Research Topics
Genomes and Genes
| Rosanna WeksbergSummaryAffiliation: The Hospital for Sick Children Country: Canada Publications
| Collaborators
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Detail Information
Publications
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya
Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada
BMC Med Genomics 6:1. 2013..Identification of epigenetic alterations occurring in these disorders could shed light on molecular pathways relevant to neurodevelopment...
Imprinted genes and human diseaseRosanna Weksberg
Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet C Semin Med Genet 154:317-20. 2010..Such investigations will benefit children and families as we become better able to define recurrence risk, predict phenotype, and tailor medical management...
Beckwith-Wiedemann syndromeRosanna Weksberg
University of Toronto, Canada
Am J Med Genet C Semin Med Genet 137:12-23. 2005..In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling...- A method for accurate detection of genomic microdeletions using real-time quantitative PCRRosanna Weksberg
Program in Genetics and Genomic Biology, The Research Institute, The Hospital for Sick Children, Toronto, Canada
BMC Genomics 6:180. 2005.... - Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal developmentRosanna Weksberg
Institute of Medical Sciences, Department of Medical Genetics and Microbiology, University of Toronto, Ontario, Canada
Hum Mol Genet 12:R61-8. 2003..Finally, we discuss how knowledge of epigenetic mechanisms associated with the early stages of embryogenesis suggest caution in the current debate surrounding assisted reproductive and cloning technologies... - Beckwith-Wiedemann syndromeRosanna Weksberg
Department of Genetics and Genome Biology, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario M5G 1X8, Canada
Eur J Hum Genet 18:8-14. 2010..Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction... - Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologiesCheryl Shuman
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 140:1497-503. 2006..Of note, two of the eight patients with UPD and IH were conceived using assisted reproductive technologies (ART), thus raising the question whether ART might impact the rate of somatic recombination during embryonic development... - WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonateJose C Ferreira
Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada
Epigenetics 6:440-9. 2011..Note: All of the array data in the manuscript can be accessed from the Gene Expression Omnibus (GEO) NCBI database under GEO accession number GSE22326... - A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesSanaa Choufani
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Genome Res 21:465-76. 2011.... - Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15Adam C Smith
Institute of Medical Science, University of Toronto, Toronto, Canada
Am J Med Genet A 143:3010-5. 2007..These two patients support the hypothesis that high levels of UPD define high expressivity in BWS... - Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndromeShin ichi Horike
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 149:2415-23. 2009..This patient series suggests that epimutations on chromosome 11p15 can be most efficiently detected in RSS patients by screening for DNA methylation defects at the H19 promoter or the distal region of ICR... - Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplificationAndrea C Stachon
Institute of Medical Science, University of Toronto, Toronto, Canada
Am J Med Genet A 143:2924-30. 2007..Additional advantages of MLPA testing in our study included determination of deletion length and detection of 22q11.2 duplications. (c) 2007 Wiley-Liss, Inc... - Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?Brian Chung
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Ontario, Canada
Am J Med Genet A 158:2373-81. 2012..We propose that this is a previously unrecognized overgrowth syndrome associated with increased cellular proliferation and defective collagen I deposition due to an imbalance between MMP and TIMP in fibroblasts... - Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndromeRosanna Weksberg
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, 555 University Ave, M5G 1X8, Toronto, ON, Canada
Hum Genet 120:837-45. 2007..Further studies are needed to elucidate the molecular basis of schizophrenia and clinical heterogeneity in 22q11DS... - Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentaeLin Guo
Institute of Medical Sciences, University of Toronto, Toronto, Canada
Dev Biol 320:79-91. 2008..Of particular interest, we demonstrated also a decrease in IGF2 mRNA levels in all SGA placentae and showed that the decrease is, in most cases, independent of H19 regulation... - Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndromeAnne S Bassett
Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Biol Psychiatry 61:1135-40. 2007..COMT is within the region commonly deleted in 22q11 deletion syndrome (22q11DS), a syndrome with high prevalence of schizophrenia. We examined the role of COMT in schizophrenia-related expression in 22q11DS... - Human chromosome 7: DNA sequence and biologyStephen W Scherer
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
Science 300:767-72. 2003..This approach enabled the discovery of candidate genes for developmental diseases including autism... - Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11Linda Beatty
Department of Medical Genetics and Microbiology, University of Toronto, Toronto, ON, Canada
Genomics 87:46-56. 2006..Finally, we find that there is a switch in methylation patterns outside the CpG island from maternal methylation within the island to predominantly paternal methylation at sites flanking the CpG island... - Beckwith-Wiedemann syndromeSanaa Choufani
Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet C Semin Med Genet 154:343-54. 2010..Recent reports of BWS cases have identified mutations outside the chromosome 11p15.5 critical region, thereby broadening the challenges in the diagnosis and genetic counseling of individuals and families with BWS... - Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarrayYi an Chen
Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada
Genomics 97:214-22. 2011..Overall, our findings address several technical issues associated with the Illumina 27k microarray that, once considered, will enhance the analysis and interpretation of data generated from this platform... - Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platformsRageen Rajendram
