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29 results on '"Sukarova-Angelovska, Elena"'

1. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

Author

Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D., Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, and Brusco, Alfredo

Published
2023
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2. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

Author

Trajkova, Slavica, Kerkhof, Jennifer, Rossi Sebastiano, Matteo, Pavinato, Lisa, Ferrero, Enza, Giovenino, Chiara, Carli, Diana, Di Gregorio, Eleonora, Marinoni, Roberta, Mandrile, Giorgia, Palermo, Flavia, Carestiato, Silvia, Cardaropoli, Simona, Pullano, Verdiana, Rinninella, Antonina, Giorgio, Elisa, Pippucci, Tommaso, Dimartino, Paola, Rzasa, Jessica, Rooney, Kathleen, McConkey, Haley, Petlichkovski, Aleksandar, Pasini, Barbara, Sukarova-Angelovska, Elena, Campbell, Christopher M., Metcalfe, Kay, Jenkinson, Sarah, Banka, Siddharth, Mussa, Alessandro, Ferrero, Giovanni Battista, Sadikovic, Bekim, and Brusco, Alfredo

Published
2024
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4. Missense variant contribution to USP9X-female syndrome

Author

Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, and Gecz, Jozef

Published
2020
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5. Metabolic setup and risks in obese children

Author

Kocova Mirjana, Sukarova-Angelovska Elena, Tanaskoska Milica, Palcevska-Kocevska Snezana, and Krstevska Marija

Subjects
adiponectin, children, leptin, insulinemia, metabolic setup, obesity, Biochemistry, QD415-436
Abstract

Background: In the past decades, the obesity epidemic in children of all ages has been an important research field for detecting the metabolic causes and consequences of obesity, the major focus being on insulin and adipocytokine levels. Metabolic work-up in obese children is recommended in the age group as young as 2-6 years. There is evidence that birth weight can be a factor causing obesity later in life accompanied by metabolic complications. Methods: Insulin, leptin, and adiponectin levels were analyzed in 269 obese children and 60 controls, as well as 110 newborn children with different birth weight and different length of gestation, using standard methods. Results: In 53.6% of the obese children, complications of obesity such as diabetes mellitus, obesity, hyperlipidemia, heart attack or stroke were found in family members. The peak insulinemia on O G TT was significantly higher in the pubertal compared to the prepubertal group (110.5± 75.9 pU/mL versus 72.2±62.7 pU/mL) (p

Published
2015

6. Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes

Author

Brusco, Alfredo, primary, Giovenino, Chiara, additional, Trajkova, Slavica, additional, Pavinato, Lisa, additional, Cardaropoli, Simona, additional, Pullano, Verdiana, additional, Sukarova-Angelovska, Elena, additional, Carestiato, Silvia, additional, Salmin, Paola, additional, Rinninella, Antonina, additional, Battaglia, Anthony, additional, Bertoli, Luca, additional, Fadda, Antonio, additional, Palermo, Flavia, additional, Carli, Diana, additional, Mussa, Alessandro, additional, Dimartino, Paola, additional, Bruselles, Alessandro, additional, froukh, Tawfiq, additional, Mandrile, Giorgia, additional, Pasini, Barbara, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph, additional, Pippucci, Tommaso, additional, Tartaglia, Marco, additional, Rossato, Marzia, additional, Delledonne, Massimo, additional, and Ferrero, Giovanni Battista, additional

Published
2022
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7. Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome

Author

Ansari, Morad, primary, Halachev, Mihail, additional, Parry, David, additional, Campos, Jose L., additional, D’Souza, Elston N., additional, Barnett, Christopher, additional, Wilkie, Andrew O. M., additional, Barnicoat, Angela, additional, Patel, Chirag V., additional, Sukarova-Angelovska, Elena, additional, Girisha, Katta M., additional, Firth, Helen V., additional, Prescott, Katrina, additional, Wilson, Louise C., additional, McEntagart, Meriel, additional, Davidson, Rosemarie, additional, Lynch, Sally Ann, additional, Joss, Shelagh, additional, Holden, Simon T., additional, Lam, Wayne K., additional, Sisodiya, Sanjay M., additional, Green, Andrew J., additional, Poke, Gemma, additional, Whiffin, Nicola, additional, FitzPatrick, David R., additional, and Meynert, Alison, additional

Published
2022
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8. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Author

Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Hull, Brooke, Pan, Hongling, Bhadane, Pradnya, Longley, Colleen M., Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya, Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Hull, Brooke, Pan, Hongling, Bhadane, Pradnya, Longley, Colleen M., Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., and Yamamoto, Shinya

Abstract

Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through humanizationrescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.

