J. Crolla

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

N. Carter, V. Maloney, J. Crolla, 2008, American journal of human genetics.

J. D. Baum, J. Crolla, P. Jacobs, 1995, Nature Genetics.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Swaroop Aradhya, Michael R Rossi, Vineith Kaul, 2011, Genetics in Medicine.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Urvashi Surti, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

J. Crolla, N. Atkey, I. Cross, 1996, Journal of medical genetics.

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

J. Crolla, V. van Heyningen, 2002, American journal of human genetics.

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

J. Rosenfeld, V. Maloney, J. Crolla, 2013, American journal of medical genetics. Part A.

Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment

J. Crolla, J. Waters, A. Caine, 2005, The Lancet.

Intrachromosomal triplication of distal 7p.

J. Crolla, H. Rivera, J. Kunz, 1998, Journal of medical genetics.

Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))

Stephan J Sanders, D. Ledbetter, U. Surti, 2011 .

Alagille syndrome with deletion 20p12.2–p12.3 and hypoplastic left heart

Shuwen Huang, J. Crolla, P. Turnpenny, 2007, Clinical dysmorphology.

Billateral Polycystic Kidneys in a Girl with WAGR Syndrome

J. Crolla, Z. Gucev, V. Tasic, 2011, Indian journal of pediatrics.

Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

J. Crolla, J. Kraker, J. Hoovers, 2007, Journal of Medical Genetics.

Bilateral preaxial polydactyly in a WAGR syndrome patient

J. Crolla, P. Radice, S. Manoukian, 2005, American journal of medical genetics. Part A.

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.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, American journal of medical genetics. Part A.

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

J. Crolla, S. Morris, G. Ambler, 2017 .

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines

J. Crolla, P. Jacobs, D. Baldwin, 2003 .

P.3.033 Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines

J. Crolla, P. Jacobs, D. Baldwin, 2003, European Neuropsychopharmacology.

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome.

J. Crolla, N. S. Thomas, I. Temple, 2011, European journal of medical genetics.

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Shuwen Huang, V. Maloney, J. Crolla, 2008, European Journal of Human Genetics.

Clinical utility gene card for: WAGR syndrome

J. Crolla, A. Verloes, M. Hingorani, 2011, European Journal of Human Genetics.

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

J. Crolla, A. Verloes, C. Baumann, 2005, American journal of medical genetics. Part A.

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

J. Crolla, J. Martinez-Barbera, M. Dattani, 2011, Human mutation.

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.

J. Crolla, M. Bobrow, V. Dubowitz, 1986, American journal of medical genetics.

A highly complex rea(2;3;11) and aniridia by position effect

V. Maloney, J. Crolla, H. Rivera, 2006, Cytogenetic and Genome Research.

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

J. Crolla, F. L. Sitch, J. Harvey, 1995, Human Genetics.

Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break.

J. Crolla, H. Rivera, A. I. Vásquez, 1999, American journal of medical genetics.

FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.

J. Crolla, H. Rivera, N. Dennis, 1998, American journal of medical genetics.

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.

J. Crolla, 1998, American journal of medical genetics.

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.

J. Crolla, P. Howard, N. Dennis, 1997, American journal of medical genetics.

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

E. Hatchwell, J. Crolla, J. Barber, 1996, The Journal of pediatrics.

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11.

E. Hatchwell, J. Crolla, K. Temple, 1998, American journal of medical genetics.

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

J. Crolla, I. Temple, D. Mackay, 2010, American journal of medical genetics. Part A.

Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in‐situ hybridization

J. Crolla, F. Ross, D. White, 1995, British journal of haematology.

Male breast cancer, age and sex chromosome aneuploidy

A. Ashworth, V. Maloney, J. Crolla, 2013, British Journal of Cancer.

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

J. Crolla, I. Moore, N. Maclachlan, 1997, Journal of medical genetics.

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH

J. Crolla, S. Leonard, S. Smithson, 2010, American journal of medical genetics. Part A.

A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome

D. Skuse, J. Crolla, P. Jacobs, 1999, Journal of medical genetics.

A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

J. Crolla, P. Jacobs, N. Dennis, 1992, Journal of medical genetics.

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)

J. Crolla, P. Jacobs, Simon N. Thomas, 2004, American journal of medical genetics. Part A.

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

Shuwen Huang, V. Maloney, J. Crolla, 2008, European journal of medical genetics.

