Gur, Ruben C.; Bearden, Carrie E.; Jacquemont, Sebastien; Swillen, Ann; van Amelsvoort, Therese; van den Bree, Marianne; Vorstman, Jacob; Sebat, Jonathan; Ruparel, Kosha; Gallagher, Robert Sean; Mcclellan, Emily; White, Lauren; Crowley, Terrence Blaine; Giunta, Victoria; Kushan, Leila; O'Hora, Kathleen; Verbesselt, Jente; Vandensande, Ans; Vingerhoets, Claudia; van Haelst, Mieke; Hall, Jessica; Harwood, Janet; Chawner, Samuel J. R. A.; Patel, Nishi; Palad, Katrina; Hong, Oanh; Guevara, James; Martin, Charles Olivier; Jizi, Khadije; Belanger, Anne-Marie; Scherer, Stephen W.; Bassett, Anne S.; McDonald-McGinn, Donna M.; Gur, Raquel E.

The mental health and traumatic experiences of mothers of children with 22q11DS

22q11DS儿童母亲的精神卫生和创伤经历

EUROPEAN JOURNAL OF PSYCHOTRAUMATOLOGY

IF4.1

2024-05-232

OAAI

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

GENETICS IN MEDICINE

IF6.2

2024-04-011

PRE

Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

IF8.4

2024-03-012

PRE

Freud, Lindsay R.; Galloway, Stephanie; Crowley, Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kazmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl -Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Buil, Ana Achon; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; -Haug, Louise Wilkins; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; Mcglynn, Julie; Grati, Francesca Romana; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, William; Goldmuntz, Elizabeth; Mcginn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; McDonald-McGinn, Donna M.

Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

IF3.5

2024-02-033

OAAI

The relationship between oxidative stress and psychotic disorders in 22q11.2 deletion syndrome

BRAIN BEHAVIOR AND IMMUNITY

IF7.6

2023-11-011

PRE

Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia

罕见的编码变体作为22 q11.2缺失的风险修饰语暗示了综合征型精神分裂症的产后皮质发育

MOLECULAR PSYCHIATRY

IF10.1

2023-03-033

PRE

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

治疗22 q11.2缺失综合征成人的更新临床实践建议

GENETICS IN MEDICINE

IF6.2

2023-03-0129

OAAI

Boot, Erik; Oskarsdottir, Solveig; Loo, Joanne C. Y.; Crowley, Terrence Blaine; Orchanian-Cheff, Ani; Andrade, Danielle M.; Arganbright, Jill M.; Castelein, Rene M.; Cserti-Gazdewich, Christine; de Reuver, Steven; Fiksinski, Ania M.; Klingberg, Gunilla; Lang, Anthony E.; Mascarenhas, Maria R.; Moss, Edward M.; Nowakowska, Beata Anna; Oechslin, Erwin; Palmer, Lisa; Repetto, Gabriela M.; Reyes, Nikolai Gil D.; Schneider, Maude; Silversides, Candice; Sullivan, Kathleen E.; Swillen, Ann; van Amelsvoort, Therese A. M. J.; Van Batavia, Jason P.; Vingerhoets, Claudia; McDonald-McGinn, Donna M.; Bassett, Anne S.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

管理22 q11.2缺失综合征儿童的更新临床实践建议

GENETICS IN MEDICINE

IF6.2

2023-03-0129

Oskarsdottir, Solveig; Boot, Erik; Crowley, Terrence Blaine; Loo, Joanne C. Y.; Arganbright, Jill M.; Armando, Marco; Baylis, Adriane L.; Breetvelt, Elemi J.; Castelein, Rene M.; Chadehumbe, Madeline; Cielo, Christopher M.; de Reuver, Steven; Eliez, Stephan; Fiksinski, Ania M.; Forbes, Brian J.; Gallagher, Emily; Hopkins, Sarah E.; Jackson, Oksana A.; Levitz-Katz, Lorraine; Klingberg, Gunilla; Lambert, Michele P.; Marino, Bruno; Mascarenhas, Maria R.; Moldenhauer, Julie; Moss, Edward M.; Nowakowska, Beata Anna; Orchanian-Cheff, Ani; Putotto, Carolina; Repetto, Gabriela M.; Schindewolf, Erica; Schneider, Maude; Solot, Cynthia B.; Sullivan, Kathleen E.; Swillen, Ann; Unolt, Marta; Van Batavia, Jason P.; Vingerhoets, Claudia; Vorstman, Jacob; Bassett, Anne S.; McDonald-McGinn, Donna M.

Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2022-12-0710

PRE

Ann Swillen

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