Published
2022

10. Implementation of Novel Mode for Evaluation of MYCN Amplification that can Predict Outcome in Patients with Neuroblastoma

Author

Sukarova-Angelovska Elena, Gordana Ilieva, Mirjana Kocova, and Biljana Conevska

Subjects
medicine.medical_specialty, business.industry, Cell, Cytogenetics, Karyotype, medicine.disease, medicine.disease_cause, medicine.anatomical_structure, Neuroblastoma, Mycn amplification, medicine, Cancer research, General Earth and Planetary Sciences, In patient, Bone marrow, business, Carcinogenesis, neoplasms, General Environmental Science
Abstract

Background: Neuroblastoma tumorigenesis is a cascading process where several cytogenetic findings can be detected MYCN oncogene is a potent transcription factor that controls main cell functions. Several genetic methods can be applied in order to detect quantity of amplified MYCN oncogene. The purpose of this study is to improve the technique of determining the amplification of the MYCN oncogene in each evaluated tumor cell. Results: Standard G banded karyotype and fluorescence in-situ hybridization (FISH) on interphase nuclei using N-MYC amplification probe was performed in five patients with different clinical presentation of neuroblastoma. Both bone marrow and tumor tissue were analysed in four and in one patient only tumor tissue. Follow up study was performed in order to obtain additional prognostic information. Additional grading system was implemented to obtain MYCN amplification status. Significant amount of amplified units was detected in two patients with adverse outcome, which was not the case in other three patients who had minor or none amplification of MYCN. Furthermore, there were no cells with significant MYCN amplification in more than 30% of the cell surface in patient three and four that represented a good prognostic factor for their survival. Conclusion: Our study confirmed that patients with both chromosomal changes and significant MYCN amplification are characterized with aggressive clinical course. Accuracy in quantifying the amount of MYCN amplification is crucial in planning the therapeutic approach. FISH is proved to be rapid, sensitive, and reliable method for detection of MYCN oncogene amplification in routinely processed samples.

Published
2020
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11. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Author

Marcogliese, Paul C., primary, Deal, Samantha L., additional, Andrews, Jonathan, additional, Harnish, J. Michael, additional, Bhavana, V. Hemanjani, additional, Graves, Hillary K., additional, Jangam, Sharayu, additional, Luo, Xi, additional, Liu, Ning, additional, Bei, Danqing, additional, Chao, Yu-Hsin, additional, Hull, Brooke, additional, Lee, Pei-Tseng, additional, Pan, Hongling, additional, Bhadane, Pradnya, additional, Huang, Mei-Chu, additional, Longley, Colleen M., additional, Chao, Hsiao-Tuan, additional, Chung, Hyung-lok, additional, Haelterman, Nele A., additional, Kanca, Oguz, additional, Manivannan, Sathiya N., additional, Rossetti, Linda Z., additional, German, Ryan J., additional, Gerard, Amanda, additional, Schwaibold, Eva Maria Christina, additional, Fehr, Sarah, additional, Guerrini, Renzo, additional, Vetro, Annalisa, additional, England, Eleina, additional, Murali, Chaya N., additional, Barakat, Tahsin Stefan, additional, van Dooren, Marieke F., additional, Wilke, Martina, additional, van Slegtenhorst, Marjon, additional, Lesca, Gaetan, additional, Sabatier, Isabelle, additional, Chatron, Nicolas, additional, Brownstein, Catherine A., additional, Madden, Jill A., additional, Agrawal, Pankaj B., additional, Keren, Boris, additional, Courtin, Thomas, additional, Perrin, Laurence, additional, Brugger, Melanie, additional, Roser, Timo, additional, Leiz, Steffen, additional, Mau-Them, Frederic Tran, additional, Delanne, Julian, additional, Sukarova-Angelovska, Elena, additional, Trajkova, Slavica, additional, Rosenhahn, Erik, additional, Strehlow, Vincent, additional, Platzer, Konrad, additional, Keller, Roberto, additional, Pavinato, Lisa, additional, Brusco, Alfredo, additional, Rosenfeld, Jill A., additional, Marom, Ronit, additional, Wangler, Michael F., additional, and Yamamoto, Shinya, additional

Published
2022
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13. Two cases of non-syndromic congenital unilateral breast hypoplasia in one family

Author

Krstevska-Konstantinova, Marina, Kuzevska-Maneva, Konstandina, Sukarova-Angelovska, Elena, Stamatova, Ana, Tasic, Velibor, Gucev, Zoran, and Hаefele, Julia

Subjects
микромастија, хипоплазија на дојки, пубертетски аномалии, breast hypoplasia, micromastia, pubertal abnormalities
Abstract

Micromastia or breast hypoplasia is described as underdevelopment of a woman’s mammary tissue. We present the case of a 15-year-old girl with unilateral micromastia, with familial predisposition. Ultrasound, hormonal, dysmorphic, cardiologic, genetic examinations and testing were performed. No mutation in the whole- exome sequencing was found, nor novel mutation. Some of these cases have been reported to be related to breаst cancer so further follow-up is mandatory. Therapy consists of surgical reconstruction of the affected breast. This is a rare condition and it requires a multidisciplinary approach., Микромастија или хипоплазија на дојки е опишана како недоразвиеност на ткивото на дојката кај жените. Опишавме случај на 15-годишно девојче со унилатерална микромастија со фамилијарна предиспозиција. Беа направени ехосонографски, хормонални, дисморфични, кардиолошки и генетски испитувања и тестови. Не беше пронајдена мутација на целокупниот секвенциониран ексом, ниту пак нова мутација. Некои од овие случаи се прикажани како да се поврзани со канцер на дојката и затоа се потребни понатамошни задолжителни следења. Терапијата се состои од хируршка реконструкција на афектираната дојка. Ова претставува ретка состојба, но бара мултидисциплинарен пристап.

