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Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Published in:
Human Genetics, 2023, v. 142, n. 9, p. 1385, doi. 10.1007/s00439-023-02578-6
By:
- Levy, Tess;
- Pichardo, Thariana;
- Silver, Hailey;
- Lerman, Bonnie;
- Zweifach, Jessica;
- Halpern, Danielle;
- Siper, Paige M.;
- Kolevzon, Alexander;
- Buxbaum, Joseph D.
Publication type:
Article
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00469-z
By:
- Trelles, M. Pilar;
- Levy, Tess;
- Lerman, Bonnie;
- Siper, Paige;
- Lozano, Reymundo;
- Halpern, Danielle;
- Walker, Hannah;
- Zweifach, Jessica;
- Frank, Yitzchak;
- Foss-Feig, Jennifer;
- Kolevzon, Alexander;
- Buxbaum, Joseph
Publication type:
Article
Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2023, v. 16, n. 3, p. 502, doi. 10.1002/aur.2884
By:
- Siecinski, Stephen K.;
- Giamberardino, Stephanie N.;
- Spanos, Marina;
- Hauser, Annalise C.;
- Gibson, Jason R.;
- Chandrasekhar, Tara;
- Trelles, Maria del Pilar;
- Rockhill, Carol M.;
- Palumbo, Michelle L.;
- Cundiff, Allyson Witters;
- Montgomery, Alicia;
- Siper, Paige;
- Minjarez, Mendy;
- Nowinski, Lisa A.;
- Marler, Sarah;
- Kwee, Lydia C.;
- Shuffrey, Lauren C.;
- Alderman, Cheryl;
- Weissman, Jordana;
- Zappone, Brooke
Publication type:
Article
Assessing the utility of electronic measures as a proxy for cognitive ability.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 6, p. 988, doi. 10.1002/aur.2704
By:
- Levy, Tess;
- Britvan, Bari;
- Grosman, Hannah;
- Giserman‐Kiss, Ivy;
- Meyering, Kristin;
- Weissman, Jordana;
- Halpern, Danielle;
- Zweifach, Jessica;
- Trelles, M. Pilar;
- Foss‐Feig, Jennifer H.;
- Kolevzon, Alexander;
- Sanders, Stephan J.;
- Robinson, Elise B.;
- Buxbaum, Joseph D.;
- Bishop, Somer;
- Siper, Paige M.
Publication type:
Article
Objective frequency analysis of transient visual evoked potentials in autistic children.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 3, p. 464, doi. 10.1002/aur.2654
By:
- Brittenham, Chloe;
- Gordon, James;
- Zemon, Vance M.;
- Siper, Paige M.
Publication type:
Article
Social cognitive skills groups increase medial prefrontal cortex activity in children with autism spectrum disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 12, p. 2495, doi. 10.1002/aur.2603
By:
- Ibrahim, Karim;
- Soorya, Latha V.;
- Halpern, Danielle B.;
- Gorenstein, Michelle;
- Siper, Paige M.;
- Wang, A. Ting
Publication type:
Article
Rethinking autism spectrum disorder assessment for children during COVID‐19 and beyond.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 11, p. 2251, doi. 10.1002/aur.2615
By:
- Zwaigenbaum, Lonnie;
- Bishop, Somer;
- Stone, Wendy L.;
- Ibanez, Lisa;
- Halladay, Alycia;
- Goldman, Sylvie;
- Kelly, Amy;
- Klaiman, Cheryl;
- Lai, Meng‐Chuan;
- Miller, Meghan;
- Saulnier, Celine;
- Siper, Paige;
- Sohl, Kristin;
- Warren, Zachary;
- Wetherby, Amy
Publication type:
Article
Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1383, doi. 10.1002/aur.2299
By:
- Gergoudis, Kellie;
- Weinberg, Alan;
- Templin, Jonathan;
- Farmer, Cristan;
- Durkin, Alison;
- Weissman, Jordana;
- Siper, Paige;
- Foss‐Feig, Jennifer;
- Pilar Trelles, Maria;
- Bernstein, Jonathan A.;
- Buxbaum, Joseph D.;
- Berry‐Kravis, Elizabeth;
- Powell, Craig M.;
- Sahin, Mustafa;
- Soorya, Latha;
- Thurm, Audrey;
- Kolevzon, Alexander
Publication type:
Article
A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2017, v. 10, n. 6, p. 1133, doi. 10.1002/aur.1750
By:
- Siper, Paige M.;
- Kolevzon, Alexander;
- Wang, A. Ting;
- Buxbaum, Joseph D.;
- Tavassoli, Teresa
Publication type:
Article
A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2016, v. 9, n. 4, p. 443, doi. 10.1002/aur.1539
By:
- Grodberg, David;
- Siper, Paige;
- Jamison, Jesslyn;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander
Publication type:
Article
Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism.
