A. Bertoli-Avella

发表

A comprehensive global genotype–phenotype database for rare diseases

D. Trujillano, G. Oprea, Yvonne Schmitz, 2016, Molecular genetics & genomic medicine.

Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling

R. Kanaar, A. Bertoli-Avella, J. Essers, 2016, EBioMedicine.

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.

K. Sleegers, C. V. van Duijn, P. Heutink, 2007, American journal of human genetics.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

K. Kandaswamy, W. Reardon, P. Bauer, 2020, European journal of human genetics : EJHG.

Angiotensin converting enzyme gene polymorphism and cardiovascular morbidity and mortality: the Rotterdam Study

A Hofman, A. Hofman, C. V. van Duijn, 2005, Journal of Medical Genetics.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

H. Venselaar, A. Bertoli-Avella, E. de Graaff, 2011, American journal of human genetics.

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

P. Heutink, B. Oostra, F. T. ten Cate, 2007, Human Genetics.

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

G. Pals, S. Bierma-Zeinstra, J. Timmermans, 2011, Journal of Medical Genetics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

C. Catsman-Berrevoets, J. Dudink, M. Lequin, 2009, American journal of human genetics.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

A mutation in the acyl‐coenzyme A binding domain‐containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

S. Perrotta, B. Oostra, A. Bertoli-Avella, 2010, Journal of thrombosis and haemostasis : JTH.

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt–Jakob disease

A. Hofman, J. Houwing-Duistermaat, C. Duijn, 2004, European Journal of Human Genetics.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Journal of the American Society of Nephrology : JASN.

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

W. Reardon, P. Bauer, A. Bertoli-Avella, 2020, Clinical genetics.

Novel clinical and genetic insight into CXorf56-associated intellectual disability

K. Kandaswamy, W. Reardon, P. Bauer, 2019, European Journal of Human Genetics.

ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

P. Bauer, A. Bertoli-Avella, C. Beetz, 2020, Clinical genetics.

Identification of RNA binding motif proteins essential for cardiovascular development

S. Fisher, Seneca L. Bessling, A. McCallion, 2011, BMC Developmental Biology.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

H. Kayserili, Kenneth Lay, A. Bertoli-Avella, 2022, Nature Genetics.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

S. Mundlos, M. Spielmann, T. Strom, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

G. Pals, F. Moll, I. Nijman, 2015, American journal of medical genetics. Part A.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

T. Marshall, F. Mancia, A. Bertoli-Avella, 2021, The New England journal of medicine.

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

P. Bauer, S. Arold, A. Bertoli-Avella, 2020, Acta Neuropathologica.

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

B. Oostra, G. Visser, A. Bertoli-Avella, 2009, neurogenetics.

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

B. Oostra, M. Lequin, A. Bertoli-Avella, 2009, European heart journal.

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

B. Venkatesh, M. Coleman, A. Bertoli-Avella, 2022, medRxiv.

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

A. Masood, A. Bertoli-Avella, R. Halwani, 2022, Frontiers in Genetics.

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

A. Bertoli-Avella, Y. Jamshidi, Marie-Christine Nouguès, 2022, Clinical genetics.

Linkage disequilibrium in young genetically isolated Dutch population

L. Cardon, C. Duijn, P. Heutink, 2004, European Journal of Human Genetics.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

A. Bertoli-Avella, L. Selim, H. Tomoum, 2022, European Journal of Human Genetics.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

P. Bauer, A. Bertoli-Avella, E. Faqeih, 2021, Frontiers in Pediatrics.

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

A. Mégarbané, A. Bertoli-Avella, Ruslan Al-Ali, 2021, Clinical genetics.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

J. Lupski, Tadahiro Mitani, D. Calame, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

ROBO2 gene variants are associated with familial vesicoureteral reflux.

