TY  - CONF
AU  - Simeunović, Ivana
AU  - Drakulić, Danijela
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Kostić, Jovana
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2184
AB  - Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
intellectual disability (ID), schizophrenia, and bipolar disorder, are caused by
disruption of brain development. They affect approximately 4% of the European
population. However, molecular mechanisms underlying NDDs are still unknown.
One of the syndromes with a high risk for NDDs is 22q11.2 Deletion Syndrome
(22q11.2DS) caused by microdeletion 22q11.2. 22q11.2DS is the most common
microdeletion in humans; approximately, 25% of patients with 22q11.2DS develop
schizophrenia compared to 1% in the general population, while an ID is detected in
approximately 45% of patients and ASD in 14-50% of cases. We analyzed genomic
and clinical findings in our cohort of 35 patients with 22q11.2DS. The majority of
patients have 3 Mb deletion and nine patients have inherited 22q11.2 microdeletion
from their parents. Twenty-one different clinical presentations are revealed in the
cohort with developmental delay detected in about 50% of patients. Approximately
80% of patients have heart malformations, palatal clefts/velopharyngeal insufficiency
was detected in about 30% of them, facial dysmorphism in approximately 80% and
hypocalcemia was seen in about 20% of patients. Here we presented a cohort of
patients with 22q11.2DS which represents a good system for modeling NDDs in vitro.
PB  - Belgrade : Serbian Neuroscience Society
C3  - 8th Congress of the Serbian Neuroscience Society
T1  - Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia
EP  - 98
SP  - 98
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2184
ER  - 

@conference{
author = "Simeunović, Ivana and Drakulić, Danijela and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Kostić, Jovana and Stevanović, Milena",
year = "2023",
abstract = "Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
intellectual disability (ID), schizophrenia, and bipolar disorder, are caused by
disruption of brain development. They affect approximately 4% of the European
population. However, molecular mechanisms underlying NDDs are still unknown.
One of the syndromes with a high risk for NDDs is 22q11.2 Deletion Syndrome
(22q11.2DS) caused by microdeletion 22q11.2. 22q11.2DS is the most common
microdeletion in humans; approximately, 25% of patients with 22q11.2DS develop
schizophrenia compared to 1% in the general population, while an ID is detected in
approximately 45% of patients and ASD in 14-50% of cases. We analyzed genomic
and clinical findings in our cohort of 35 patients with 22q11.2DS. The majority of
patients have 3 Mb deletion and nine patients have inherited 22q11.2 microdeletion
from their parents. Twenty-one different clinical presentations are revealed in the
cohort with developmental delay detected in about 50% of patients. Approximately
80% of patients have heart malformations, palatal clefts/velopharyngeal insufficiency
was detected in about 30% of them, facial dysmorphism in approximately 80% and
hypocalcemia was seen in about 20% of patients. Here we presented a cohort of
patients with 22q11.2DS which represents a good system for modeling NDDs in vitro.",
publisher = "Belgrade : Serbian Neuroscience Society",
journal = "8th Congress of the Serbian Neuroscience Society",
title = "Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia",
pages = "98-98",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2184"
}

Simeunović, I., Drakulić, D., Cuturilo, G., Kovačević-Grujičić, N., Kostić, J.,& Stevanović, M.. (2023). Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia. in 8th Congress of the Serbian Neuroscience Society
Belgrade : Serbian Neuroscience Society., 98-98.
https://hdl.handle.net/21.15107/rcub_imagine_2184

Simeunović I, Drakulić D, Cuturilo G, Kovačević-Grujičić N, Kostić J, Stevanović M. Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia. in 8th Congress of the Serbian Neuroscience Society. 2023;:98-98.
https://hdl.handle.net/21.15107/rcub_imagine_2184 .

Simeunović, Ivana, Drakulić, Danijela, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Kostić, Jovana, Stevanović, Milena, "Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from Serbia" in 8th Congress of the Serbian Neuroscience Society (2023):98-98,
https://hdl.handle.net/21.15107/rcub_imagine_2184 .