Published in:
Journal of Autism & Developmental Disorders, 2024, v. 54, n. 2, p. 794, doi. 10.1007/s10803-022-05587-y
By:
- Rouhandeh, Audrey A.;
- Honsberger, Christine;
- Shanok, Nathaniel A.;
- Lozott, Erin Brooker;
- Levy, Tess;
- Kolevzon, Alexander;
- Buxbaum, Joseph D.;
- Sotelo, Marlene;
- Foss-Feig, Jennifer;
- Siper, Paige M.
Publication type:
Article
The Immersive Theater Experience for Individuals with Autism Spectrum Disorder.
Published in:
Journal of Autism & Developmental Disorders, 2020, v. 50, n. 3, p. 1073, doi. 10.1007/s10803-019-04284-7
By:
- Giserman-Kiss, Ivy;
- Gorenstein, Michelle;
- Feldman, Elyana;
- Rowe, Mikaela;
- Grosman, Hannah;
- Weissman, Jordana;
- Rouhandeh, Audrey;
- Wilkinson, Emma;
- Meyering, Kristin;
- Durkin, Allison;
- Isenstein, Emily;
- Kolevzon, Alexander;
- Buxbaum, Joseph D.;
- Siper, Paige M.
Publication type:
Article
Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder.
Published in:
Journal of Autism & Developmental Disorders, 2017, v. 47, n. 6, p. 1605, doi. 10.1007/s10803-017-3082-8
By:
- Rankine, Jacquelin;
- Li, Erin;
- Lurie, Stacey;
- Rieger, Hillary;
- Fourie, Emily;
- Siper, Paige;
- Wang, A.;
- Buxbaum, Joseph;
- Kolevzon, Alexander
Publication type:
Article
Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale.
Published in:
Journal of Autism & Developmental Disorders, 2016, v. 46, n. 1, p. 287, doi. 10.1007/s10803-015-2578-3
By:
- Tavassoli, Teresa;
- Bellesheim, Katherine;
- Siper, Paige;
- Wang, A.;
- Halpern, Danielle;
- Gorenstein, Michelle;
- Grodberg, David;
- Kolevzon, Alexander;
- Buxbaum, Joseph
Publication type:
Article
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
Published in:
Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09358-1
By:
- Lozano, Reymundo;
- Gbekie, Catherine;
- Siper, Paige M.;
- Srivastava, Shubhika;
- Saland, Jeffrey M.;
- Sethuram, Swathi;
- Tang, Lara;
- Drapeau, Elodie;
- Frank, Yitzchak;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander
Publication type:
Article
Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2016, v. 8, n. 1, p. 1, doi. 10.1186/s11689-016-9138-9
By:
- Wang, A.;
- Lim, Teresa;
- Jamison, Jesslyn;
- Bush, Lauren;
- Soorya, Latha;
- Tavassoli, Teresa;
- Siper, Paige;
- Buxbaum, Joseph;
- Kolevzon, Alexander
Publication type:
Article
Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2016, v. 8, n. 1, p. 1, doi. 10.1186/s11689-016-9138-9
By:
- Wang, A.;
- Lim, Teresa;
- Jamison, Jesslyn;
- Bush, Lauren;
- Soorya, Latha;
- Tavassoli, Teresa;
- Siper, Paige;
- Buxbaum, Joseph;
- Kolevzon, Alexander
Publication type:
Article
Detecting Autism Spectrum Disorder in Children With ADHD and Social Disability.
