A. Swillen

发表

Peter J. Scambler, Lauren A. Bohm, Anne S. Bassett, 2015, Nature reviews. Disease primers.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

E. Zackai, B. Morrow, K. Devriendt, 2017, American journal of human genetics.

VEGF: A modifier of the del22q11 (DiGeorge) syndrome?

Ingeborg Stalmans, Marc Gewillig, Beverly Emanuel, 2003, Nature Medicine.

Laterality Preference and Cognition: Cross-Syndrome Comparison of Patients with Trisomy 21 (Down), del7q11.23 (Williams–Beuren) and del22q11.2 (DiGeorge or Velo-Cardio-Facial) Syndromes

V. Volterra, C. Deruelle, N. Philip, 2011, Behavior genetics.

Atypical Neuropsychological Profile in a Boy with 22q11.2 Deletion Syndrome Keywords:

L. Lagae, K. Devriendt, S. Sunaert, 2005, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome

A. Swillen, 2016, Current opinion in psychiatry.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

The psychopathological phenotype of velo-cardio-facial syndrome.

S. Tuinier, K. Devriendt, L. Curfs, 2002, Annales de Genetique.

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium

M. Owen, R. Gur, T. Lehner, 2017, Molecular Psychiatry.

A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?

S. Claes, W. Veling, H. Drexhage, 2018, Brain, Behavior, and Immunity.

Presenting symptoms in adults with the 22q11 deletion syndrome.

T. de Ravel, K. Devriendt, H. Van Esch, 2014, European journal of medical genetics.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Developmental Trajectories in 22q11.2 Deletion

D. McDonald-McGinn, A. Swillen, 2015 .

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.

H. Peeters, K. Devriendt, B. Maes, 2012, Genetic counseling.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

E. Zackai, R. Gur, D. Heine-Suñer, 2018, American journal of medical genetics. Part A.

The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.

K. Devriendt, J. Fryns, E. Legius, 1999, Genetic counseling.

Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.

J. Fryns, A. Swillen, M. Descheemaeker, 2002, Journal of intellectual disability research : JIDR.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

J. Vermeesch, J. Fryns, C. Le Caignec, 2005, European journal of medical genetics.

A normative chart for cognitive development in a genetically selected population

R. Kahn, R. Gur, T. van Amelsvoort, 2021, Neuropsychopharmacology.

Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.

A. Swillen, G. Van Buggenhout, E. Vergaelen, 2021, Journal of applied research in intellectual disabilities : JARID.

Renal and urological tract malformations caused by a 22q11 deletion.

K. Devriendt, J. Fryns, M. Gewillig, 1996, Journal of medical genetics.

Social phenotypes in genetic syndromes.

T. de Ravel, C. Oliver, A. Swillen, 2012, Journal of intellectual disability research : JIDR.

A cognitive decline precedes the onset of psychosis in patients with the 22q11.2 deletion syndrome

R. Kahn, R. Gur, Abraham Weizman, 2015 .

Mathematical disabilities in young primary school children with velo-cardio-facial syndrome.

L. Verschaffel, K. Devriendt, J. Fryns, 2006, Genetic counseling.

Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings

K. Devriendt, J. Fryns, A. Swillen, 2008 .

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

T. Shaikh, P. Kwok, M. Xiao, 2019, Genome research.

Cerebellar Hypoplasia in a Patient with Velo‐Cardio‐Facial Syndrome

K. Devriendt, J. Fryns, A. Swillen, 1996, Developmental medicine and child neurology.

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

K. Devriendt, P. Claes, G. Willems, 2017, Journal of dental research.

Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient’s perspective

B. Maes, K. Vansteelandt, A. Swillen, 2021, European Child & Adolescent Psychiatry.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

A catalog of hemizygous variation in 127 22q11 deletion patients

E. Zackai, R. Gur, S. Warren, 2016, Human Genome Variation.

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

K. Devriendt, S. Claes, H. Van Esch, 2015, European journal of medical genetics.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2

M. Owen, C. Marshall, Zhengdong D. Zhang, 2022 .

Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings

I. Zink, J. Breckpot, A. Swillen, 2022, Genes.

Intelligence, behaviour and psychosocial development in Turner syndrome. A cross-sectional study of 50 pre-adolescent and adolescent girls (4-20 years).

