B. D. de Vries, A. Collins, J. Barber, 2005, American journal of human genetics.

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome

Martin S. Taylor, C. Semple, D. Fitzpatrick, 2021, bioRxiv.

De novo variants in population constrained fetal brain enhancers and intellectual disability

D. Fitzpatrick, Inês Cebola, J. Ferrer, 2019, bioRxiv.

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.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Axel Visel, Morad Ansari, Arnold Munnich, 2014, Human mutation.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

D. Grozeva, P. Kind, J. Prendergast, 2021, PloS one.

Variant detection sensitivity and biases in whole genome and exome sequencing

Alison M. Meynert, Morad Ansari, David R. FitzPatrick, 2014, BMC Bioinformatics.

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

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

D. Eccles, D. Evans, W. Newman, 2013, Nature Genetics.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Recurrences of trisomy 18 and trisomy 13 after trisomy 21

D. Fitzpatrick, E. Boyd, 1989, Human Genetics.

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

M. Hurles, D. Fitzpatrick, C. Wright, 2022, medRxiv.

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Tomas W. Fitzgerald, M. Hurles, H. Firth, 2019, Nature Communications.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

D. Fitzpatrick, R. C. Rogers, P. Turnpenny, 2006, Human molecular genetics.

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

D. Fitzpatrick, M. Cortón, M. Moosajee, 2020, European Journal of Human Genetics.

Familial recurrence of SOX2 anophthalmia syndrome

D. Fitzpatrick, T. Young, T. Bardakjian, 2016 .

Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers

A. Carothers, D. Fitzpatrick, C. Brewer, 2002, Journal of medical genetics.

Clinical utility gene card for: Cornelia de Lange syndrome

I. Krantz, R. Hennekam, D. Fitzpatrick, 2014, European Journal of Human Genetics.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

L. Vissers, R. Pfundt, B. D. de Vries, 2017, American journal of human genetics.

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

R. Hennekam, D. Fitzpatrick, R. Hennekam, 2010, American journal of medical genetics. Part A.

Clinical and molecular genetic features of ARC syndrome

Colin A. Johnson, E. Génin, H. Mandel, 2006, Human Genetics.

Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

P. Hammond, J. Goodship, D. Fitzpatrick, 2017, American journal of medical genetics. Part A.

A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH

D. Fitzpatrick, L. Harewood, W. Lam, 2006, American journal of medical genetics. Part A.

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

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

Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

David I. Wilson, Stephen W. Wilson, Thomas A. Hawkins, 2015, Nature Communications.

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

D. Fitzpatrick, E. Maher, C. Brewer, 1998, Journal of medical genetics.

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.

S Holloway, D. Fitzpatrick, A. Schinzel, 1999, American journal of human genetics.

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

N. Rahman, J. Schouten, Y. Gillerot, 2005, Journal of Medical Genetics.

Partial NSD 1 deletions cause 5 % of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

J. Schouten, Y. Gillerot, A. Irrthum, 2005 .

Returning genome sequences to research participants: Policy and practice

Matthew E Hurles, Caroline F Wright, Anna Middleton, 2017, Wellcome open research.

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

R Frank Kooy, Dominique Smeets, A. Smits, 2007, American journal of human genetics.

Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders

D. Fitzpatrick, Ian Simpson, A. Laín, 2021, medRxiv.

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Matthew E Hurles, Caroline F Wright, Elena Prigmore, 2019, Genome research.

Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations

M. Hurles, J. Barrett, H. Firth, 2018, bioRxiv.

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Fiona Cunningham, Archie Campbell, David R. FitzPatrick, 2019, Nature Communications.

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

M. Hurles, W. McLaren, S. Hunt, 2018, bioRxiv.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

J. Clayton-Smith, J. Goodship, H. Stewart, 2008, American journal of human genetics.

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.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, J. Clayton-Smith, 2017, Investigative ophthalmology & visual science.

Explorer Novel PEX 11 B Mutations Extend the Peroxisome Biogenesis Disorder 14 B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, J. Clayton-Smith, 2017 .

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

E. Tobias, B. Lorenz, J. Hurst, 2019, Genetics in Medicine.

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Patrick J. Short, M. Hurles, L. Vissers, 2019, bioRxiv.

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

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

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

R. Pfundt, A. Wilkie, K. Gripp, 2021, Human mutation.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

The Gene for Cherubism Maps to Chromosome

A. Sigurdsson, M. Stratton, N. Rahman, 2001 .

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

E. Zackai, J. Clayton-Smith, K. Millen, 2007, American journal of human genetics.

Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs.