Published in:
2020
By:
- Øien, Roald A.;
- Siper, Paige;
- Kolevzon, Alexander;
- Grodberg, David
Publication type:
journal article
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 15, p. 2582, doi. 10.1093/hmg/ddac018
By:
- Levy, Tess;
- Lerman, Bonnie;
- Halpern, Danielle;
- Frank, Yitzchak;
- Layton, Christina;
- Zweifach, Jessica;
- Siper, Paige M;
- Buxbaum, Joseph D;
- Kolevzon, Alexander
Publication type:
Article
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280
By:
- Levy, Tess;
- Foss-Feig, Jennifer H;
- Betancur, Catalina;
- Siper, Paige M;
- Trelles-Thorne, Maria del Pilar;
- Halpern, Danielle;
- Frank, Yitzchak;
- Lozano, Reymundo;
- Layton, Christina;
- Britvan, Bari;
- Bernstein, Jonathan A;
- Buxbaum, Joseph D;
- Berry-Kravis, Elizabeth;
- Powell, Craig M;
- Srivastava, Siddharth;
- Sahin, Mustafa;
- Soorya, Latha;
- Thurm, Audrey;
- Kolevzon, Alexander;
- Consortium, the Developmental Synaptopathies
Publication type:
Article
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09541-0
By:
- Levy, Tess;
- Gluckman, Jacob;
- Siper, Paige M.;
- Halpern, Danielle;
- Zweifach, Jessica;
- Filip-Dhima, Rajna;
- Holder Jr., J. Lloyd;
- Trelles, M. Pilar;
- Johnson, Kristina;
- Bernstein, Jonathan A.;
- Berry-Kravis, Elizabeth;
- Powell, Craig M.;
- Soorya, Latha Valluripalli;
- Thurm, Audrey;
- Buxbaum, Joseph D.;
- Sahin, Mustafa;
- Kolevzon, Alexander;
- Srivastava, Siddharth
Publication type:
Article
Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.
Published in:
Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09400-2
By:
- Guillory, Sylvia B.;
- Baskett, Victoria Z.;
- Grosman, Hannah E.;
- McLaughlin, Christopher S.;
- Isenstein, Emily L.;
- Wilkinson, Emma;
- Weissman, Jordana;
- Britvan, Bari;
- Trelles, M. Pilar;
- Halpern, Danielle B.;
- Buxbaum, Joseph D.;
- Siper, Paige M.;
- Wang, A. Ting;
- Kolevzon, Alexander;
- Foss-Feig, Jennifer H.
Publication type:
Article
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09398-7
By:
- Srivastava, Siddharth;
- Condy, Emma;
- Carmody, Erin;
- Filip-Dhima, Rajna;
- Kapur, Kush;
- Bernstein, Jonathan A.;
- Berry-Kravis, Elizabeth;
- Powell, Craig M.;
- Soorya, Latha;
- Thurm, Audrey;
- Buxbaum, Joseph D.;
- Sahin, Mustafa;
- Kolevzon, Alexander;
- on behalf of Developmental Synaptopathies Consortium;
- Kolevzon, Alexander;
- Kravis, Elizabeth Berry;
- Powell, Craig;
- Warfield, Simon;
- Dies, Kira;
- Siper, Paige
Publication type:
Article
Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials.
Published in:
PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164422
By:
- Siper, Paige M.;
- Zemon, Vance;
- Gordon, James;
- George-Jones, Julia;
- Lurie, Stacey;
- Zweifach, Jessica;
- Tavassoli, Teresa;
- Wang, A. Ting;
- Jamison, Jesslyn;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander
Publication type:
Article
Neuropsychological Assessment in Autism Spectrum Disorder.
Published in:
2021
By:
- Braconnier, Megan L.;
- Siper, Paige M.
Publication type:
journal article
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00408-w
By:
- AlMail, Ali;
- Jamjoom, Ahmed;
- Pan, Amy;
- Feng, Min Yi;
- Chau, Vann;
- D'Gama, Alissa M.;
- Howell, Katherine;
- Liang, Nicole S. Y.;
- McTague, Amy;
- Poduri, Annapurna;
- Wiltrout, Kimberly;
- Bassett, Anne S.;
- Christodoulou, John;
- Dupuis, Lucie;
- Gill, Peter;
- Levy, Tess;
- Siper, Paige;
- Stark, Zornitza;
- Vorstman, Jacob A. S.;
- Diskin, Catherine
Publication type:
Article
Reduced engagement of visual attention in children with autism spectrum disorder.
Published in:
Autism: The International Journal of Research & Practice, 2021, v. 25, n. 7, p. 2064, doi. 10.1177/13623613211010072
By:
- McLaughlin, Christopher S;
- Grosman, Hannah E;
- Guillory, Sylvia B;
- Isenstein, Emily L;
- Wilkinson, Emma;
- Trelles, Maria del Pilar;
- Halpern, Danielle B;
- Siper, Paige M;
- Kolevzon, Alexander;
- Buxbaum, Joseph D;
- Wang, A Ting;
- Foss-Feig, Jennifer H
Publication type:
Article
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00431-z
By:
- Tang, Lara;
- Levy, Tess;
- Guillory, Sylvia;
- Halpern, Danielle;
- Zweifach, Jessica;
- Giserman-Kiss, Ivy;
- Foss-Feig, Jennifer H.;
- Frank, Yitzchak;
- Lozano, Reymundo;
- Belani, Puneet;
- Layton, Christina;
- Lerman, Bonnie;
- Frowner, Emanuel;
- Breen, Michael S.;
- De Rubeis, Silvia;
- Kostic, Ana;
- Kolevzon, Alexander;
- Buxbaum, Joseph D.;
- Siper, Paige M.;
- Grice, Dorothy E.
Publication type:
Article
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-020-00411-9
By:
- Mariscal, Michael. G.;
- Berry-Kravis, Elizabeth;
- Buxbaum, Joseph D.;
- Ethridge, Lauren E.;
- Filip-Dhima, Rajna;
- Foss-Feig, Jennifer H.;
- Kolevzon, Alexander;
- Modi, Meera. E.;
- Mosconi, Matthew W.;
- Nelson, Charles A.;
- Powell, Craig M.;
- Siper, Paige M.;
- Soorya, Latha;
- Thaliath, Andrew;
- Thurm, Audrey;
- Zhang, Bo;
- Sahin, Mustafa;
- Levin, April R.
Publication type:
Article
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <italic>SHANK3</italic> point mutations.
Published in:
Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0205-9
By:
- De Rubeis, Silvia;
- Siper, Paige M.;
- Durkin, Allison;
- Weissman, Jordana;
- Muratet, François;
- Halpern, Danielle;
- Trelles, Maria del Pilar;
- Frank, Yitzchak;
- Lozano, Reymundo;
- Wang, A. Ting;
- Holder, J. Lloyd;
- Betancur, Catalina;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander
Publication type:
Article
Prospective investigation of FOXP1 syndrome.
Published in:
Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0172-6
By:
- Siper, Paige M.;
- De Rubeis, Silvia;
- del Pilar Trelles, Maria;
- Durkin, Allison;
- Di Marino, Daniele;
- Muratet, François;
- Frank, Yitzchak;
- Lozano, Reymundo;
- Eichler, Evan E.;
- Kelly, Morgan;
- Beighley, Jennifer;
- Gerdts, Jennifer;
- Wallace, Arianne S.;
- Mefford, Heather C.;
- Bernier, Raphael A.;
- Kolevzon, Alexander;
- Buxbaum, Joseph D.
Publication type:
Article
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD.
Published in:
Genes, 2021, v. 12, n. 7, p. 977, doi. 10.3390/genes12070977
By:
- Tavassoli, Teresa;
- Layton, Christina;
- Levy, Tess;
- Rowe, Mikaela;
- George-Jones, Julia;
- Zweifach, Jessica;
- Lurie, Stacey;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander;
- Siper, Paige M.
Publication type:
Article
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.
Published in:
Genes, 2021, v. 12, n. 3, p. 351, doi. 10.3390/genes12030351
By:
- Siper, Paige M.;
- Layton, Christina;
- Levy, Tess;
- Lurie, Stacey;
- Benrey, Nurit;
- Zweifach, Jessica;
- Rowe, Mikaela;
- Tang, Lara;
- Guillory, Sylvia;
- Halpern, Danielle;
- Giserman-Kiss, Ivy;
- Del Pilar Trelles, Maria;
- Foss-Feig, Jennifer H.;
- De Rubeis, Silvia;
- Tavassoli, Teresa;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander;
- Gonda, Xenia
Publication type:
Article
Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.
Published in:
Frontiers in Neuroscience, 2022, p. 1, doi. 10.3389/fnins.2022.815933
By:
- Isenstein, Emily L.;
- Grosman, Hannah E.;
- Guillory, Sylvia B.;
- Zhang, Yian;
- Barkley, Sarah;
- McLaughlin, Christopher S.;
- Levy, Tess;
- Halpern, Danielle;
- Siper, Paige M.;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander;
- Foss-Feig, Jennifer H.
Publication type:
Article

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