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

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

PLD1基因的双等位基因功能缺失变异会导致先天性右侧心脏瓣膜缺陷和新生儿心肌病。

Lahrouchi, Najim; Postma, Alex V; Salazar, Christian M; De Laughter, Daniel M; Tjong, Fleur; Piherová, Lenka; Bowling, Forrest Z; Zimmerman, Dominic; Lodder, Elisabeth M; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Škorić-Milosavljević, Doris; Stránecký, Viktor; Tomek, Viktor; de Knijff, Peter; de Leeuw, Rick; Robinson, Jamille Y; Burn, Sabrina C; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M; Wolf, Barry; Kim, Katherine H; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denommé-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C; Ten Harkel, Arend DJ; Manten, Gwendolyn Tr; Dutman, Annemiek C; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs We; Herkert, Johanna C; Brown, H Alex; Elpeleg, Orly; van den Hoff, Maurice Jb; Mulder, Barbara; Airola, Michael V; Kmoch, Stanislav; Barnett, Joey V; Clur, Sally-Ann; Frohman, Michael A; Bezzina, Connie R

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

ADAMTS19 缺失导致进行性非综合征性心脏瓣膜疾病

Florian Wünnemann #, Asaf Ta-Shma #, Christoph Preuss, Severine Leclerc, Patrick Piet van Vliet, Andrea Oneglia, Maryse Thibeault, Emily Nordquist, Joy Lincoln, Franka Scharfenberg, Christoph Becker-Pauly, Philipp Hofmann, Kirstin Hoff, Enrique Audain, Hans-Heiner Kramer, Wojciech Makalowski, Amiram

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

CFAP45 缺乏会破坏轴丝腺嘌呤核苷酸稳态模块,导致位置异常和弱精子症

Gerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shir

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

MNS1 纯合功能丧失突变可导致侧性缺陷,并可能导致男性不育

Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, O

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

TMEM260 突变导致儿童神经发育、心脏和肾脏综合征

Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

由KAE1/TCS3 (OSGEP) 基因突变引起的tRNA N6-腺苷苏氨酰氨甲酰转移酶缺陷,表现为神经退行性变和肾小管病变

Edvardson, Simon; Prunetti, Laurence; Arraf, Aiman; Haas, Drago; Bacusmo, Jo Marie; Hu, Jennifer F; Ta-Shma, Asas; Dedon, Peter C; de Crécy-Lagard, Valérie; Elpeleg, Orly

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

COX4I1 基因突变与身材矮小、体重增长缓慢和染色体断裂增多有关,类似范康尼贫血症

Bassam Abu-Libdeh, Liza Douiev, Sarah Amro, Maher Shahrour, Asaf Ta-Shma, Chaya Miller, Orly Elpeleg, Ann Saada

A human laterality disorder associated with a homozygous WDR16 deletion

一种与WDR16基因纯合缺失相关的人类侧向性障碍

Ta-Shma, Asaf; Perles, Zeev; Yaacov, Barak; Werner, Marion; Frumkin, Ayala; Rein, Azaria J J T; Elpeleg, Orly

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

CD59 缺乏与慢性溶血和儿童复发性免疫介导性多发性神经病有关

Yoram Nevo, Bruria Ben-Zeev, Adi Tabib, Rachel Straussberg, Yair Anikster, Zamir Shorer, Aviva Fattal-Valevski, Asaf Ta-Shma, Sharon Aharoni, Malcolm Rabie, Shamir Zenvirt, Hanoch Goldshmidt, Yakov Fellig, Avraham Shaag, Dror Mevorach, Orly Elpeleg

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia

CCDC65 基因突变导致原发性纤毛运动障碍,其超微结构正常,但纤毛运动亢进。

Horani, Amjad; Brody, Steven L; Ferkol, Thomas W; Shoseyov, David; Wasserman, Mollie G; Ta-shma, Asaf; Wilson, Kate S; Bayly, Philip V; Amirav, Israel; Cohen-Cymberknoh, Malena; Dutcher, Susan K; Elpeleg, Orly; Kerem, Eitan