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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Published in:
2016
By:
- D'Angelo, Debra;
- Lebon, Sébastien;
- Qixuan Chen;
- Martin-Brevet, Sandra;
- Green Snyder, LeeAnne;
- Hippolyte, Loyse;
- Hanson, Ellen;
- Maillard, Anne M.;
- Andrew Faucett, W.;
- Macé, Aurélien;
- Pain, Aurélie;
- Bernier, Raphael;
- Chawner, Samuel J. R. A.;
- David, Albert;
- Andrieux, Joris;
- Aylward, Elizabeth;
- Baujat, Genevieve;
- Caldeira, Ines;
- Conus, Philippe;
- Ferrari, Carrina
Publication type:
journal article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Published in:
Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
By:
- Linden, Stefanie C.;
- Watson, Cameron J.;
- Smith, Jacqueline;
- Chawner, Samuel J. R. A.;
- Lancaster, Thomas M.;
- Evans, Ffion;
- Williams, Nigel;
- Skuse, David;
- Raymond, F. Lucy;
- Hall, Jeremy;
- Owen, Michael J.;
- Linden, David E. J.;
- Green-Snyder, LeeAnne;
- Chung, Wendy K.;
- Maillard, Anne M.;
- Jacquemont, Sébastien;
- van den Bree, Marianne B. M.
Publication type:
Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Published in:
Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
By:
- Linden, Stefanie C.;
- Watson, Cameron J.;
- Smith, Jacqueline;
- Chawner, Samuel J. R. A.;
- Lancaster, Thomas M.;
- Evans, Ffion;
- Williams, Nigel;
- Skuse, David;
- Raymond, F. Lucy;
- Hall, Jeremy;
- Owen, Michael J.;
- Linden, David E. J.;
- Green-Snyder, LeeAnne;
- Chung, Wendy K.;
- Maillard, Anne M.;
- Jacquemont, Sébastien;
- van den Bree, Marianne B. M.
Publication type:
Article
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32058
By:
- Frazier, Thomas W.;
- Busch, Robyn M.;
- Klaas, Patricia;
- Lachlan, Katherine;
- Jeste, Shafali;
- Kolevzon, Alexander;
- Loth, Eva;
- Harris, Jacqueline;
- Speer, Leslie;
- Pepper, Tom;
- Anthony, Kristin;
- Graglia, J. Michael;
- Delagrammatikas, Christal G.;
- Bedrosian‐Sermone, Sandra;
- Smith‐Hicks, Constance;
- Huba, Katie;
- Longyear, Robert;
- Green‐Snyder, LeeAnne;
- Shic, Frederick;
- Sahin, Mustafa
Publication type:
Article
Language characterization in 16p11.2 deletion and duplication syndromes.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 380, doi. 10.1002/ajmg.b.32809
By:
- Kim, So Hyun;
- Green‐Snyder, LeeAnne;
- Lord, Catherine;
- Bishop, Somer;
- Steinman, Kyle J.;
- Bernier, Raphael;
- Hanson, Ellen;
- Goin‐Kochel, Robin P.;
- Chung, Wendy K.
Publication type:
Article
Developmental trajectories for young children with 16p11.2 copy number variation.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 367, doi. 10.1002/ajmg.b.32525
By:
- Bernier, Raphael;
- Hudac, Caitlin M.;
- Chen, Qixuan;
- Zeng, Chubing;
- Wallace, Arianne Stevens;
- Gerdts, Jennifer;
- Earl, Rachel;
- Peterson, Jessica;
- Wolken, Anne;
- Peters, Alana;
- Hanson, Ellen;
- Goin‐Kochel, Robin P.;
- Kanne, Stephen;
- Snyder, LeeAnne Green;
- Chung, Wendy K.
Publication type:
Article
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1954, doi. 10.1002/ajmg.a.62721
By:
- Fenster, Rebecca;
- Ziegler, Alban;
- Kentros, Catherine;
- Geltzeiler, Alexa;
- Green Snyder, LeeAnne;
- Brooks, Elizabeth;
- Chung, Wendy K.
Publication type:
Article
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2943, doi. 10.1002/ajmg.a.37820
By:
- Steinman, Kyle J.;
- Spence, Sarah J.;
- Ramocki, Melissa B.;
- Proud, Monica B.;
- Kessler, Sudha K.;
- Marco, Elysa J.;
- Green Snyder, LeeAnne;
- D'Angelo, Debra;
- Chen, Qixuan;
- Chung, Wendy K.;
- Sherr, Elliott H.
Publication type:
Article
Agreement of parent‐reported cognitive level with standardized measures among children with autism spectrum disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2023, v. 16, n. 6, p. 1210, doi. 10.1002/aur.2934
By:
- Lee, Chimei M.;
- Green Snyder, LeeAnne;
- Carpenter, Laura A.;
- Harris, Jill;
- Kanne, Stephen;
- Taylor, Cora M.;
- Sarver, Dustin E.;
- Stephenson, Kevin G.;
- Shulman, Lisa H.;
- Wodka, Ericka L.;
- Esler, Amy
Publication type:
Article
Imputing cognitive impairment in SPARK, a large autism cohort.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 1, p. 156, doi. 10.1002/aur.2622
By:
- Shu, Chang;
- Green Snyder, LeeAnne;
- Shen, Yufeng;
- Chung, Wendy K.
