Beverly S. Emanuel - Publications, H-index & Citations

Beverly S. Emanuel

University of Pennsylvania

82H指数

419论文数

2.4W被引数

收录论文 126

发表时间

22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously

Genes

IF2.8

2026-01-26

OAAI

Jennifer Borowka; Terrence Blaine Crowley; Ashika Mani; Victoria Guinta; Daniel E. McGinn; Bekah Wang; Audrey Green; Lydia Rockart; Oanh Tran; Beverly S. Emanuel; Elaine H. Zackai; Lorraine Dugoff; Kathleen Valverde; Donna M. McDonald-McGinn

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions 22q11.22-23远端染色体缺失个体中先天性心脏病的发生率及谱系

Clinical Genetics

IF2.3

2025-12-01

OAAI

Nelson, Tanner J.; McGinn, Daniel E.; Crowley, T. Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M. Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S.; Zackai, Elaine H.; Zhang, Zhengdong D.; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S.; Morrow, Bernice E.; McDonald-McGinn, Donna M.

Optical Mapping in Black Genomes: Distinct LCR22 Structures and 22q11.2 Deletion Syndrome Mechanisms 黑人群体的基因组光学图谱：独特的LCR22结构及22q11.2缺失综合征机制

Genetics in Medicine

IF6.2

2025-10-21

PREAI

Steven Pastor; Oanh Tran; Ryan Lapointe; Arnold Z. Olali; Douglas C. Wallace; Bernice Morrow; Elaine H. Zackai; Donna M. McDonald-McGinn; Beverly S. Emanuel

ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome ZNF280A将DNA双链断裂修复与人类22 q11.2远端缺失综合征联系起来

Nature Cell Biology

IF19.1

2025-06-16

PREAI

Thomas L. Clarke; Hyo Min Cho; Ilaria Ceppi; Boya Gao; Tribhuwan Yadav; Giorgia G. Silveira; Ruben Boon; Barbara Martinez-Pastor; Nana Yaa A. Amoh; Belen Machin; Tiziano Bernasocchi; Dua Ashfaq; Josefina Mendez; Zeeba Kamaliyan; José Del Río Pantoja; Giuliana Sardi Rogines; Blaine T. Crowley; Daniel E. McGinn; Victoria Giunta; Oanh Tran; Elaine H. Zackai; Li Lan; Lee Zou; Beverly S. Emanuel; Donna M. McDonald-McGinn; Petr Cejka; Raul Mostoslavsky

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome

NATURE COMMUNICATIONS

IF15.7

2024-12-05

OAAI

Eom, Tae-Yeon; Schmitt, J. Eric; Li, Yiran; Davenport, Christopher M.; Steinberg, Jeffrey; Bonnan, Audrey; Alam, Shahinur; Ryu, Young Sang; Paul, Leena; Hansen, Baranda S.; Khairy, Khaled; Pelletier, Stephane; Pruett-Miller, Shondra M.; Roalf, David R.; Gur, Raquel E.; Emanuel, Beverly S.; McDonald-McGinn, Donna M.; Smith, Jesse N.; Li, Cai; Christie, Jason M.; Northcott, Paul A.; Zakharenko, Stanislav S.

Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2024-03-15

PREAI

Frusone, Valentina; Maurer, Kelly; Emanuel, Beverly S.; McDonald-McGinn, Donna; Sullivan, Kathleen E.

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

2024-03-01

PREAI

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.

Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome 对22 q11.2缺失综合征患者的Penn计算机化神经认知电池的远程评估

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

IF2

2024-01-16

PREAI

White, L. K.; Hillman, N.; Ruparel, K.; Moore, T. M.; Gallagher, R. S.; Mcclellan, E. J.; Roalf, D. R.; Scott, J. C.; Calkins, M. E.; Mcginn, D. E.; Giunta, V.; Tran, O.; Crowley, T. B.; Zackai, E. H.; Emanuel, B. S.; McDonald-McGinn, D. M.; Gur, R. E.; Gur, R. C.

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome 基于源的形态计量学揭示了22 q11.2缺失综合征的结构性脑模式异常

HUMAN BRAIN MAPPING

IF3.3

2024-01-12

OAAI

Ge, Ruiyang; Ching, Christopher R. K.; Bassett, Anne S.; Kushan, Leila; Antshel, Kevin M.; van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy J.; Campbell, Linda E.; Chow, Eva W. C.; Craig, Michael; Crossley, Nicolas A.; Cunningham, Adam; Daly, Eileen; Doherty, Joanne L.; Durdle, Courtney A.; Emanuel, Beverly S.; Fiksinski, Ania; Forsyth, Jennifer K.; Fremont, Wanda; Goodrich-Hunsaker, Naomi J.; Gudbrandsen, Maria; Gur, Raquel E.; Jalbrzikowski, Maria; Kates, Wendy R.; Lin, Amy; Linden, David E. J.; Mccabe, Kathryn L.; McDonald-McGinn, Donna; Moss, Hayley; Murphy, Declan G.; Murphy, Kieran C.; Owen, Michael J.; Villalon-Reina, Julio E.; Repetto, Gabriela M.; Roalf, David R.; Ruparel, Kosha; Schmitt, J. Eric; Schuite-Koops, Sanne; Angkustsiri, Kathleen; Sun, Daqiang; Vajdi, Ariana; van den Bree, Marianne; Vorstman, Jacob; Thompson, Paul M.; Vila-Rodriguez, Fidel; Bearden, Carrie E.

Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome 患有22 q11.2缺失综合征的青年的纵向研究中的精神病谱特征，神经认知和功能

PSYCHOLOGICAL MEDICINE

IF5.5

2023-03-29

OAAI

Gur, Raquel E.; McDonald-McGinn, Donna M.; Moore, Tyler M.; Gallagher, R. Sean; McClellan, Emily; White, Lauren; Ruparel, Kosha; Hillman, Noah; Crowley, T. Blaine; McGinn, Daniel E.; Zackai, Elaine; Emanuel, Beverly S.; Calkins, Monica E.; Roalf, David R.; Gur, Ruben C.

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

2023-03-03

PREAI

Lin, Jhih-Rong; Zhao, Yingjie; Jabalameli, M. Reza; Nguyen, Nha; Mitra, Joydeep; Swillen, Ann; Vorstman, Jacob A. S.; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; Owen, Michael J.; Williams, Nigel M.; Bassett, Anne S.; McDonald-McGinn, Donna M.; Gur, Raquel E.; Bearden, Carrie E.; Morrow, Bernice E.; Lachman, Herbert M.; Zhang, Zhengdong D.

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications 染色体22 q11.2重复患者的免疫学，分子和临床特征

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2023-02-03

PREAI

Bhattarai, Dharmagat; McGinn, Daniel E.; Crowley, T. Blaine; Giunta, Victoria; Gaiser, Kimberly; Zackai, Elaine H.; Emanuel, Beverly S.; Heimall, Jennifer; Jyonouchi, Soma; Lee, Juhee; Sun, Di; McDonald-McGinn, Donna M.; Sullivan, Kathleen E.

A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome 22 q11.2缺失综合征小脑体积的综合分析

BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING

IF4.8

2023-01-01

OAAI

Schmitt, J. Eric; DeBevits, John J.; Roalf, David R.; Ruparel, Kosha; Gallagher, R. Sean; Gur, Ruben C.; Alexander-Bloch, Aaron; Eom, Tae-Yeon; Alam, Shahinur; Steinberg, Jeffrey; Akers, Walter; Khairy, Khaled; Crowley, T. Blaine; Emanuel, Beverly; Zakharenko, Stanislav S.; McDonald-McGinn, Donna M.; Gur, Raquel E.

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing 面部影响加工过程中染色体22 q11.2缺失综合征的功能性脑动力学改变

MOLECULAR PSYCHIATRY

IF10.1

2021-10-22

OAAI

Cornblath, Eli J.; Mahadevan, Arun; He, Xiaosong; Ruparel, Kosha; Lydon-Staley, David M.; Moore, Tyler M.; Gur, Ruben C.; Zackai, Elaine H.; Emanuel, Beverly; McDonald-McGinn, Donna M.; Wolf, Daniel H.; Satterthwaite, Theodore D.; Roalf, David R.; Gur, Raquel E.; Bassett, Dani S.

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome 22 q11.2缺失综合征中智商指标与计算机神经认知表现的关系

religion brain behavior

IF2.7

2021-07-02

OAAI

Gur, Ruben C.; Moore, Tyler M.; Weinberger, Ronnie; Mekori-Domachevsky, Ehud; Gross, Raz; Emanuel, Beverly S.; Zackai, Elaine H.; Moss, Edward; Gallagher, Robert Sean; McGinn, Daniel E.; Crowley, Terrence Blaine; McDonald-McGinn, Donna; Gothelf, Doron; Gur, Raquel E.

A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome 一项评估22 q11.2缺失综合征风险和弹性因素的双项研究

JOURNAL OF PSYCHIATRIC RESEARCH

IF3.2

2021-06-01

PREAI

Gur, Raquel E.; White, Lauren K.; Shani, Shachar; Barzilay, Ran; Moore, Tyler M.; Emanuel, Beverly S.; Zackai, Elaine H.; McDonald-McGinn, Donna M.; Matalon, Noam; Weinberger, Ronnie; Gur, Ruben C.; Gothelf, Doron

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs 拷贝数变化对大脑结构和精神疾病风险的影响: ENIGMA CNVs工作组的大规模研究

