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List of works by David FitzPatrick

'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).

scientific article

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

scientific article

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

scientific article published on November 2014

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

scientific article published on 23 June 2015

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

scientific article published on 21 April 2016

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

scientific article published on 01 May 2006

A case of Menkes syndrome with pyloric stenosis: an effect of copper deficiency on NOS1?

scientific article published on 01 April 1999

A chromosomal deletion map of human malformations.

scientific article

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

scientific article

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

scientific article

A new complementation assay for peroxisome-deficient cell lines

scientific article

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

scientific article

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

scientific article published on 24 January 2016

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

scientific article published on 3 September 2014

A trans-acting protein effect causes severe eye malformation in the Mp mouse

scientific journal article

A3243G mitochondrial mutation associated with polymicrogyria

scientific article published in October 2003

Absence ofSIX6Mutations in Microphthalmia, Anophthalmia, and Coloboma

scientific article published on 01 November 2004

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.

scientific article published on January 2012

An excess of chromosome 1 breakpoints in male infertility

article

Anophthalmia and microphthalmia

scientific article

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

scientific article

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

scientific article

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

article

Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations

scientific article

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

scientific article

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

scientific article published on 01 March 2018

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

scientific article

Characterization of a cDNA library enriched for a novel peroxisomal gene.

scientific article published on December 1996

Chromosome analysis: what and when to request

scientific article

Clinical and genetic aspects of KBG syndrome.

scientific article

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

scientific article

Clinical and molecular genetic features of ARC syndrome

scientific article published on 01 August 2006

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

scientific article published on 30 November 2016

Clinical phenotype of desmosterolosis

article

Clinical utility gene card for: Cornelia de Lange syndrome

scientific article

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scientific article published in Nature

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

scientific article published on 10 October 2004

Cornelia de Lange Syndrome

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287-1296

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

scientific article published on 01 May 2010

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

scientific article published in June 2007

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

scientific article published on 18 March 2017

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

De novo mutations in regulatory elements in neurodevelopmental disorders.

scientific article

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

scientific article published on March 1, 2003

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

scientific article published on 15 June 2015

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

scientific article published on 22 June 2005

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

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

scientific article published on 01 December 2002

Developmental eye disorders

scientific article

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

scientific article published on 01 October 2018

Diagnostically relevant facial gestalt information from ordinary photos

scientific article published on 24 June 2014

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015

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

scientific article published on 20 December 2013

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

scientific article published on 19 October 2009

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

scientific article

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

scientific article published in August 2016

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

scientific article published on 5 April 2018

Enhancer-adoption as a mechanism of human developmental disease

scientific article published on 20 October 2011

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

scientific article published on 6 December 2010

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

scientific article published in August 2014

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

scientific article published on 27 March 2008

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

scientific article published in May 2007

FRA2A is a CGG repeat expansion associated with silencing of AFF3

scientific article

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

scientific article

Filling in the gaps in cranial suture biology

scientific article

Fine tuning of craniofacial morphology by distant-acting enhancers

scientific article

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

scientific article published on 30 May 2019

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

scientific article

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

scientific article

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

scientific article

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

scientific article

Genetics of disease

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

scientific article published on 19 April 2017

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

scientific article

Heterozygous mutations of OTX2 cause severe ocular malformations

scientific article

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

scientific article

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

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

scientific article (publication date: March 2009)

Human-specific gain of function in a developmental enhancer

scientific article published on September 2008

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

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

scientific article published on 11 March 2019

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

scientific article

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

scientific article

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

scientific article published on 4 April 2007

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.

scientific article published in February 2005

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

scientific article

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

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

scientific article

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

scientific article published on 3 February 2013

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

scientific article published on October 2003

MS-PCR assay to detect 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase gene

scientific article published on 01 August 1998

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

scientific article

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

scientific article published on 12 June 2012

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

scientific article

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

scientific article

Mutations in SOX2 cause anophthalmia

scientific article

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

scientific article

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

scientific article

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

scientific article

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

scientific article published in April 2018

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

scientific article published on 20 July 2012

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

scientific article

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

scientific article

Paediatric genomics: diagnosing rare disease in children

scientific article published on 5 February 2018

Phenotypes and genotypes in individuals with SMC1A variants.

scientific article published on 26 May 2017

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

scientific article published on 12 February 2018

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

scientific article published on 01 July 2019

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

scientific article published on 3 March 2016

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

scientific article published in July 2014

Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

Recurrences of trisomy 18 and trisomy 13 after trisomy 21.

scientific article published in June 1989

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

scientific article published on 08 November 2019

Resequencing at scale in neurodevelopmental disorders

scientific article published in March 2017

Response to Comment on "Human-Specific Gain of Function in a Developmental Enhancer"

scientific article published in Science

Returning genome sequences to research participants: Policy and practice

scientific article published on 24 February 2017

Role of SOX2 mutations in human hippocampal malformations and epilepsy

scientific article published in March 2006

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

scientific article

SOX2 anophthalmia syndrome

scientific article published in May 2005

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

scientific article published on 18 July 2016

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

scientific article published in April 2003

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

scientific article

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

scientific article (publication date: 2014)

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

scientific article published on 20 October 2016

The clinical significance of small copy number variants in neurodevelopmental disorders

scientific article

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

scientific article

The genetic architecture of aniridia and Gillespie syndrome

scientific article published on 22 September 2018

The genetic architecture of microphthalmia, anophthalmia and coloboma

scientific article published on 22 May 2014

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The molecular basis of malonyl-CoA decarboxylase deficiency.

scientific article

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

scientific article published on 14 December 2007

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

scientific article

Transcriptome analysis of human autosomal trisomy

scientific article published on 01 December 2002

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

Variant detection sensitivity and biases in whole genome and exome sequencing

scientific article

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

article

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

scientific article

Δ3,5-Δ2,4-Dienoyl-CoA Isomerase from Rat Liver

scientific article published in Journal of Biological Chemistry

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