Publication type:
Article
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1300, doi. 10.1002/aur.2332
By:
- Hudac, Caitlin M.;
- Bove, Joanna;
- Barber, Shelley;
- Duyzend, Michael;
- Wallace, Ari;
- Martin, Christa Lese;
- Ledbetter, David H.;
- Hanson, Ellen;
- Goin‐Kochel, Robin P.;
- Green‐Snyder, LeeAnne;
- Chung, Wendy K.;
- Eichler, Evan E.;
- Bernier, Raphael A.
Publication type:
Article
Psychotic symptoms in 16p11.2 copy‐number variant carriers.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 2, p. 187, doi. 10.1002/aur.2232
By:
- Jutla, Amandeep;
- Turner, J. Blake;
- Green Snyder, LeeAnne;
- Chung, Wendy K.;
- Veenstra‐VanderWeele, Jeremy
Publication type:
Article
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0093-8
By:
- Feliciano, Pamela;
- Zhou, Xueya;
- Astrovskaya, Irina;
- Turner, Tychele N.;
- Wang, Tianyun;
- Brueggeman, Leo;
- Barnard, Rebecca;
- Hsieh, Alexander;
- Snyder, LeeAnne Green;
- Muzny, Donna M.;
- Sabo, Aniko;
- Gibbs, Richard A.;
- Eichler, Evan E.;
- O'Roak, Brian J.;
- Michaelson, Jacob J.;
- Volfovsky, Natalia;
- Shen, Yufeng;
- Chung, Wendy K.
Publication type:
Article
Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.
Published in:
Journal of Autism & Developmental Disorders, 2020, v. 50, n. 10, p. 3679, doi. 10.1007/s10803-020-04414-6
By:
- Fombonne, Eric;
- Green Snyder, LeeAnne;
- Daniels, Amy;
- Feliciano, Pamela;
- Chung, Wendy;
- The SPARK Consortium;
- Abbeduto, Leonard;
- Aberbach, Gabriella;
- Acampado, John;
- Ace, Andrea J.;
- Albright, Charles;
- Alessandri, Michael;
- Amaral, David G.;
- Amatya, Alpha;
- Anglo, Claudine;
- Annett, Robert D.;
- Arriaga, Ivette;
- Ashley, Raven;
- Astrovskaya, Irina;
- Baalman, Kelly
Publication type:
Article
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
Published in:
Journal of Autism & Developmental Disorders, 2016, v. 46, n. 8, p. 2734, doi. 10.1007/s10803-016-2807-4
By:
- Green Snyder, LeeAnne;
- D'Angelo, Debra;
- Chen, Qixuan;
- Bernier, Raphael;
- Goin-Kochel, Robin;
- Wallace, Arianne;
- Gerdts, Jennifer;
- Kanne, Stephen;
- Berry, Leandra;
- Blaskey, Lisa;
- Kuschner, Emily;
- Roberts, Timothy;
- Sherr, Elliot;
- Martin, Christa;
- Ledbetter, David;
- Spiro, John;
- Chung, Wendy;
- Hanson, Ellen
Publication type:
Article
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
Published in:
Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0441-6
By:
- Niarchou, Maria;
- Chawner, Samuel J. R. A.;
- Doherty, Joanne L.;
- Maillard, Anne M.;
- Jacquemont, Sébastien;
- Chung, Wendy K.;
- Green-Snyder, LeeAnne;
- Bernier, Raphael A.;
- Goin-Kochel, Robin P.;
- Hanson, Ellen;
- Linden, David E. J.;
- Linden, Stefanie C.;
- Raymond, F. Lucy;
- Skuse, David;
- Hall, Jeremy;
- Owen, Michael J.;
- van den Bree, Marianne B. M.
Publication type:
Article
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Published in:
Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-018-0339-8
By:
- Niarchou, Maria;
- Chawner, Samuel J. R. A.;
- Doherty, Joanne L.;
- Maillard, Anne M.;
- Jacquemont, Sébastien;
- Chung, Wendy K.;
- Green-Snyder, LeeAnne;
- Bernier, Raphael A.;
- Goin-Kochel, Robin P.;
- Hanson, Ellen;
- Linden, David E. J.;
- Linden, Stefanie C.;
- Raymond, F. Lucy;
- Skuse, David;
- Hall, Jeremy;
- Owen, Michael J.;
- Bree, Marianne B. M. van den
Publication type:
Article
Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
Published in:
Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 723, doi. 10.1111/dmcn.15164
By:
- Aravamuthan, Bhooma R.;
- Shusterman, Michele;
- Green Snyder, Leeanne;
- Lemmon, Monica E.;
- Bain, Jennifer M.;
- Gross, Paul
Publication type:
Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Published in:
Journal of Neurodevelopmental Disorders, 2022, v. 14, p. 1, doi. 10.1186/s11689-022-09449-7
By:
- Bain, Jennifer M.;
- Snyder, LeeAnne Green;
- Helbig, Katherine L.;
- Cooper, Dominique D.;
- Chung, Wendy K.;
- Goodspeed, Kimberly
Publication type:
Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Published in:
Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09449-7
By:
- Bain, Jennifer M.;
- Snyder, LeeAnne Green;
- Helbig, Katherine L.;
- Cooper, Dominique D.;
- Chung, Wendy K.;
- Goodspeed, Kimberly
Publication type:
Article
Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.
Published in:
Journal of Child Psychology, 2021, v. 62, n. 11, p. 1297, doi. 10.1111/jcpp.13492
By:
- Wickstrom, Jordan;
- Farmer, Cristan;
- Green Snyder, LeeAnne;
- Mitz, Andrew R.;
- Sanders, Stephan J.;
- Bishop, Somer;
- Thurm, Audrey
Publication type:
Article

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