TY  - CONF
AU  - Drakulić, Danijela
AU  - Cuturilo, Goran
AU  - Jovanović, Ida
AU  - Krstić, Aleksandar
AU  - Milivojević, Milena
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2181
AB  - Background/Objectives: 22q11.2 microdeletion, detected in
patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most
common microdeletion syndrome in humans. 22q11.2DS has high
risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2
microdeletion applying different recruitment criteria, revealed
detection rate ranging from zero to 34.7%. Here we analyzed the
frequency of 22q11.2 microdeletion among children having at
least two out of five major characteristics of 22q11.2DS: congenital
heart malformations (CHM), facial dysmorphism, immunological
problems, palatal clefts and hypocalcemia.
Methods: Children with clinical characteristics of 22q11.2DS
were analyzed. Fluorescence in situ hybridization and multiplex
ligation-dependent probe amplification analysis were applied for
detection of 22q11.2 microdeletion.
Results: 22q11.2 microdeletion was detected in approximately
40% of children. CHM was found in all patients with 22q11.2
microdeletion. Dysmorphic facial features were present in about
45%, immunological problems in 30%, overt cleft palate in about
4% and hypocalcemia in approximately 60% of patients with
22q11.2 microdeletion.
Conclusion: When at least two major features of 22q11.2DS are
taking into consideration higher detection rate is obtained compared
to one-feature criterion. These criteria could be considered
by centers in low-income countries.
PB  - Springer Nature
C3  - European Journal of Human Genetics
T1  - Detection rate of 22q11.2 microdeletion using strict diagnostic criteria
EP  - 240
IS  - Suppl 1
SP  - 240
VL  - 31
DO  - 10.1038/s41431-023-01339-3
ER  - 

@conference{
author = "Drakulić, Danijela and Cuturilo, Goran and Jovanović, Ida and Krstić, Aleksandar and Milivojević, Milena and Stevanović, Milena",
year = "2023",
abstract = "Background/Objectives: 22q11.2 microdeletion, detected in
patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most
common microdeletion syndrome in humans. 22q11.2DS has high
risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2
microdeletion applying different recruitment criteria, revealed
detection rate ranging from zero to 34.7%. Here we analyzed the
frequency of 22q11.2 microdeletion among children having at
least two out of five major characteristics of 22q11.2DS: congenital
heart malformations (CHM), facial dysmorphism, immunological
problems, palatal clefts and hypocalcemia.
Methods: Children with clinical characteristics of 22q11.2DS
were analyzed. Fluorescence in situ hybridization and multiplex
ligation-dependent probe amplification analysis were applied for
detection of 22q11.2 microdeletion.
Results: 22q11.2 microdeletion was detected in approximately
40% of children. CHM was found in all patients with 22q11.2
microdeletion. Dysmorphic facial features were present in about
45%, immunological problems in 30%, overt cleft palate in about
4% and hypocalcemia in approximately 60% of patients with
22q11.2 microdeletion.
Conclusion: When at least two major features of 22q11.2DS are
taking into consideration higher detection rate is obtained compared
to one-feature criterion. These criteria could be considered
by centers in low-income countries.",
publisher = "Springer Nature",
journal = "European Journal of Human Genetics",
title = "Detection rate of 22q11.2 microdeletion using strict diagnostic criteria",
pages = "240-240",
number = "Suppl 1",
volume = "31",
doi = "10.1038/s41431-023-01339-3"
}

Drakulić, D., Cuturilo, G., Jovanović, I., Krstić, A., Milivojević, M.,& Stevanović, M.. (2023). Detection rate of 22q11.2 microdeletion using strict diagnostic criteria. in European Journal of Human Genetics
Springer Nature., 31(Suppl 1), 240-240.
https://doi.org/10.1038/s41431-023-01339-3

Drakulić D, Cuturilo G, Jovanović I, Krstić A, Milivojević M, Stevanović M. Detection rate of 22q11.2 microdeletion using strict diagnostic criteria. in European Journal of Human Genetics. 2023;31(Suppl 1):240-240.
doi:10.1038/s41431-023-01339-3 .

Drakulić, Danijela, Cuturilo, Goran, Jovanović, Ida, Krstić, Aleksandar, Milivojević, Milena, Stevanović, Milena, "Detection rate of 22q11.2 microdeletion using strict diagnostic criteria" in European Journal of Human Genetics, 31, no. Suppl 1 (2023):240-240,
https://doi.org/10.1038/s41431-023-01339-3 . .

TY  - CONF
AU  - Mijović, Marija
AU  - Cuturilo, Goran
AU  - Ruml Stojanović, Jelena
AU  - Miletić, Aleksandra
AU  - Bosankić, Brankica
AU  - Petrović, Hristina
AU  - Vasić, Bojana
AU  - Vukasinović, Nađa
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2055
AB  - ACMG recognizes five different categories of sequence variants identified by next
generation sequencing (pathogenic, likely pathogenic, variants of unknown significance,
likely benign and benign). Sometimes, potentially relevant gene variants could be
categorized as variants of unknown significance according to the level of available
evidences. Because of that, detailed assessment of the phenotype-genotype correlation
by the clinical geneticist in each individual case is crucially important. The interpretation
and classification of a variant may change over time. Variant reinterpretation is defined as
the practice of reevaluating all the evidence available about the pathogenicity of a genetic
variant and taking into account any new evidence that is made available since the previous
interpretation.
For the last seven years, we had 168 patients with clinically suspected locus heterogeneous
skeletal dysplasia. Next generation sequencing (NGS) using clinical exome sequencing
or whole exome sequencing was performed for all. All patients underwent detailed
phenotype-genotype correlation investigation.
Molecular diagnosis by determining the pathogenic or likely pathogenic causative gene
variant(s) was established for 102 out of 168 patients (60.71%). Additionally, in 10 patients
(5.95%) variant of unknown significance (VUS) with good phenotype-genotype correlation
was identified. These VUS variants could be potentially, and possibly are, causal, although
there are no reliable evidences of their pathogenicity at the moment. In one of the positive
patients in our study, the variant was initially classified as VUS, but with new evidence it
was reclassified as likely pathogenic.
In the present study, a potentially relevant variant of unknown significance was detected
in 5.95% of patients, which is a non-negligible proportion. For all these patients, we have
organized clinical follow-up with periodic reinterpretation and reclassification of the
detected variants.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia
EP  - 110
SP  - 110
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2055
ER  - 

@conference{
author = "Mijović, Marija and Cuturilo, Goran and Ruml Stojanović, Jelena and Miletić, Aleksandra and Bosankić, Brankica and Petrović, Hristina and Vasić, Bojana and Vukasinović, Nađa",
year = "2023",
abstract = "ACMG recognizes five different categories of sequence variants identified by next
generation sequencing (pathogenic, likely pathogenic, variants of unknown significance,
likely benign and benign). Sometimes, potentially relevant gene variants could be
categorized as variants of unknown significance according to the level of available
evidences. Because of that, detailed assessment of the phenotype-genotype correlation
by the clinical geneticist in each individual case is crucially important. The interpretation
and classification of a variant may change over time. Variant reinterpretation is defined as
the practice of reevaluating all the evidence available about the pathogenicity of a genetic
variant and taking into account any new evidence that is made available since the previous
interpretation.
For the last seven years, we had 168 patients with clinically suspected locus heterogeneous
skeletal dysplasia. Next generation sequencing (NGS) using clinical exome sequencing
or whole exome sequencing was performed for all. All patients underwent detailed
phenotype-genotype correlation investigation.
Molecular diagnosis by determining the pathogenic or likely pathogenic causative gene
variant(s) was established for 102 out of 168 patients (60.71%). Additionally, in 10 patients
(5.95%) variant of unknown significance (VUS) with good phenotype-genotype correlation
was identified. These VUS variants could be potentially, and possibly are, causal, although
there are no reliable evidences of their pathogenicity at the moment. In one of the positive
patients in our study, the variant was initially classified as VUS, but with new evidence it
was reclassified as likely pathogenic.
In the present study, a potentially relevant variant of unknown significance was detected
in 5.95% of patients, which is a non-negligible proportion. For all these patients, we have
organized clinical follow-up with periodic reinterpretation and reclassification of the
detected variants.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia",
pages = "110-110",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2055"
}

Mijović, M., Cuturilo, G., Ruml Stojanović, J., Miletić, A., Bosankić, B., Petrović, H., Vasić, B.,& Vukasinović, N.. (2023). Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 110-110.
https://hdl.handle.net/21.15107/rcub_imagine_2055

Mijović M, Cuturilo G, Ruml Stojanović J, Miletić A, Bosankić B, Petrović H, Vasić B, Vukasinović N. Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia. in 4th Belgrade Bioinformatics Conference. 2023;4:110-110.
https://hdl.handle.net/21.15107/rcub_imagine_2055 .

Mijović, Marija, Cuturilo, Goran, Ruml Stojanović, Jelena, Miletić, Aleksandra, Bosankić, Brankica, Petrović, Hristina, Vasić, Bojana, Vukasinović, Nađa, "Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia" in 4th Belgrade Bioinformatics Conference, 4 (2023):110-110,
https://hdl.handle.net/21.15107/rcub_imagine_2055 .

TY  - CONF
AU  - Drakulić, Danijela
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Kušić-Tišma, Jelena
AU  - Morić, Ivana
AU  - Zukić, Branka
AU  - Stevanović, Milena
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2036
AB  - 22q11.2 deletion syndrome (22q11.2DS is caused by 22q11.2 microdeletion, one of
the strongest known risk factors for development of neurodevelopmental disorders.
About 70% patients with 22q11.2DS have speech and language impairments. In the
literature, there is no data about articulatory characteristics of phonemes of children
with 22q11.2DS, monolingual native speakers of South Slavic languages. Here we, by
applying Global Articulation Test, analyzed articulatory characteristics of phonemes of
children with 22q11.2DS, monolingual native speakers of the Serbian language (group
E1), children with a phenotype resembling 22q11.2DS but without the microdeletion
(group E2), children with non-syndromic congenital heart malformations (since children
with these malformations may exhibit a speech and language impairments) (group
E3) and their peers with typical speech-sound development (group C). Results of PCA
indicated that the groups can be distinguished based on the pronunciation of phonemes,
and that the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩”
contributes the most to the variability between the groups. Results of AHP revealed that
the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩” was
rated the worst in the group E1. In conclusion, obtained results indicate that the presence
of 22q11.2 microdeletion influences articulation skills of carriers.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome
EP  - 91
SP  - 91
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2036
ER  - 

@conference{
author = "Drakulić, Danijela and Rakonjac, Marijana and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Kušić-Tišma, Jelena and Morić, Ivana and Zukić, Branka and Stevanović, Milena",
year = "2023",
abstract = "22q11.2 deletion syndrome (22q11.2DS is caused by 22q11.2 microdeletion, one of
the strongest known risk factors for development of neurodevelopmental disorders.
About 70% patients with 22q11.2DS have speech and language impairments. In the
literature, there is no data about articulatory characteristics of phonemes of children
with 22q11.2DS, monolingual native speakers of South Slavic languages. Here we, by
applying Global Articulation Test, analyzed articulatory characteristics of phonemes of
children with 22q11.2DS, monolingual native speakers of the Serbian language (group
E1), children with a phenotype resembling 22q11.2DS but without the microdeletion
(group E2), children with non-syndromic congenital heart malformations (since children
with these malformations may exhibit a speech and language impairments) (group
E3) and their peers with typical speech-sound development (group C). Results of PCA
indicated that the groups can be distinguished based on the pronunciation of phonemes,
and that the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩”
contributes the most to the variability between the groups. Results of AHP revealed that
the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩” was
rated the worst in the group E1. In conclusion, obtained results indicate that the presence
of 22q11.2 microdeletion influences articulation skills of carriers.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome",
pages = "91-91",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2036"
}

Drakulić, D., Rakonjac, M., Cuturilo, G., Kovačević-Grujičić, N., Kušić-Tišma, J., Morić, I., Zukić, B.,& Stevanović, M.. (2023). Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 91-91.
https://hdl.handle.net/21.15107/rcub_imagine_2036

Drakulić D, Rakonjac M, Cuturilo G, Kovačević-Grujičić N, Kušić-Tišma J, Morić I, Zukić B, Stevanović M. Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome. in 4th Belgrade Bioinformatics Conference. 2023;4:91-91.
https://hdl.handle.net/21.15107/rcub_imagine_2036 .

Drakulić, Danijela, Rakonjac, Marijana, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Kušić-Tišma, Jelena, Morić, Ivana, Zukić, Branka, Stevanović, Milena, "Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome" in 4th Belgrade Bioinformatics Conference, 4 (2023):91-91,
https://hdl.handle.net/21.15107/rcub_imagine_2036 .