Chromosomal imbalance letter A 2 . 3 Mb deletion of 17 q 24 . 2 e q 24 . 3 associated with ‘ Carney Complex plus ’

Shuwen Huang, V. Maloney, J. Crolla, 2008 .

FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

J. Crolla, E. Bastos, J. D. Almeida, 2000 .

Functional Xp disomy and hypomelanosis of Ito.

J. Crolla, H. Rivera, D. Robinson, 2000, Archives of medical research.

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

J. Crolla, V. van Heyningen, J. Fantes, 1997, Journal of medical genetics.

A FISHapproach todefining theextentand possible clinical significance ofdeletions atthe WAGR locus

J. Crolla, C. Oley, J. Gray, 1997 .

De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?

J. Crolla, N. Allen, D. O'Donovan, 2014, American journal of medical genetics. Part A.

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

J. Rosenfeld, L. Shaffer, J. Crolla, 2013, Prenatal diagnosis.

National Genetics Reference Laboratory ( Wessex ) Technology Assessment Comparison for cytogenetics array platforms hardware and software for use in identifying copy number aberrations in constitutional disorders July 2010

Shuwen Huang, J. Crolla, 2010 .

An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.

C. Cooper, J. Crolla, D. Johnston, 1991, Journal of medical genetics.

Cytogenetics 40 years on.

J. Crolla, 1996, Journal of clinical pathology.

A test of the production line hypothesis of mammalian oogenesis

J. Crolla, P. Polani, 1991, Human Genetics.

Three patients with ring (X) chromosomes and a severe phenotype.

J. Crolla, A. Collins, P. Jacobs, 1993, Journal of medical genetics.

Meiotic crossing over exchange in the female mouse visualised by BUdR substitution

J. Crolla, M. Seller, P. Polani, 1979, Nature.

An Experimental Approach to Female Mammalian Meiosis: Differential Chromosome Labeling and an Analysis of Chiasmata in the Female Mouse

J. Crolla, M. Seller, P. Polani, 1981 .

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

J. Crolla, V. van Heyningen, K. Williamson, 2008, American journal of medical genetics. Part A.

Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion

J. Crolla, A. Verloes, D. Lacombe, 2005, European Journal of Human Genetics.

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.

R. Lovell-Badge, Shuwen Huang, J. Crolla, 2008, The Journal of clinical endocrinology and metabolism.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

A. Wyatt, J. Crolla, A. Fielder, 2007, British Journal of Ophthalmology.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

V. Maloney, J. Crolla, N. S. Thomas, 2005, American journal of human genetics.

X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

E. Hatchwell, J. Crolla, D. Robinson, 1996, Journal of medical genetics.

The Use of Mouth Brushings for Screening Girls Who Present with Inguinal Hernia for Complete Androgen Insensitivity Syndrome

J. Crolla, D. Burge, D. Robinson, 2012, European Journal of Pediatric Surgery.

A mosaic 45,X/46,X,4(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique

J. Crolla, J. Llerena, 1988, Human Genetics.

Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.

J. Crolla, Z. Docherty, M. Smith, 1989, Journal of medical genetics.

Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review

J. Crolla, P. S. Malone, I. Sugarman, 1994, Clinical genetics.

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

J. Crolla, P. Jacobs, P. Betts, 1990, Annals of human genetics.

Nonisotopic In Situ Hybridization

J. Crolla, M. Adinolfi, 1994 .

Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis.

J. Crolla, L. Gole, K. Loke, 2008, Singapore medical journal.

Spontaneous induction of an homologous robertsonian translocation, Rb(11.11) in a murine embryonic stem cell line.

J. Crolla, D. Whittingham, D. Brown, 1990, Genetical research.

Prevention of spinal neural tube defects in the mouse embryo by growth retardation during neurulation.

J. Crolla, A. Copp, F. Brook, 1988, Development.

Distribution of the D15Z1 copy number polymorphism

J. Crolla, P. Jacobs, A. Cockwell, 2007, European Journal of Human Genetics.

A method for generating hybrids containing nonselected fragments of human chromosomes.

P. Goodfellow, J. Crolla, M. Bobrow, 1989, Genomics.

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

D. Ledbetter, S. Christian, J. Crolla, 1996, Human Genetics.

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

J. Crolla, N. S. Thomas, P. Jacobs, 2011, European Journal of Human Genetics.

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age

B. Ng, J. Crolla, J. Baptista, 2009, Journal of Medical Genetics.

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23‐week gestation fetus with atrioventricular septal defect

J. Crolla, M. Connarty, I. Moore, 2006, American journal of medical genetics. Part A.

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities

V. Maloney, J. Crolla, N. S. Thomas, 2005, Cytogenetic and Genome Research.

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

J. Crolla, P. Jacobs, S. Ennis, 2005, European Journal of Human Genetics.

Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes

J. Crolla, T. A. Wilkinson, 1993, Human Genetics.

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

J. Crolla, N. S. Thomas, P. Jacobs, 2003, American journal of human genetics.

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype

J. Crolla, M. Veltman, N. Dennis, 2003, Journal of medical genetics.

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

N. Carter, S. Gregory, J. Crolla, 2002, Human Genetics.

FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.

J. Crolla, H. Rivera, A. Cockwell, 2001, American journal of medical genetics.

An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations

J. Crolla, I. Moore, A. Cockwell, 2000, Journal of medical genetics.

A familial Xp+ chromosome, dup (Xq26.3-->qter).

J. Crolla, H. Rivera, A. I. Vásquez, 1995, Journal of medical genetics.

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.

J. Crolla, J. Barber, R. James, 1993, American journal of medical genetics.

A cytogenetic study of human spontaneous abortions using banding techniques

J. Crolla, E. Alberman, M. Creasy, 1976, Human Genetics.

Chromosome constitution of 500 infants dying during the perinatal period

J. Crolla, G. Machin, 1974, Humangenetik.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region

J. Crolla, N. S. Thomas, S. Healey, 1999, Human Genetics.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

J. Crolla, N. S. Thomas, S. Healey, 1999 .

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

D. K. Williams, J. Crolla, D. Duckett, 1998, Journal of medical genetics.

Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.

S. Schwartz, N. Spinner, J. Crolla, 2000, American journal of human genetics.

A three chromosome translocation involving two homologous chromosomes in a trisomic abortus

J. Crolla, P. Polani, M. Creasy, 1976, Clinical genetics.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Phenotypic variability of distal 22q11.2 copy number abnormalities

J. Crolla, A. Collins, Z. Stark, 2011, American journal of medical genetics. Part A.

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Gabriele, D. Church, W. Sanger, 2022 .

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

N. Carter, J. Crolla, S. Gribble, 2005, European Journal of Human Genetics.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

N. Carter, R. Sandstrom, H. Fiegler, 2005, Journal of Medical Genetics.

A novel 2.43 Mb deletion of 7q11.22–q11.23

Shuwen Huang, J. Crolla, M. Blyth, 2008, American journal of medical genetics. Part A.

A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9

J. Crolla, I. Temple, R. James, 1996, Prenatal diagnosis.

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

N. Carter, J. Crolla, A. Vianna-Morgante, 2009, Cytogenetic and Genome Research.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

N. Carter, H. Fiegler, J. Crolla, 2003, Journal of Medical Genetics.

Imbalances of chromosome 17 in medulloblastomas determined by comparative genomic hybridisation and fluorescence in situ hybridisation

J. Crolla, D. Ellison, J. Nicholson, 2000, Molecular pathology : MP.

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

C. Lese-Martin, N. Rahman, Shuwen Huang, 2009, American journal of medical genetics. Part A.

frequency of large gene deletions demonstrating broader phenotype and high SOX2 anophthalmia syndrome: twelve new cases

A. Wyatt, J. Crolla, A. Fielder, 2007 .

Clinical and molecular stratification of disease risk in medulloblastoma

J. Crolla, D. Ellison, J. Lunec, 2001, British Journal of Cancer.

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

Shuwen Huang, J. Crolla, S. Lynch, 2008, American journal of medical genetics. Part A.

Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene.

A. Hattersley, J. Crolla, S. Ellard, 2008, The Journal of clinical endocrinology and metabolism.

Perspective on the Technical Challenges Involved in the Implementation of Array-CGH in Prenatal Diagnostic Testing

Shuwen Huang, J. Crolla, E. Karampetsou, 2014, Molecular Biotechnology.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

R. Pfundt, A. Green, W. Reardon, 2011, European Journal of Human Genetics.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Prenatal mortality of trisomy 21 (Down's syndrome).

J. Crolla, M. Creasy, 1974, Lancet.

Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis

J. Crolla, H. White, L. Chitty, 2012, PloS one.

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions

J. Crolla, A. Collins, D. Robinson, 2004, Human Genetics.

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

Shuwen Huang, J. Crolla, A. Vianna-Morgante, 2010, American journal of medical genetics. Part A.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Pallister-Killian syndrome: a study of 22 British patients

Shuwen Huang, V. Maloney, J. Crolla, 2015, Journal of Medical Genetics.

A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.

J. Crolla, P. Jacobs, M. Mackenzie, 1992, Journal of medical genetics.

cytogenetic and molecular study

J. Crolla, P. Jacobs, J. Starr, 2022 .

Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion.

V. Maloney, J. Crolla, N. Canham, 2009, Clinical dysmorphology.

Chromosome banding in direct preparations of chorionic villi

J. Crolla, M. Bobrow, L. Zahed, 1988, Prenatal diagnosis.

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

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

X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1

Shuwen Huang, V. Maloney, J. Crolla, 2014 .

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

R. Allibone, J. Crolla, D. Ellison, 2002, British Journal of Cancer.

X inactivation analysis inafemale with hypomelanosis ofItoassociated withabalanced X;17translocation: evidence forfunctional disomyofXp

J. Crolla, 1996 .

Incontinentia pigmenti and X-autosome translocations

J. Crolla, M. Bobrow, T. Kajii, 1989, Human Genetics.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

Meiosis in trisomic female mice with Robertsonian translocations. I. Prophase pairing.

J. Crolla, P. Polani, H. J. Roberts, 1989, Cytogenetics and cell genetics.

Prenatal diagnosis – Authors' reply

J. Crolla, E. Maltby, J. Waters, 2005, The Lancet.

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities

J. Crolla, P. Jacobs, A. Cockwell, 2003, Human Genetics.

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).

E. Hatchwell, J. Crolla, I. Moore, 1996, Journal of medical genetics.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

A. Wyatt, J. Crolla, R. Newbury-Ecob, 2008, Human mutation.

Pseudotail as a feature of microphthalmia with linear skin defects syndrome.

J. Crolla, R. Newbury-Ecob, M. Alberry, 2011, Clinical dysmorphology.

A Search for Uniparental Disomy in Carriers of Supernumerary Marker Chromosomes

J. Crolla, I. Temple, R. James, 1995, European journal of human genetics : EJHG.

PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

J. Crolla, N. Foulds, D. Bunyan, 2010, Neurology.

Nonisotopic in situ hybridization. Clinical cytogenetics and gene mapping applications.

J. Crolla, M. Adinolfi, 1994, Advances in human genetics.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?

J. Crolla, J. V. van Lith, R. Wapner, 2014, Prenatal diagnosis.

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

B. Migeon, K. Davies, J. Crolla, 1995, Journal of medical genetics.

RAPID IN SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUE SAMPLES

J. Crolla, A. Cockwell, A. Fisher, 1996, Prenatal diagnosis.

A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a paracentric inversion

J. Crolla, M. Collinson, N. Dennis, 2004, American journal of medical genetics. Part A.

Complex Chromosomal Rearrangements

J. Crolla, M. Creasy, 1981, Clinical genetics.

A familial reciprocal translocation between three chromosomes

J. Crolla, M. Creasy, M. Daker, 1974, Humangenetik.

A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes.

J. Crolla, C. Towe, P. Cooper, 1993, Journal of medical genetics.

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay

J. Crolla, S. Ellard, M. Polak, 2010, American journal of medical genetics. Part A.