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N

Newell Belnap

Johns Hopkins University
H指数:14
被引数:762

个人简介

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工作经历

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荣誉奖项

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35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

35例HUWE1相关神经发育障碍患者及建议的临床评估

American Journal of Medical Genetics Part A
IF1.7
2026-09-010
OAAI
Li, Mindy H.; Coleman, Deziree L.; Hogan, Kelsey; Luz, Danielle; Bhandari, Lindsay; Belnap, Newell; Busa, Tiffany; Coutton, Charles; Dieterich, Klaus; Gorokhova, Svetlana; Hildebrandt, Clara; Logan, Rachel; Mariani, Milena; Morleo, Manuela; Nigro, Vincenzo; Pappas, John; Rabin, Rachel; Schoch, Kelly; Selicorni, Angelo; Shashi, Vandana; Spillmann, Rebecca; Sullivan, Jennifer; Tardy, Charlotte; Vergano, Samantha A. Schrier; Grill, Brock; Baranano, Kristin
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2024-03-110
OAAI
Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Russo, Rossana Sanchez; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux -Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjorg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E.; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D.; Corona, Rosario I.; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K.; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordona, Christopher T.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

神经发育障碍中Rett综合征样 (rtt-l) 表型趋同的遗传和蛋白质网络基础

CELLS
IF5.2
2023-05-213
OAAI
Frankel, Eric; Podder, Avijit; Sharifi, Megan; Pillai, Roshan; Belnap, Newell; Ramsey, Keri; Dodson, Julius; Venugopal, Pooja; Brzezinski, Molly; Llaci, Lorida; Gerald, Brittany; Mills, Gabrielle; Sanchez-Castillo, Meredith; Balak, Chris D.; Szelinger, Szabolcs; Jepsen, Wayne M.; Siniard, Ashley L.; Richholt, Ryan; Naymik, Marcus; Schrauwen, Isabelle; Craig, David W.; Piras, Ignazio S.; Huentelman, Matthew J.; Schork, Nicholas J.; Narayanan, Vinodh; Rangasamy, Sampathkumar
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-04-014
OAAI
Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V.
Gain- of- function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
ELIFE
IF0
2023-01-1716
OA
Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stephanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

NSD2的功能缺失和错义变异导致甲基化活性降低，并与不同的发育表型相关

GENETICS IN MEDICINE
IF6.2
2021-08-0132
OAAI
Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; van Ravenswaaij-Arts, Conny M. A.; Shinawi, Marwan; Andrews, Marisa; Attie-Bitach, Tania; Maystadt, Isabelle; Belnap, Newell; Benoit, Valerie; Delplancq, Geoffroy; de Vries, Bert B. A.; Grotto, Sarah; Lacombe, Didier; Larson, Austin; Mourmans, Jeroen; Ounap, Katrin; Petrilli, Giulia; Pfundt, Rolph; Ramsey, Keri; Blok, Lot Snijders; Tsatsaris, Vassilis; Vitobello, Antonio; Faivre, Laurence; Wheeler, Patricia G.; Wevers, Marijke R.; Wojcik, Monica; Zweier, Markus; Gozani, Or; Rauch, Anita
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
NEUROLOGY-GENETICS
IF3.7
2020-08-017
OAAI
Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P.; Shieh, Perry B.; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L.; Russell, Megan; Richholt, Ryan; De Both, Matt; Claasen, Ana M.; Schrauwen, Isabelle; Nelson, Stanley F.; Huentelman, Matthew J.; Craig, David W.; Yang, Samuel P.; Moore, Steven A.; Sivakumar, Kumaraswamy; Narayanan, Vinodh; Rangasamy, Sampathkumar
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

RNA解旋酶DDX6中罕见的从头错义变异会导致智力障碍和畸形特征，并导致P体缺陷和RNA失调

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-09-0144
OAAI
Balak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michele; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Veronique; Courel, Maite; Naymik, Marcus; Bachman, Kristine K.; Pfundt, Rolph; Rump, Patrick; ter Beest, Johanna; Wentzensen, Ingrid M.; Monaghan, Kristin G.; McWalter, Kirsty; Richholt, Ryan; Le Bechec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S.; Deleuze, Jean-Francois; Szelinger, Szabolcs; Dollfus, Helene; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amelie
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
NATURE COMMUNICATIONS
IF15.7
2019-02-1244
OAAI
Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter
CM-200819-4097863 Exploring genome-wide DNA methylation patterns in Aicardi syndrome
EPIGENOMICS
IF2.6
2017-10-0210
PREAI
Piras, Ignazio S.; Mills, Gabrielle; Llaci, Lorida; Naymik, Marcus; Ramsey, Keri; Belnap, Newell; Balak, Chris D.; Jepsen, Wayne M.; Szelinger, Szabolcs; Siniard, Ashley L.; Lewis, Candace R.; LaFleur, Madison; Richholt, Ryan F.; De Both, Matt D.; Avela, Kristiina; Rangasamy, Sampathkumar; Craig, David W.; Narayanan, Vinodh; Jarvela, Irma; Huentelman, Matthew J.; Schrauwen, Isabelle
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
NEUROLOGY
IF8.5
2016-06-07153
OAAI
Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schuetz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Moller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nuernberg, Peter; Thiele, Holger; Kurlemann, Gerhard; Arnold, Georgianne L.; Bhambhani, Vikas; Bartholdi, Deborah; Pedurupillay, Christeen Ramane J.; Misceo, Doriana; Frengen, Eirik; Stromme, Petter; Dlugos, Dennis J.; Doherty, Emily S.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A.; Hoffer, Mariette J. V.; Goldstein, Amy; Rajan, Deepa S.; Narayanan, Vinodh; Ramsey, Keri; Belnap, Newell; Schrauwen, Isabelle; Richholt, Ryan; Koeleman, Bobby P. C.; Sa, Joaquim; Mendonca, Carla; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Hardies, Katia; De Jonghe, Peter; De Meirleir, Linda; Milh, Mathieu; Badens, Catherine; Lebrun, Marine; Busa, Tiffany; Francannet, Christine; Piton, Amelie; Riesch, Erik; Biskup, Saskia; Vogt, Heinrich; Dorn, Thomas; Helbig, Ingo; Michaud, Jacques L.; Laube, Bodo; Syrbe, Steffen

研究方向

暂未获取到该数据
V
Vinodh Narayanan
H 指数:37论文数:158被引数:5,282
I
Isabelle Schrauwen
H 指数:34论文数:172被引数:3,695
S
Szabolcs Szelinger
H 指数:28论文数:112被引数:6,962
R
Ryan Richholt
H 指数:17论文数:49被引数:1,082
A
Ashley L. Siniard
H 指数:23论文数:77被引数:1,876
M
Matthew J. Huentelman
H 指数:74论文数:382被引数:3.7万
S
Sampathkumar Rangasamy
H 指数:26论文数:89被引数:2,894
D
David W. Craig
H 指数:78论文数:456被引数:5.2万
M
Marcus Naymik
H 指数:17论文数:88被引数:1,583
K
Keri Ramsey
H 指数:20论文数:63被引数:1,407