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

Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency

识别更多严重新生儿GABA转氨酶缺乏症病例

Alammary, Deima; Low, Tisiana; Srinivasan, Ganesh; Dery, Marie-Claude; Almutadares, Mahmoud; Marin, Samantha; Rafay, Mubeen F; Rozovsky, Katya; Frosk, Patrick

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

一例因11p15.5和16p13.3之间不平衡易位导致ATR-16综合征成人患者认知功能下降的病例报告

Krutish, Angela; Kukurudz-Gorowski, Rebekah; Borlot, Felippe; Frosk, Patrick; Rockman-Greenberg, Cheryl; Mhanni, Aizeddin A

Infant With a Severe Form of GLRX5-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy

一名患有严重GLRX5相关非典型高甘氨酸血症的婴儿,在尸检中表现出新的心脏和神经系统疾病症状

Ferreira, Elizabeth O; Del Bigio, Marc R; Morin, Jason; Frosk, Patrick

Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome

遗传性转甲状腺素蛋白淀粉样变性伴腕管综合征

Zaki, Nicole; Miller, Nicholas J; Frosk, Patrick; Sharma, Aditya

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

人类替代性NF-κB通路缺陷中针对I型干扰素的自身抗体

Tom Le Voyer ,Audrey V Parent # ,Xian Liu # ,Axel Cederholm # ,Adrian Gervais ,Jérémie Rosain ,Tina Nguyen ,Malena Perez Lorenzo ,Elze Rackaityte ,Darawan Rinchai ,Peng Zhang ,Lucy Bizien ,Gonca Hancioglu ,Pascale Ghillani-Dalbin ,Jean-Luc Charuel ,Quentin Philippot ,Mame Sokhna Gueye ,Majistor Raj Luxman Maglorius Renkilaraj ,Masato Ogishi ,Camille Soudée ,Mélanie Migaud ,Flore Rozenberg ,Mana Momenilandi ,Quentin Riller ,Luisa Imberti ,Ottavia M Delmonte ,Gabriele Müller ,Baerbel Keller ,Julio Orrego ,William Alexander Franco Gallego ,Tamar Rubin ,Melike Emiroglu ,Nima Parvaneh ,Daniel Eriksson ,Maribel Aranda-Guillen ,David I Berrios ,Linda Vong ,Constance H Katelaris ,Peter Mustillo ,Johannes Raedler ,Jonathan Bohlen ,Jale Bengi Celik ,Camila Astudillo ,Sarah Winter ,Aurélien Guffroy ,Joseph L DeRisi ,David Yu ,Corey Miller ,Yi Feng ,Audrey Guichard ,Vivien Béziat ,Jacinta Bustamante ,Qiang Pan-Hammarström ,Yu Zhang ,Lindsey B Rosen ,Steve M Holland ,Marita Bosticardo ,Heather Kenney ,Riccardo Castagnoli ,Charlotte A Slade ,Kaan Boztuğ ,Nizar Mahlaoui ,Sylvain Latour ,Roshini S Abraham ,Vassilios Lougaris ,Fabian Hauck ,Anna Sediva ,Faranaz Atschekzei ,Georgios Sogkas ,M Cecilia Poli ,Mary A Slatter ,Boaz Palterer ,Michael D Keller ,Alberto Pinzon-Charry ,Anna Sullivan ,Luke Droney ,Daniel Suan ,Melanie Wong ,Alisa Kane ,Hannah Hu ,Cindy Ma ,Hana Grombiříková ,Peter Ciznar ,Ilan Dalal ,Nathalie Aladjidi ,Miguel Hie ,Estibaliz Lazaro ,Jose Franco ,Sevgi Keles ,Marion Malphettes ,Marlene Pasquet ,Maria Elena Maccari ,Andrea Meinhardt ,Aydan Ikinciogullari ,Mohammad Shahrooei ,Fatih Celmeli ,Patrick Frosk ,Christopher C Goodnow ,Paul E Gray ,Alexandre Belot ,Hye Sun Kuehn ,Sergio D Rosenzweig ,Makoto Miyara ,Francesco Licciardi ,Amélie Servettaz ,Vincent Barlogis ,Guillaume Le Guenno ,Vera-Maria Herrmann ,Taco Kuijpers ,Grégoire Ducoux ,Françoise Sarrot-Reynauld ,Catharina Schuetz ,Charlotte Cunningham-Rundles ,Frédéric Rieux-Laucat ,Stuart G Tangye ,Cristina Sobacchi ,Rainer Doffinger ,Klaus Warnatz ,Bodo Grimbacher ,Claire Fieschi ,Laureline Berteloot ,Vanessa L Bryant ,Sophie Trouillet Assant ,Helen Su ,Benedicte Neven ,Laurent Abel ,Qian Zhang ,Bertrand Boisson ,Aurélie Cobat ,Emmanuelle Jouanguy ,Olle Kampe ,Paul Bastard ,Chaim M Roifman ,Nils Landegren ,Luigi D Notarangelo ,Mark S Anderson ,Jean-Laurent Casanova ,Anne Puel

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

人类 ZNFX1 缺乏症可导致多系统炎症和病毒感染易感性

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klämbt, Verena; Soliman, Neveen A; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Häffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Buckley, Michael F; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias; Pachlopnik Schmid, Jana

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

进一步阐明与BCAP31相关的智力障碍:描述17个携带功能缺失和错义变异的新家族

Whalen, Sandra; Shaw, Marie; Mignot, Cyril; Héron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoëlle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renée; Hartley, Jessica N; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

加拿大罕见病模型与机制(RDMM)网络:将研究不足的基因与模式生物联系起来

Boycott, Kym M; Campeau, Philippe M; Howley, Heather E; Pavlidis, Paul; Rogic, Sanja; Oriel, Christine; Berman, Jason N; Hamilton, Robert M; Hicks, Geoffrey G; Lipshitz, Howard D; Masson, Jean-Yves; Shoubridge, Eric A; Junker, Anne; Leroux, Michel R; McMaster, Christopher R; Michaud, Jaques L; Turvey, Stuart E; Dyment, David; Innes, A Micheil; van Karnebeek, Clara D; Lehman, Anna; Cohn, Ronald D; MacDonald, Ian M; Rachubinski, Richard A; Frosk, Patrick; Vandersteen, Anthony; Wozniak, Richard W; Pena, Izabella A; Wen, Xiao-Yan; Lacaze-Masmonteil, Thierry; Rankin, Catharine; Hieter, Philip

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2

LEMD2基因隐性突变引起的一种独特型心律失常性心肌病的特征分析

Abdelfatah, Nelly; Chen, Ruping; Duff, Henry J; Seifer, Colette M; Buffo, Ilan; Huculak, Cathleen; Clarke, Stephanie; Clegg, Robin; Jassal, Davinder S; Gordon, Paul M K; Ober, Carole; Frosk, Patrick; Gerull, Brenda

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

CEP55 的截短突变可能是导致 MARCH 的原因,MARCH 是一种影响神经元有丝分裂的新型综合征

Patrick Frosk, Heleen H Arts, Julien Philippe, Carter S Gunn, Emma L Brown, Bernard Chodirker, Louise Simard, Jacek Majewski, Somayyeh Fahiminiya, Chad Russell, Yangfan P Liu; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,; Robert Hegele, Nicholas Katsanis, Conrad Goer