J. Fryns, H. van den Berghe, G. Massa, 1993, Genetic counseling.

Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium.

J. Steyaert, J. Fryns, A. Swillen, 1996, American journal of medical genetics.

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.

E. Eichler, J. Sebat, D. Ledbetter, 2022, The American journal of psychiatry.

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

E. Moss, A. Swillen, Sasja N. Duijff, 2018, American journal of medical genetics. Part A.

Mathematical difficulties in children with Velo-Cardio-Facial Syndrome: A cognitive characterisation

L. Verschaffel, B. Smedt, P. Ghesquière, 2008 .

The Coffin‐Siris syndrome: data on mental development, language, behavior and social skills in 12 children

J. Fryns, A. Swillen, N. Glorieux, 1995, Clinical genetics.

Ocular findings in children with a microdeletion in chromosome 22q11.2

K. Devriendt, I. Casteels, M. Gewillig, 2008, European Journal of Pediatrics.

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Stephan Eliez, Abraham Weizman, Wanda Fremont, 2014, The American journal of psychiatry.

PTEN mutation in a family with Cowden syndrome and autism.

L. Hoefsloot, J. Fryns, A. Swillen, 2001, American journal of medical genetics.

Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.

K. Devriendt, N. Rommel, B. Eyskens, 1999, Genetic counseling.

Deletion in chromosome region 22q11 in a child with CHARGE association

K. Devriendt, J. Fryns, A. Swillen, 1998, Clinical genetics.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

T. Shaikh, P. Kwok, M. Xiao, 2018, bioRxiv.

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.

K. Devriendt, J. Fryns, A. Swillen, 2000, American journal of medical genetics.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

A. Auton, T. Werge, E. Zackai, 2013, American journal of human genetics.

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.

T. van Amelsvoort, G. Klingberg, A. Lang, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

G. Klingberg, K. Sullivan, S. Eliez, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

A. Bassett, B. Marino, E. Boot, 2023, Genes.

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

B. Morrow, K. Devriendt, J. Vermeesch, 2019, Human molecular genetics.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

E. Zackai, C. Marshall, D. Zheng, 2018, Human molecular genetics.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Developmental trajectories in 22q11.2 deletion syndrome

D. McDonald-McGinn, A. Swillen, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.

R. Kahn, R. Gur, T. van Amelsvoort, 2015, JAMA psychiatry.

Title Cognitive decline preceding the onset of psychosis in patients with 22 q 11 . 2 deletion syndrome

R. Kahn, R. Gur, C. Bearden, 2015 .

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

John Wei, S. Scherer, E. Zackai, 2017, The American journal of psychiatry.

Pan-european landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium.

S. Chawner, M. V. D. van den Bree, B. Nowakowska, 2020, European journal of medical genetics.

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

K. Devriendt, J. Vermeesch, J. Fryns, 2003, European Journal of Human Genetics.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

S. Scherer, M. Owen, R. Gur, 2020, Nature Medicine.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Brian Chung, Therese van Amelsvoort, Gregory Costain, 2015, Genetics in Medicine.

Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome

Abraham Weizman, S. Claes, Y. Levy-Shraga, 2021, The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry.

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

T. van Amelsvoort, D. Campion, D. Hannequin, 2007, Human molecular genetics.

Familial deletions of chromosome 22q11: the Leuven experience.

K. Devriendt, N. Rommel, B. Eyskens, 1998, American journal of medical genetics.

Low prevalence of substance use in people with 22q11.2 deletion syndrome

T. van Amelsvoort, A. Bassett, E. Boot, 2019, British Journal of Psychiatry.

Parental report on socio-communicative behaviours in children with 22q11.2 deletion syndrome

I. Zink, E. Manders, A. Swillen, 2017 .

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research

R. Gur, A. Bassett, G. Repetto, 2023, Genes.

The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.

R. Gur, A. Bassett, G. Repetto, 2022, Journal of intellectual disability research : JIDR.

Polyhydramnios as a prenatal symptom of the DiGeorge/velo‐cardio‐facial syndrome

K. Devriendt, B. Eyskens, J. Fryns, 1998, Prenatal diagnosis.

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

K. Devriendt, J. Steyaert, B. Eyskens, 1997, Journal of medical genetics.

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome

K. Devriendt, R. Hermans, K. Op de beeck, 2016, American journal of medical genetics. Part A.

Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome.

