日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

在患有西弗林-希茨-魏斯综合征的个体中发现了一种DNA甲基化谱。

Karimi, Karim; Lichtenstein, Yael; Reilly, Jack; McConkey, Haley; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; Bouman, Arjan; Symonds, Joseph D; Ghoumid, Jamal; Smol, Thomas; Clarkson, Katie; Drazba, Katy; Louie, Raymond J; Miranda, Valancy; McCann, Cathleen; Motta, Jamie; Lancaster, Emily; Sallevelt, Suzanne; Sidlow, Richard; Morrison, Jennifer; Hannibal, Mark; O'Shea, Jessica; Marin, Victor; Prasad, Chitra; Patel, Chirag; Raskin, Salmo; Maria-Noelia, Seco Moro; Diaz de Bustamante, Aranzazú; Marom, Daphna; Barkan, Tali; Keren, Boris; Poirsier, Celine; Cohen, Lior; Colin, Estelle; Gorman, Kathleen; Gallant, Emily; Menke, Leonie A; Valenzuela Palafoll, Irene; Hauser, Natalie; Wentzensen, Ingrid M; Rankin, Julia; Turnpenny, Peter D; Campeau, Philippe M; Balci, Tugce B; Tedder, Matthew L; Sadikovic, Bekim; Weiss, Karin

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.

利用chanarin-dorfman综合征患者的成纤维细胞探索疾病机制和新的治疗途径

Angel Mor, Kleinberg Yuval, Newaz Tanmoy, Li Victoria, Zaid Rinat, Oved Keren, Dorot Orly, Pichinuk Edward, Avitan-Hersh Emily, Saada Ann, Weiss Karin, Zaremberg Vanina, Tal Galit, Zalckvar Einat

PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature

PDSS1基因突变相关激素抵抗性肾病综合征:病例报告及文献综述

Habib, Clair; Tal, Galit; Weiss, Karin; Magen, Daniella; Pollack, Shirley

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

National Rapid Genome Sequencing in Neonatal Intensive Care

新生儿重症监护中的国家快速基因组测序

Marom, Daphna; Mory, Adi; Reytan-Miron, Sivan; Amir, Yam; Kurolap, Alina; Cohen, Julia Grinshpun; Morhi, Yocheved; Smolkin, Tatiana; Cohen, Lior; Zangen, Shmuel; Shalata, Adel; Riskin, Arieh; Peleg, Amir; Lavie-Nevo, Karen; Mandel, Dror; Chervinsky, Elana; Fisch, Clari Felszer; Fleisher Sheffer, Vered; Falik-Zaccai, Tzipora C; Rips, Jonathan; Shlomai, Noa Ofek; Friedman, Smadar Eventov; Shporen, Calanit Hershkovich; Ben-Yehoshua, Sagie Josefsberg; Simmonds, Aryeh; Yaacobi, Racheli Goldfarb; Bauer-Rusek, Sofia; Omari, Hussam; Weiss, Karin; Hochwald, Ori; Koifman, Arie; Globus, Omer; Batzir, Nurit Assia; Yaron, Naveh; Segel, Reeval; Morag, Iris; Reish, Orit; Eliyahu, Aviva; Leibovitch, Leah; Schwartz, Marina Eskin; Abramsky, Ramy; Hochberg, Amit; Oron, Anat; Banne, Ehud; Portnov, Igor; Samra, Nadra Nasser; Singer, Amihood; Baris Feldman, Hagit

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

作者更正:SART3基因变异会导致剪接体病,其特征是睾丸发育不全和神经元缺陷。

Ayers, Katie L; Eggers, Stefanie; Rollo, Ben N; Smith, Katherine R; Davidson, Nadia M; Siddall, Nicole A; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jørgensen, Anne; Schittenhelm, Ralf B; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J; Kwan, Patrick; Koopman, Peter; Hime, Gary R; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

ESAM紧密连接基因的双等位基因变异会导致一种与胎儿颅内出血相关的神经发育障碍。

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

利用社区数据驱动的方法识别致病性创始人变异,用于泛种族携带者筛查。

Einhorn, Yaron; Einhorn, Moshe; Kurolap, Alina; Steinberg, Dror; Mory, Adi; Bazak, Lily; Paperna, Tamar; Grinshpun-Cohen, Julia; Basel-Salmon, Lina; Weiss, Karin; Singer, Amihood; Yaron, Yuval; Baris Feldman, Hagit

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

公共资助的针对神经发育障碍门诊患者的外显子组测序显示,意外发现率很高,这些发现会影响医疗管理。

Nakhleh Francis, Yara; Hershkovitz, Tova; Ekhilevitch, Nina; Habib, Clair; Ravid, Sarit; Tal, Galit; Schertz, Mitchell; Mory, Adi; Zinger, Amihood; Baris Feldman, Hagit; Zaid, Rinat; Paperna, Tamar; Weiss, Karin