S. Perrotta, B. Oostra, A. Bertoli-Avella, 2008, Journal of the American Society of Nephrology : JASN.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

P. J. van der Spek, G. Mancini, A. Bertoli-Avella, 2022, Human Genetics.

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

J. Casanova, D. Weil, N. Boddaert, 2021, Proceedings of the National Academy of Sciences.

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Rolf Schröder, Ahmed Al-Rumayyan, Omid Paknia, 2016, European Journal of Human Genetics.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

J. Rosenfeld, D. Trabzuni, S. Arold, 2021, Brain : a journal of neurology.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

K. Kandaswamy, P. Bauer, F. Alkuraya, 2021, Genetics in Medicine.

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

P. Bauer, A. Bertoli-Avella, B. Pode-Shakked, 2019, Front. Genet..

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

M. Rieder, J. Shendure, D. Nickerson, 2011, Circulation research.

Chasing genes in Alzheimer’s and Parkinson’s disease

P. Heutink, B. Oostra, A. Bertoli-Avella, 2004, Human Genetics.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

S. Perrotta, B. Oostra, A. Bertoli-Avella, 2008, Pediatric Nephrology.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Carel Meijers, Dick Tibboel, Jan Osinga, 2005, American journal of human genetics.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Mutations in a TGF- b Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

J. Timmermans, B. Beverloo, L. Pardo, 2015 .

Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction

B. D. de Vries, J. Roos‐Hesselink, A. Bertoli-Avella, 2009, American journal of medical genetics. Part A.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

P. Bauer, N. Ameziane, A. Bertoli-Avella, 2020, npj Genomic Medicine.

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Maximilian E. R. Weiss, K. Kandaswamy, P. Bauer, 2018, Genetics in Medicine.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

G. Vriend, G. Pals, S. Bierma-Zeinstra, 2011, Nature Genetics.

Premature ovarian failure and gene polymorphisms

R. Oldenburg, A. Bertoli-Avella, M. V. van Dooren, 2009, Current opinion in obstetrics & gynecology.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

M. Fornerod, L. D. de Vries, A. Afenjar, 2019, American journal of human genetics.

Suggestive linkage to chromosome 19 in a large Cuban family with late‐onset Parkinson's disease

C. V. van Duijn, P. Heutink, A. Bertoli-Avella, 2003, Movement disorders : official journal of the Movement Disorder Society.

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor

M. Canesi, C. Mariani, G. Pezzoli, 2005, Journal of Medical Genetics.

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

A. Bertoli-Avella, L. Schuler‐Faccini, Fabiano de Oliveira Poswar, 2020, Molecular Syndromology.

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

A. Bertoli-Avella, L. Bobadilla-Morales, J. Corona-Rivera, 2020, European journal of medical genetics.

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

S. Perrotta, B. Oostra, F. Della Ragione, 2011, Orphanet journal of rare diseases.

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

M. Daly, O. Pietiläinen, A. Palotie, 2022, European journal of human genetics : EJHG.

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Clinical genetics.

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

A. Bertoli-Avella, A. L. Taylor Tavares, J. P. Vieira, 2021, Clinical genetics.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children

K. Kandaswamy, A. Bertoli-Avella, A. Rolfs, 2018, Clinical genetics.

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

B. Oostra, A. Verkerk, A. Bertoli-Avella, 2010, European Journal of Human Genetics.

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

J. Houwing-Duistermaat, P. Heutink, B. Oostra, 2006, Human Genetics.

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation

A. Bertoli-Avella, C. Beetz, B. Popescu, 2021, Neurocase.

Novel parkin mutations detected in patients with early‐onset Parkinson's disease

R. Marconi, C. V. van Duijn, P. Heutink, 2005, Movement disorders : official journal of the Movement Disorder Society.

ACE gene is associated with Alzheimer's disease and atrophy of hippocampus and amygdala

A. Hofman, C. Duijn, K. Sleegers, 2005, Neurobiology of Aging.

A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3

P. Heutink, B. Oostra, R. Hofstra, 2005, Journal of Medical Genetics.

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions

A. Bertoli-Avella, A. Rolfs, C. Beetz, 2023, Movement disorders : official journal of the Movement Disorder Society.

A study of gene–environment interaction on the gene for angiotensin converting enzyme: a combined functional and population based approach

A. Hofman, J. Witteman, C. V. van Duijn, 2004, Journal of Medical Genetics.

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

C. Farra, T. Balla, R. Maroofian, 2022, Annals of clinical and translational neurology.

Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function

A. Hofman, C. Duijn, A. Isaacs, 2007, Neuroscience Letters.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

R. Hegde, Myrthe van den Born, A. Bertoli-Avella, 2019, Circulation. Genomic and precision medicine.

Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2013, The Annals of thoracic surgery.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

Chapter 2 . 3 Mutations in a TGFß ligand , TGFB 3 , cause syndromic aortic aneurysms and dissections Mutations in TGFB 3 cause syndromic aortic aneurysms and dissections

M. Goumans, K. Devriendt, J. Timmermans, 2019 .

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

J. Volkmann, K. Kandaswamy, W. Mandemakers, 2020, Annals of neurology.

Systematic review of frequent users of emergency departments in non-US hospitals: state of the art

Peter Patka, Juanita Haagsma, Suzanne Polinder, 2015, European journal of emergency medicine : official journal of the European Society for Emergency Medicine.

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

H. Van Esch, G. Mancini, T. Roscioli, 2023, Human Genetics.

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.

B. Oostra, R. Oldenburg, A. Bertoli-Avella, 2008, Human reproduction.

Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

K. Kandaswamy, P. Bauer, A. Bertoli-Avella, 2018, Clinical genetics.

Modulation of abdominal aortic aneurysm vascular smooth muscle cell function by pharmacological inhibition of the native Orai 1 Ca 2 channel

Judith, M. Goumans, H. Dietz, 2014 .

Immune dysregulation caused by homozygous mutations in CBLB

R. Geha, J. Chou, N. Ameziane, 2022, The Journal of clinical investigation.

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

R. Sinke, R. Hofstra, J. Saffitz, 2016, Journal of the American College of Cardiology.

Frequent users of the emergency department services in the largest academic hospital in the Netherlands: a 5-year report

J. Haagsma, S. Polinder, A. Bertoli-Avella, 2017, European journal of emergency medicine : official journal of the European Society for Emergency Medicine.

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

S. Arold, R. Maroofian, H. Houlden, 2021, Brain : a journal of neurology.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

P. Bauer, F. Al-Mulla, A. Bertoli-Avella, 2018, European Journal of Human Genetics.

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

K. Kandaswamy, P. Bauer, A. Bertoli-Avella, 2019, Clinical Genetics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome

A. Bertoli-Avella, L. Reynard, I. M. van de Laar, 2014, Osteoarthritis and cartilage.

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

N. Ameziane, H. Venselaar, A. Bertoli-Avella, 2021, Journal of Medical Genetics.

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

K. Kandaswamy, L. Pardo, A. Bertoli-Avella, 2023, European journal of human genetics : EJHG.

Pathogenic REST variant causing Jones syndrome and a review of the literature

A. Bertoli-Avella, E. Rahikkala, Sanna Häkli, 2022, European Journal of Human Genetics.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

M. Maurice, Björn Fischer-Zirnsak, A. Bertoli-Avella, 2023, American journal of human genetics.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.

A. Bertoli-Avella, Ruxandra Aanicai, Anna H Hakonen, 2023, Clinical genetics.

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

A. Hoischen, R. Pfundt, C. Gilissen, 2023, JCI insight.

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

S. Ferdinandusse, A. Bertoli-Avella, L. Bastaki, 2023, Molecular genetics & genomic medicine.

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

A. Bertoli-Avella, Peter Bauer, Melisa Naranjo Vanegas, 2024, European journal of human genetics : EJHG.

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

R. Pfundt, A. Bertoli-Avella, A. Rolfs, 2015, Journal of Human Genetics.

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

H. Kayserili, G. Bademci, A. Bertoli-Avella, 2024, Nature communications.

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.

A. Bertoli-Avella, C. Beetz, P. Willems, 2022, European journal of medical genetics.