K. Devriendt, C. Desloovere, H. Luts, 2016, Journal of speech, language, and hearing research : JSLHR.

Middle and inner ear malformations in velocardiofacial syndrome

K. Devriendt, I. Dhooge, A. Swillen, 2004, American journal of medical genetics. Part A.

Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.

A. Swillen, G. Van Buggenhout, E. Vergaelen, 2020, Current opinion in psychiatry.

Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome

A. Swillen, G. Van Buggenhout, Gilles Droogmans, 2019, Molecular Syndromology.

The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease

K. Devriendt, B. Eyskens, J. Fryns, 1996, European Journal of Pediatrics.

Lower cortisol levels and attenuated cortisol reactivity to daily-life stressors in adults with 22q11.2 deletion syndrome

T. van Amelsvoort, I. Myin-Germeys, D. Hernaus, 2019, Psychoneuroendocrinology.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

A. Lang, N. Williams, A. Plate, 2018, Neurology.

High prevalence of fatigue in adults with a 22q11.2 deletion syndrome

S. Claes, S. Kempke, A. Swillen, 2017, American journal of medical genetics. Part A.

Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia

M. Owen, Zhengdong D. Zhang, R. Gur, 2023, Molecular Psychiatry.

Psychotic disorder associated with 22q11.2 duplication syndrome

T. Amelsvoort, A. Swillen, J. Boermans, 2016, Psychiatry Research.

Turner syndrome patients as adults: a study of their cognitive profile, psychosocial functioning and psychopathological findings.

J. Fryns, H. van den Berghe, A. Swillen, 1993, Genetic counseling.

A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features.

H. Peeters, G. Massa, A. Swillen, 2020, Clinical dysmorphology.

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review.

L. Verschaffel, B. De Smedt, P. Ghesquière, 2009, Developmental disabilities research reviews.

Neurodevelopmental profile and stages of regression in Phelan–McDermid syndrome

L. Lagae, G. Buggenhout, A. Swillen, 2022, Developmental medicine and child neurology.

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

I. Zink, J. Breckpot, A. Swillen, 2021, American journal of medical genetics. Part A.

COMT Val158met genotype and striatal D2/3 receptor binding in adults with 22q11 deletion syndrome

M. Owen, T. van Amelsvoort, F. Baas, 2011, Synapse.

Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)

K. Devriendt, J. Fryns, B. De Smedt, 2007, Developmental medicine and child neurology.

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.

K. Devriendt, H. Feys, J. Fryns, 2005, Developmental medicine and child neurology.

Kinematic movement strategies in primary school children with 22q11.2 Deletion Syndrome compared to age- and IQ-matched controls during visuo-manual tracking.

K. Caeyenberghs, B. Smits-Engelsman, L. Janssens, 2010, Research in developmental disabilities.

Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update.

B De Smedt, K. Devriendt, J. Fryns, 2007, Journal of intellectual disability research : JIDR.

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants

I. Zink, D. McDonald-McGinn, C. Solot, 2023, Genes.

Referential communication abilities in children with 22q11.2 deletion syndrome

I. Zink, C. Solot, E. Manders, 2017, International journal of speech-language pathology.

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

T. de Ravel, K. Devriendt, H. Van Esch, 2012, Molecular Syndromology.

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.

J. Nevado, A. Swillen, Mónica Burdeus-Olavarrieta, 2023, European journal of medical genetics.

Basic number processing and difficulties in single-digit arithmetic: Evidence from Velo-Cardio-Facial Syndrome

Lieven Verschaffel, Bert De Smedt, Bert Reynvoet, 2009, Cortex.

Mathematical disabilities in children with velo-cardio-facial syndrome

B. De Smedt, L. Verschaffel, K. Devriendt, 2007, Neuropsychologia.

Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence.

K. Devriendt, J. Fryns, B. De Smedt, 2003, Genetic counseling.

Pulmonary atresia/ventricular septal defect associated with facial port‐wine stain and retinal vascular abnormality: A new constellation or deletion in chromosome 22q11.2?

K. Devriendt, I. Casteels, I. Stalmans, 2005, American journal of medical genetics. Part A.

Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID).

I. Zink, E. Manders, A. Swillen, 2018, Research in developmental disabilities.

Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes.

B. De Smedt, P. Ghesquière, A. Swillen, 2017, Developmental science.

Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method

T. van Amelsvoort, I. Myin-Germeys, J. Vorstman, 2020, Journal of neurodevelopmental disorders.

Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

I. Zink, N. Botting, E. Manders, 2017 .

Atypical language characteristics and trajectories in children with 22q11.2 deletion syndrome.

I. Zink, E. Manders, A. Swillen, 2018, Journal of communication disorders.

Velo-Cardio-Facial Syndrome: The cognitive spectrum in velo-cardio-facial syndrome

L. Campbell, A. Swillen, 2005 .

Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?

K. Devriendt, B. Maes, J. Cracco, 1999, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

M. Owen, T. van Amelsvoort, D. Linden, 2020, Translational Psychiatry.

Prospective control abilities during visuo-manual tracking in children with 22q11.2 Deletion syndrome compared to age- and IQ-matched controls.

K. Caeyenberghs, B. Smits-Engelsman, L. Janssens, 2010, Research in developmental disabilities.

Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.

K. Devriendt, N. Rommel, J. Fryns, 1999, Genetic counseling.

Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient’s perspective

B. Maes, K. Vansteelandt, A. Swillen, 2021, European Child & Adolescent Psychiatry.

Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys.

J. Fryns, H. van den Berghe, A. Swillen, 1995, Genetic counseling.

Developmental trajectories of structural and pragmatic language skills in school-aged children with Williams syndrome.

I. Zink, E. Manders, A. Swillen, 2016, Journal of intellectual disability research : JIDR.

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect

K. Devriendt, H. Feys, J. Fryns, 2005 .

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt

S. Lynch, A. van Haeringen, J. Breckpot, 2023, American journal of medical genetics. Part A.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome.

L. Verschaffel, K. Devriendt, B. Boets, 2008, Genetic counseling.

Bridging the Communication Gap Between People With Cognitive Impairments and Their Caregivers Using mHealth Apps: User-Centered Design and Evaluation Study With People With 22q11 Deletion Syndrome

K. Verbert, Robin De Croon, A. Swillen, 2023, JMIR human factors.

Parenting, family contexts, and personality characteristics in youngsters with VCFS.

P. Onghena, K. Devriendt, B. Maes, 2004, Genetic Counseling.

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome

K. Devriendt, C. Desloovere, V. Vander Poorten, 2019, American journal of medical genetics. Part A.

The Motor Profile of Primary School-Age Children with a 22q11.2 Deletion Syndrome (22q11.2DS) and an Age- and IQ-Matched Control Group

K. Caeyenberghs, B. Smits-Engelsman, A. Swillen, 2009, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

22q11.2 deletion syndrome

P. Scambler, J. Vermeesch, K. Sullivan, 2015, Nature Reviews Disease Primers.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

22q11.2 deletion syndrome

P. Scambler, J. Vermeesch, K. Sullivan, 2015, Nature Reviews Disease Primers.

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome

E. Zackai, B. Morrow, A. Bassett, 2022, Genes.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

M. Owen, C. Marshall, Zhengdong D. Zhang, 2023, NPJ genomic medicine.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

C. Marshall, D. Heine-Suñer, D. Zheng, 2022, bioRxiv.

Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications

J. Sebat, K. Ruparel, Charles-Olivier Martin, 2023, Research square.

Cognitive de ﬁ cits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

S. Chawner, S. Linden, A. Swillen, 2023 .

The Motor Profile of Primary School-Age Children with a 22q11.2 Deletion Syndrome (22q11.2DS) and an Age- and IQ-Matched Control Group

K. Caeyenberghs, B. Smits-Engelsman, A. Swillen, 2009, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Velo-Cardio-Facial Syndrome: The cognitive spectrum in velo-cardio-facial syndrome

L. Campbell, A. Swillen, 2005 .

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

J. Vermeesch, H. Van Esch, Nicolas Dierckxsens, 2024, bioRxiv.