Published
2020

19. Metabolic profile of neonates with different duration of gestation and different size at birth

Author

Kocova, Mirjana, Palcevska, Snezana, Sukarova-Angelovska, Elena, Krstevska, Marija, and Zisovska, Elizabeta

Subjects
Clinical medicine
Abstract

Трудот е презентиран и печатен на симпозиум посветен на ендокринолошките проблеми и метаболниот профил кај деца со различна гестациска возраст и големина на раѓањето, барајќи асоцијација помеѓу трофиката и метаболниот профил.

Published
2014

27. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Author

Ferraris, Alessandro, Bernardini, Laura, Sabolic Avramovska, Vesna, Zanni, Ginevra, Loddo, Sara, Sukarova-Angelovska, Elena, Parisi, Valentina, Capalbo, Anna, Tumini, Stefano, Travaglini, Lorena, Mancini, Francesca, Duma, Filip, Barresi, Sabina, Novelli, Antonio, Mercuri, Eugenio, Tarani, Luigi, Bertini, Enrico, Dallapiccola, Bruno, and Valente, Enza Maria

Subjects
DANDY-Walker syndrome, GENETIC polymorphisms, PHENOTYPES, LABORATORY mice, GENES, GENETIC research
Abstract

Background: The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results: Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions: Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS. [ABSTRACT FROM AUTHOR]

Published
2013
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28. A new case with 10q23 interstitial deletion encompassing both PTENand BMPR1Anarrows the genetic region deleted in juvenile polyposis syndrome

Author

Hiljadnikova Bajro, Marija, Sukarova-Angelovska, Elena, Adélaïde, Jose, Chaffanet, Max, and Dimovski, Aleksandar

Abstract

We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1Aand PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRRS). The patient presented dysmorphic features as well as developmental delay at the age of 5 months. Multiple polyps along all parts of the colon were diagnosed at the age of 3 years, following an episode of a severe abdominal pain and intestinal bleeding. The high-resolution comparative genomic hybridisation revealed a 3.7-Mb deletion within the 10q23 chromosomal region: 86,329,859–90,035,024. The genotyping with four polymorphic microsatellite markers confirmed a de novo10q deletion on the allele with a paternal origin, encompassing both PTENand BMPR1Agenes. The karyotype analysis additionally identified a balanced translocation involving chromosomes 5q and 7q, and an inversion at chromosome 2, i.e. 46,XY,t(5;7)(q13.3-q36), inv(2)(p25q34). Although many genetic defects were detected, it is most likely that the 10q23 deletion is primarily the cause for the serious phenotypic manifestations. The current clinical findings and deletion of BMPR1Aindicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTENdeletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novocharacter of the deletion. The deletion detected in our patient narrows the genetic region deleted in all reported cases with juvenile polyposis by 0.04 Mb from the telomeric side, mapping it to the region chr10:88.5–90.03Mb (GRCh37/hg19), with an overall length of 1.53 Mb.We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1Aand PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRRS). The patient presented dysmorphic features as well as developmental delay at the age of 5 months. Multiple polyps along all parts of the colon were diagnosed at the age of 3 years, following an episode of a severe abdominal pain and intestinal bleeding. The high-resolution comparative genomic hybridisation revealed a 3.7-Mb deletion within the 10q23 chromosomal region: 86,329,859–90,035,024. The genotyping with four polymorphic microsatellite markers confirmed a de novo10q deletion on the allele with a paternal origin, encompassing both PTENand BMPR1Agenes. The karyotype analysis additionally identified a balanced translocation involving chromosomes 5q and 7q, and an inversion at chromosome 2, i.e. 46,XY,t(5;7)(q13.3-q36), inv(2)(p25q34). Although many genetic defects were detected, it is most likely that the 10q23 deletion is primarily the cause for the serious phenotypic manifestations. The current clinical findings and deletion of BMPR1Aindicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTENdeletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novocharacter of the deletion. The deletion detected in our patient narrows the genetic region deleted in all reported cases with juvenile polyposis by 0.04 Mb from the telomeric side, mapping it to the region chr10:88.5–90.03Mb (GRCh37/hg19), with an overall length of 1.53 Mb.

Published
2013
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29. Drosophilafunctional screening of de novovariants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Author

Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., and Yamamoto, Shinya

Abstract

Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novomutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivoremains unclear. We functionally test the effects of ASD missense DNMs using Drosophilathrough “humanization” rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.

Published
2022
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