D. Fitzpatrick, A. Ryan, T. Marshall, 1999, American journal of medical genetics.

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

W. Reardon, D. Fitzpatrick, R. Kelley, 2006, European journal of medical genetics.

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

C. van Broeckhoven, J. Martín, D. Fitzpatrick, 1997, Journal of neurology, neurosurgery, and psychiatry.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

Explorer Mutations that cause osteoglophonic dysplasia define novel roles for FGFR 1 in bone elongation

K. White, M. Econs, D. Fitzpatrick, 2017 .

Deciphering Developmental Disorders

N. Carter, M. Hurles, J. Barrett, 2012 .

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

J. Clayton-Smith, A. Toutain, S. Mansour, 2009, European Journal of Human Genetics.

The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development

E. Eyras, D. Fitzpatrick, J. Cáceres, 2016, RNA biology.

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

E. Behr, M. Simpson, D. Tester, 2018, Journal of the American College of Cardiology.

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage

B. Kerem, D. Fitzpatrick, B. Winnepenninckx, 2007, Journal of Medical Genetics.

The 12 q 14 microdeletion syndrome : six new cases confirming the role of HMGA 2 in growth

R. Regan, S. Ennis, J. Crolla, 2011 .

Transcriptome analysis of human autosomal trisomy.

N. Hastie, A. Carothers, D. Fitzpatrick, 2002, Human molecular genetics.

Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and genetic diagnoses.

D. Fitzpatrick, J. Boorman, P. Raine, 1994, Journal of medical genetics.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

G. J. Swaminathan, M. Hurles, R. Siebert, 2016, American journal of human genetics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.

N. Carter, D. Fitzpatrick, J. Murray, 2012, Clinical Dysmorphology.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

S. Scherer, A. C. Lionel, C. Marshall, 2009, Cytogenetic and Genome Research.

The molecular basis of malonyl-CoA decarboxylase deficiency.

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

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 .

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

S. Sisodiya, M. Matarin, M. Dixon, 2013, Human molecular genetics.

paediatric intensive care unit . Genetic aspects of admissions to a

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

An estimation of the number of susceptibility loci for isolated cleft palate.

M. Farrall, D. Fitzpatrick, D. FitzPatrick, 1993, Journal of craniofacial genetics and developmental biology.

Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.

D. Fitzpatrick, L. Strain, A. Todd, 1997, Journal of medical genetics.

Clinical phenotype of desmosterolosis.

R. Winter, K. Mills, M. Porteous, 1998, American journal of medical genetics.

Desmosterolosis: a new inborn error of cholesterol biosynthesis

K. Mills, D. Fitzpatrick, J. Keeling, 1996, The Lancet.

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

D. Horn, K. Rosendahl, D. Fitzpatrick, 2015, European journal of medical genetics.

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Martin S. Taylor, M. Hurles, C. Anderson, 2014, American journal of human genetics.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Mark T. Handley, I. Jackson, D. Fitzpatrick, 2015, Open Biology.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2019, PLoS genetics.

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2018, bioRxiv.

A school based study of children with learning disability indicates poor levels of genetic investigation

D. Fitzpatrick, S. Halpin, P. Jackson, 2002, Journal of medical genetics.

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Martin S. Taylor, David I. Wilson, E. Haan, 2014, PLoS genetics.

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

A. Christoforou, D. Fitzpatrick, I. Hanson, 2004, Investigative ophthalmology & visual science.

Paediatric genomics: diagnosing rare disease in children

David R. FitzPatrick, Caroline F. Wright, Helen V. Firth, 2018, Nature Reviews Genetics.

FRA 2 A Is a CGG Repeat Expansion Associated with Silencing of AFF 3

Martin S. Taylor, David I. Wilson, E. Haan, 2014 .

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

M. Vikkula, A. Winterpacht, M. Fisher, 2009, Journal of Medical Genetics.

Disruption of ST 5 is associated with mental retardation and multiple congenital anomalies

M. Vikkula, A. Winterpacht, M. Fisher, 2010 .

Iris coloboma with iris heterochromia: a common association.

D. Fitzpatrick, B. Fleck, D. Morrison, 2000, Archives of ophthalmology.

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

D. Fitzpatrick, S. Joss, D. Urquhart, 2018, Pediatrics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .