Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Lutke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert

Poly (A)-specific ribonuclease (PARN): More than just mRNA stock clearing

LIFE SCIENCES

IF5.1

2021-11-0110

OAAI

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

PLOS GENETICS

IF3.7

2021-06-184

OAAI

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-06-0120

OAAI

Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Luetke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases

CARDIOVASCULAR RESEARCH

IF13.3

2020-01-2411

OAAI

Hayashi, Kenshi; Teramoto, Ryota; Nomura, Akihiro; Asano, Yoshihiro; Beerens, Manu; Kurata, Yasutaka; Kobayashi, Isao; Fujino, Noboru; Furusho, Hiroshi; Sakata, Kenji; Onoue, Kenji; Chiang, David Y.; Kiviniemi, Tuomas O.; Buys, Eva; Sips, Patrick; Burch, Micah L.; Zhao, Yanbin; Kelly, Amy E.; Namura, Masanobu; Kita, Yoshihito; Tsuchiya, Taketsugu; Kaku, Bunji; Oe, Kotaro; Takeda, Yuko; Konno, Tetsuo; Inoue, Masaru; Fujita, Takashi; Kato, Takeshi; Funada, Akira; Tada, Hayato; Hodatsu, Akihiko; Nakanishi, Chiaki; Sakamoto, Yuichiro; Tsuda, Toyonobu; Nagata, Yoji; Tanaka, Yoshihiro; Okada, Hirofumi; Usuda, Keisuke; Cui, Shihe; Saito, Yoshihiko; MacRae, Calum A.; Takashima, Seiji; Yamagishi, Masakazu; Kawashiri, Masa-Aki; Takamura, Masayuki

Screening drugs for myocardial disease in vivo with zebrafish: an expert update

EXPERT OPINION ON DRUG DISCOVERY

IF4.9

2019-03-0614

OAAI

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

HUMAN MOLECULAR GENETICS

IF3.2

2019-01-1629

OAAI

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

斑马鱼I型胶原蛋白突变体忠实地概括了人类I型胶原病