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K

Katherina Walz

john p. hussman institute for human genomics and john t macdonald foundation department of human genetics
H指数:30
被引数:2,547

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Carboxypeptidase D deficiency causes hearing loss amenable to treatment

羧肽酶D缺乏导致可治疗的听力损失

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2025-12-010
OA
Ramzan, Memoona; Ortiz-Vega, Natalie; Zafeer, Mohammad Faraz; Lobato, Amanda G.; Atik, Tahir; Abad, Clemer; Vadgama, Nirmal; Duman, Duygu; Bozan, Nazim; Durmusalioglu, Enise Avci; Greene, Sunny; Guo, Shengru; Tokgoz-Yilmaz, Suna; Yekeduz, Merve Koc; Eminoglu, Fatma Tuba; Aydin, Mehmet; Seyhan, Serhat; Karakikes, Ioannis; Camarena, Vladimir; Robayo, Maria Camila; Canic, Tijana; Bademci, Guney; Wang, Gaofeng; Farooq, Amjad; Joiner, Mei-ling; Walz, Katherina; Eberl, Daniel F.; Nasir, Jamal; Zhai, R. Grace; Tekin, Mustafa
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2022-06-215
OAAI
Bademci, Guney; Lachgar-Ruiz, Maria; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Baylan, Muzeyyen Yildirim; Ingham, Neil J.; Chen, Jing; Sineni, Claire J.; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P.; Chioza, Barry A.; Walz, Katherina; Steel, Karen P.; Nasir, Jamal; Tekin, Mustafa
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

编码GRB2-related衔接蛋白的GRAP功能障碍与感音神经性听力损失有关

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2019-01-0413
OAAI
Li, Chong; Bademci, Guney; Subasioglu, Asli; Diaz-Horta, Oscar; Zhu, Yi; Liu, Jiaqi; Mitchell, Timothy Gavin; Abad, Clemer; Seyhan, Serhat; Duman, Duygu; Cengiz, Filiz Basak; Tokgoz-Yilmaz, Suna; Blanton, Susan H.; Farooq, Amjad; Walz, Katherina; Zhai, R. Grace; Tekin, Mustafa
FOXF2 is required for cochlear development in humans and mice
HUMAN MOLECULAR GENETICS
IF3.2
2018-12-1718
OAAI
Bademci, Guney; Abad, Clemer; Incesulu, Armagan; Elian, Fahed; Reyahi, Azadeh; Diaz-Horta, Oscar; Cengiz, Filiz B.; Sineni, Claire J.; Seyhan, Serhat; Atli, Emine Ikbal; Basmak, Hikmet; Demir, Selma; Nik, Ali Moussavi; Footz, Tim; Guo, Shengru; Duman, Duygu; Fitoz, Suat; Gurkan, Hakan; Blanton, Susan H.; Walter, Michael A.; Carlsson, Peter; Walz, Katherina; Tekin, Mustafa
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
HUMAN GENETICS
IF3.6
2018-07-0726
OAAI
Bademci, Guney; Abad, Clemer; Incesulu, Armagan; Rad, Abolfazl; Alper, Ozgul; Kolb, Susanne M.; Cengiz, Filiz B.; Diaz-Horta, Oscar; Silan, Fatma; Mihci, Ercan; Ocak, Emre; Najafi, Maryam; Maroofian, Reza; Yilmaz, Elanur; Nur, Banu G.; Duman, Duygu; Guo, Shengru; Sant, David W.; Wang, Gaofeng; Monje, Paula V.; Haaf, Thomas; Blanton, Susan H.; Vona, Barbara; Walz, Katherina; Tekin, Mustafa
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2016-05-0944
OAAI
Diaz-Horta, Oscar; Abad, Clemer; Sennaroglu, Levent; Foster, Joseph, II; DeSmidt, Alexandra; Bademci, Guney; Tokgoz-Yilmaz, Suna; Duman, Duygu; Cengiz, F. Basak; Grati, M'hamed; Fitoz, Suat; Liu, Xue Z.; Farooq, Amjad; Imtiaz, Faiqa; Currall, Benjamin B.; Morton, Cynthia Casson; Nishita, Michiru; Minami, Yasuhiro; Lu, Zhongmin; Walz, Katherina; Tekin, Mustafa

研究方向

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C
Clemer Abad
H 指数:15论文数:30被引数:712
M
Mustafa Tekin
H 指数:59论文数:435被引数:1.2万
G
Güney Bademci
H 指数:32论文数:155被引数:3,311
D
Duygu Duman
H 指数:26论文数:59被引数:2,729
J
Juan I. Young
H 指数:39论文数:225被引数:5,914
Weimin Bi 封面图
Weimin Bi
H 指数:58论文数:221被引数:1.3万
S
Shengru Guo
H 指数:20论文数:69被引数:1,869
F
Filiz Başak Cengiz
H 指数:25论文数:51被引数:1,670
O
Oscar Diaz‐Horta
H 指数:17论文数:34被引数:1,322
J
Jiong Yan
H 指数:21论文数:50被引数:2,090