HUMAN BRAIN MAPPING

IF3.3

2021-02-21

OAAI

Sonderby, Ida E.; Ching, Christopher R. K.; Thomopoulos, Sophia I.; van Der Meer, Dennis; Sun, Daqiang; Villalon-Reina, Julio E.; Agartz, Ingrid; Amunts, Katrin; Arango, Celso; Armstrong, Nicola J.; Ayesa-Arriola, Rosa; Bakker, Geor; Bassett, Anne S.; Boomsma, Dorret I.; Bulow, Robin; Butcher, Nancy J.; Calhoun, Vince D.; Caspers, Svenja; Chow, Eva W. C.; Cichon, Sven; Ciufolini, Simone; Craig, Michael C.; Crespo-Facorro, Benedicto; Cunningham, Adam C.; Dale, Anders M.; Dazzan, Paola; de Zubicaray, Greig I.; Djurovic, Srdjann; Doherty, Joanne L.; Donohoe, Gary; Draganski, Bogdan; Durdle, Courtney A.; Ehrlich, Stefan; Emanuel, Beverly S.; Espeseth, Thomas; Fisher, Simon E.; Ge, Tian; Glahn, David C.; Grabe, Hans J.; Gur, Raquel E.; Gutman, Boris A.; Haavik, Jan; Haberg, Asta K.; Hansen, Laura A.; Hashimoto, Ryota; Hibar, Derrek P.; Holmes, Avram J.; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E.; Jalbrzikowski, Maria; Knowles, Emma E. M.; Kushan, Leila; Linden, David E. J.; Liu, Jingyu; Lundervold, Astri J.; Martin-Brevet, Sandra; Martinez, Kenia; Mather, Karen A.; Mathias, Samuel R.; McDonald-McGinn, Donna M.; McRae, Allan F.; Medland, Sarah E.; Moberget, Torgeir; Modenato, Claudia; Monereo Sanchez, Jennifer; Moreau, Clara A.; Muhleisen, Thomas W.; Paus, Tomas; Pausova, Zdenka; Prieto, Carlos; Ragothaman, Anjanibhargavi; Reinbold, Celine S.; Reis Marques, Tiago; Repetto, Gabriela M.; Reymond, Alexandre; Roalf, David R.; Rodriguez-Herreros, Borja; Rucker, James J.; Sachdev, Perminder S.; Schmitt, James E.; Schofield, Peter R.; Silva, Ana I.; Stefansson, Hreinn; Stein, Dan J.; Tamnes, Christian K.; Tordesillas-Gutierrez, Diana; Ulfarsson, Magnus O.; Vajdi, Ariana; van 't Ent, Dennis; van den Bree, Marianne B. M.; Vassos, Evangelos; Vazquez-Bourgon, Javier; Vila-Rodriguez, Fidel; Walters, G. Bragi; Wen, Wei; Westlye, Lars T.; Wittfeld, Katharina; Zackai, Elaine H.; Stefansson, Kari; Jacquemont, Sebastien; Thompson, Paul M.; Bearden, Carrie E.; Andreassen, Ole A.

Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations

HUMAN MOLECULAR GENETICS

IF3.2

2020-12-01

OAAI

Correll-Tash, Sarah; Lilley, Brenna; Salmons, Harold; Mlynarski, Elisabeth; Franconi, Colleen P.; McNamara, Meghan; Woodbury, Carson; Easley, Charles A.; Emanuel, Beverly S.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome 使用常见的遗传变异来检查22 q11.2缺失综合征的表型表达和风险预测

NATURE MEDICINE

IF50

2020-11-09

OAAI

Davies, Robert W.; Fiksinski, Ania M.; Breetvelt, Elemi J.; Williams, Nigel M.; Hooper, Stephen R.; Monfeuga, Thomas; Bassett, Anne S.; Owen, Michael J.; Gur, Raquel E.; Morrow, Bernice E.; McDonald-McGinn, Donna M.; Swillen, Ann; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; van Amelsvoort, Therese; Arango, Celso; Armando, Marco; Campbell, Linda E.; Cubells, Joseph F.; Eliez, Stephan; Garcia-Minaur, Sixto; Gothelf, Doron; Kates, Wendy R.; Murphy, Kieran C.; Murphy, Clodagh M.; Murphy, Declan G.; Philip, Nicole; Repetto, Gabriela M.; Shashi, Vandana; Simon, Tony J.; Suner, Damian Heine; Vicari, Stefano; Scherer, Stephen W.; Bearden, Carrie E.; Vorstman, Jacob A. S.

Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)

SCIENTIFIC REPORTS

IF3.9

2020-07-22

OAAI

Pastor, Steven; Tran, Oanh; Jin, Andrea; Carrado, Danielle; Silva, Benjamin A.; Uppuluri, Lahari; Abid, Heba Z.; Young, Eleanor; Crowley, T. Blaine; Bailey, Alice G.; McGinn, Daniel E.; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Xie, Michael; Taylor, Deanne; Morrow, Bernice E.; Xiao, Ming; Emanuel, Beverly S.

研究方向