Program in Biological Sciences, University of Toronto, Ontario, Canada
Epigenetics 6:410-5. 2011..The high scalability, low cost and simpler analysis of BC-arrays, together with the recent extended coverage may make them a more versatile methylation analysis tool... - Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung
Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Eur J Hum Genet 20:398-403. 2012..This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved... - Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
Am J Hum Genet 90:856-63. 2012..The ID combined with a unique profile of comorbid features presented here makes this an important genetic discovery, and the involvement of NSUN2 highlights the role of RNA methyltransferase in human neurocognitive development... - The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5Minjie Du
Department of Molecular and Medical Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada
Genomics 84:288-300. 2004..Mutation of the CCAAT boxes produced impairment of promoter activity. Transfection and gel mobility shift experiments suggest that binding of the factor NF-Y to the CCAAT boxes is important for promoter activity... - Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndromeCheryl S Cytrynbaum
Division of Clinical and Metabolic Genetics, The Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
Curr Opin Pediatr 17:740-6. 2005..New developments in our understanding of the molecular basis and phenotypic expression of overgrowth syndromes provide additional tools in this often challenging process... - CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancerJocelyne M Lew
Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 127:268-76. 2004..However, the total amount of spliced message was not reduced by the mutation in spite of the reduced efficiency of splicing. We discuss the possible role of the splicing defect in the pathogenesis of WBS in this pedigree... - Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivationAaron Y L Cheung
Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mol Genet 20:2103-15. 2011..Analysis of isogenic control and mutant hiPS cell-derived neurons represents a promising source for understanding the pathogenesis of RTT and the role of MECP2 in human neurons... - The schizophrenia phenotype in 22q11 deletion syndromeAnne S Bassett
Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, 1001 Queen Street West, Toronto, Ontario, M6J 1H4 Canada
Am J Psychiatry 160:1580-6. 2003..Individuals with 22qDS are at genetically high risk for schizophrenia... - Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna Weksberg
Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mol Genet 11:1317-25. 2002..These data underscore the importance of continued surveillance of children born following assisted reproductive technologies that impact the preimplantation embryo... - Parents' perspectives on participating in genetic research in autismMagan Trottier
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
J Autism Dev Disord 43:556-68. 2013..The results of this study highlight complex factors involved in families' decisions to participate in autism genetic research and provide points to consider for this population of research participants... - Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issuesMichal Inbar-Feigenberg
The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 161:13-20. 2013..Identification of individuals with mosaicism for genome-wide paternal UPD is an important goal as it confers a low recurrence risk for the family and identifies individuals who require surveillance due to increased tumor risk... - Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5Minjie Du
Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A8
Hum Mol Genet 12:1927-39. 2003..We discuss the differences in the regulation of imprinting controlled by the two imprinting control regions in chromosome 11p... - Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum DisorderBrian H Y Chung
Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
Eur J Med Genet 54:e516-20. 2011..We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders... - Clinical features of 78 adults with 22q11 Deletion SyndromeAnne S Bassett
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Am J Med Genet A 138:307-13. 2005..Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms... - Male sex bias in placental dysfunctionAlly Murji
Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 158:779-83. 2012..In a subgroup analysis of families without cHTN, a significant male bias was found to extend to sibs of index cases. This suggests a potential genetic mechanism predisposing the male fetus to abnormal placental development... - SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:879-87. 2012..The data are also informative for clinical-genetics interpretations of both inherited and sporadic forms of ASD involving SHANK1... - Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomyMichael Goldman
Divisions of Nephrology and Clinical and Metabolic Genetics, Program in Developmental Biology, Research Institute, and Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada
J Am Soc Nephrol 13:2077-84. 2002..5 in BWS was associated with a higher incidence of renal abnormalities, mutations at CDKN1C and KvDMR1 imprinting defects were not, suggesting that imprinted genes on 11p15.5 other than CDKN1C are critical for renal development... - Hypercalciuria in Beckwith-Wiedemann syndromeMichael Goldman
Division of Nephrology and the Program in Developmental Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada
J Pediatr 142:206-8. 2003..Serum calcium was normal in all patients with HC. Because we found that an increased prevalence in the occurrence of HC and its complications in a group of children with BWS, any child with BWS should be evaluated for HC... - 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresBrian H Y Chung
Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 155:424-9. 2011..Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion... - Cell specific patterns of methylation in the human placentaAriadna Grigoriu
Department of Obstetrics and Gynecology, Maternal Fetal Medicine Division, Hospital for Sick Children, Toronto, ON, Canada
Epigenetics 6:368-79. 2011..These data are proof of principle for cell-type specific epigenetic regulation in placenta and demonstrate that the methylation profile of placenta is mainly driven by cytotrophoblasts... - Growth regulation, imprinted genes, and chromosome 11p15.5Adam C Smith
Institute of Medical Sciences, University of Toronto, Canada
Pediatr Res 61:43R-47R. 2007..5. These include isolated hemihyperplasia, Russell-Silver syndrome, and transient neonatal diabetes mellitus. These molecular alterations and their phenotypic effects on growth are discussed... - Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?Prakesh S Shah
Mount Sinai Hospital, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 140:1312-5. 2006..We propose that this is a previously unrecognized disorder. The potential role of ICSI/IVF in the pathogenesis of this condition is unknown. No imprinting defect at chromosome 11p15 was identified... - Structural variation of chromosomes in autism spectrum disorderChristian R Marshall
The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
Am J Hum Genet 82:477-88. 2008..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup... - Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogramClara L Ortiz-Neira
Alberta Children s Hospital, Toronto, Ontario, Canada
Clinics (Sao Paulo) 64:41-4. 2009..In such subjects, kidney size is typically larger than that of age-matched normal controls... - The cycle of genome-directed medicineJanet A Buchanan
The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
Genome Med 1:16. 2009..Medical infrastructure needs to adapt to the dramatic pace of technology development in the wake of the Human Genome Project, in order for genome data to be delivered as information and applied as knowledge to benefit health... - Autism spectrum disorders and epigeneticsDaria Grafodatskaya
Hospital for Sick Children, Toronto, Ontario, Canada
J Am Acad Child Adolesc Psychiatry 49:794-809. 2010..The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD... - Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32Kazuhiko Nakabayashi
Department of Genetics, The Hospital for Sick Children, and Department of Molecular and Medical Genetics, University of Toronto, Toronto, ON, Canada
Hum Mol Genet 11:1743-56. 2002..MESTIT1 (also known as PEG1-AS) is now the third independent transcript (with MEST and COPG2IT1) identified at human chromosome 7q32 demonstrating paternal chromosome-specific expression... - Functional impact of global rare copy number variation in autism spectrum disordersDalila Pinto
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
Nature 466:368-72. 2010..Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways... - 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illnessNicole Martin
Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada
J Genet Couns 21:825-34. 2012..These results suggest that genetic counselors could benefit from further education regarding psychiatric illness in 22q11.2DS and best strategies for discussing this important subject with parents and patients... - Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertilityRosanna Weksberg
Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada
Fertil Steril 88:27-31. 2007.... - Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Am J Hum Genet 89:176-82. 2011..MAN1B1 is one of the few NS-ARID genes with an elevated mutation frequency in patients with NS-ARID from different populations... - Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathyAleksander Hinek
Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Canada
Am J Med Genet A 133:1-12. 2005..We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of Costello syndrome... - Inhibition of glycogen synthase kinase-3 enhances the differentiation and reduces the proliferation of adult human olfactory epithelium neural precursorsAziza P Manceur
Institute of Biomaterials and Biomedical Engineering, University of Toronto, Toronto, Ontario, Canada
Exp Cell Res 317:2086-98. 2011.... - Molecular genetic studies of human chromosome 7 in Russell-Silver syndromeKazuhiko Nakabayashi
Department of Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
Genomics 79:186-96. 2002..We also identified other transcription units from this immediate region, but all seem to be biallelically expressed when using a somatic cell hybrid assay... - C1-2 vertebral anomalies in 22q11.2 microdeletion syndromeOsnat Konen
Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada
Pediatr Radiol 38:766-71. 2008..Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability... - Detecting rearrangements in children using subtelomeric FISH and SKYBlaise Clarkson
Faculty of Medicine, University of Toronto, Toronto, Canada
Am J Med Genet 107:267-74. 2002..5-13.7) and 2% (95% CI 0.05-10.7), respectively. This study supports the view that G-banding does not detect all clinically significant chromosomal abnormalities and that subtelomeric FISH and SKY can detect some of these abnormalities... - Schizophrenia and genetics: new insightsAnne S Bassett
Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
Curr Psychiatry Rep 4:307-14. 2002..The progress to date suggests that understanding of a neurodevelopmental pathway from genetic susceptibility to schizophrenia will soon be fundamentally altered by molecular genetic advances in this complex disease... - Nephron sparing surgery for unilateral wilms tumor in children with predisposing syndromes: single center experience over 10 yearsRodrigo L P Romão
Division of Urology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
J Urol 188:1493-9. 2012..We describe our experience with nephron sparing surgery for Wilms tumor in this population at risk for metachronous lesions... - Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutationSteven Gallinger
Familial Gastrointestinal Cancer Registry and Centre for Cancer Genetics and Department of Surgery, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, ON, Canada
Gastroenterology 126:576-85. 2004.... - Predictors and mediators of psychological adjustment in mothers of children newly diagnosed with cancerMaru Barrera
Hospital for Sick Children, Toronto, Ontario, Canada
Psychooncology 13:630-41. 2004..These findings suggest that MCC have more PA difficulties that are uniquely related to their child's behavior than MCA. Concurrent stress and strains seems to be an important mediator of PA for both groups of mothers... - Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS)Grace Yoon
Alberta Children's Hospital, Calgary, Alberta, Canada
Med Pediatr Oncol 38:193-9. 2002 - Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for careKimberly J Greer
Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, USA
Am J Med Genet A 146:1707-12. 2008.... - Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Nat Genet 30:215-20. 2002..These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease...