Arnaud P. J. Giese

university of colorado anschutz medical campus

H指数:15

被引数:1,129

个人简介

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教育背景

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Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

作者更正：CIB2钙离子和整合素结合蛋白的变异导致Usher综合征1J型和DFNB48非综合征性耳聋

Nature Genetics

IF0

2025-08-260

PRE

Saima Riazuddin; Inna A. Belyantseva; Arnaud P. J. Giese; Kwanghyuk Lee; Artur A. Indzhykulian; Sri Pratima Nandamuri; Rizwan Yousaf; Ghanshyam P. Sinha; Sue Lee; David Terrell; Rashmi S. Hegde; Rana A. Ali; Saima Anwar; Paula B. Andrade-Elizondo; Asli Sirmaci; Leslie V. Parise; Sulman Basit; Abdul Wali; Muhammad Ayub; Muhammad Ansar; Wasim Ahmad; Shaheen N. Khan; Javed Akram; Mustafa Tekin; Sheikh Riazuddin; Tiffany Cook; Elke K. Buschbeck; Gregory I. Frolenkov; Suzanne M. Leal; Thomas B. Friedman; Zubair M. Ahmed

CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture

DISEASE MODELS & MECHANISMS

IF3.3

2025-03-010

OAAI

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

ELIFE

IF0

2025-01-082

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

NATURE MEDICINE

IF50

2023-03-1626

OAAI

Greene, Daniel; Pirri, Daniela; Frudd, Karen; Sackey, Ege; Al-Owain, Mohammed; Giese, Arnaud P. J.; Ramzan, Khushnooda; Riaz, Sehar; Yamanaka, Itaru; Boeckx, Nele; Thys, Chantal; Gelb, Bruce D.; Brennan, Paul; Hartill, Verity; Harvengt, Julie; Kosho, Tomoki; Mansour, Sahar; Masuno, Mitsuo; Ohata, Takako; Stewart, Helen; Taibah, Khalid; Turner, Claire L. S.; Imtiaz, Faiqa; Riazuddin, Saima; Morisaki, Takayuki; Ostergaard, Pia; Loeys, Bart L.; Morisaki, Hiroko; Ahmed, Zubair M.; Birdsey, Graeme M.; Freson, Kathleen; Mumford, Andrew; Turro, Ernest

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

CIB2调节mTORC1信号，对自噬和视觉功能至关重要

NATURE COMMUNICATIONS

IF15.7

2021-06-2324

OAAI

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-06-169

OAAI

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-07-2419

OAAI

Frank, Daniel N.; Giese, Arnaud P. J.; Hafren, Lena; Bootpetch, Tori C.; Yarza, Talitha Karisse L.; Steritz, Matthew J.; Pedro, Melquiadesa; Labra, Patrick John; Daly, Kathleen A.; Tantoco, Ma Leah C.; Szeremeta, Wasyl; Reyes-Quintos, Maria Rina T.; Ahankoob, Niaz; Llanes, Erasmo Gonzalo d, V; Pine, Harold S.; Yousaf, Sairah; Ir, Diana; Einarsdottir, Elisabet; de la Cruz, Rhodieleen Anne R.; Lee, Nanette R.; Nonato, Rachelle Marie A.; Robertson, Charles E.; Ong, Kimberly Mae C.; Magno, Jose Pedrito M.; Chiong, Alessandra Nadine E.; Espiritu-Chiong, Ma Carmina; San Agustin, Maria Luz; Cruz, Teresa Luisa G.; Abes, Generoso T.; Bamshad, Michael J.; Cutiongco-de la Paz, Eva Maria; Kere, Juha; Nickerson, Deborah A.; Mohlke, Karen L.; Riazuddin, Saima; Chan, Abner; Mattila, Petri S.; Leal, Suzanne M.; Ryan, Allen F.; Ahmed, Zubair M.; Chonmaitree, Tasnee; Sale, Michele M.; Chiong, Charlotte M.; Santos-Cortez, Regie Lyn P.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2018-11-0536

OAAI

FUT2 Variants Confer Susceptibility to Familial Otitis Media

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-11-0135

OAAI

Santos-Cortez, Regie Lyn P.; Chiong, Charlotte M.; Frank, Daniel N.; Ryan, Allen F.; Giese, Arnaud P. J.; Roberts, Tori Bootpetch; Daly, Kathleen A.; Steritz, Matthew J.; Szeremeta, Wasyl; Pedro, Melquiadesa; Pine, Harold; Yarza, Talitha Karisse L.; Scholes, Melissa A.; Llanes, Erasmo Gonzalo D. V.; Yousaf, Saira; Friedman, Norman; Tantoco, Ma Leah C.; Wine, Todd M.; John Labra, Patrick; Benoit, Jeanne; Ruiz, Amanda G.; de la Cruz, Rhodieleen Anne R.; Greenlee, Christopher; Yousaf, Ayesha; Cardwell, Jonathan; Nonato, Rachelle Marie A.; Ray, Dylan; Ong, Kimberly Mae C.; So, Edward; Robertson, Charles E.; Dinwiddie, Jordyn; Lagrana-Villagracia, Sheryl Mae; Gubbels, Samuel P.; Shaikh, Rehan S.; Cass, Stephen P.; Einarsdottir, Elisabet; Lee, Nanette R.; Schwartz, David A.; Gloria-Cruz, Teresa Luisa I.; Bamshad, Michael J.; Yang, Ivana V.; Kere, Juha; Abes, Generoso T.; Prager, Jeremy D.; Riazuddin, Saima; Chan, Abner L.; Yoon, Patricia J.; Nickerson, Deborah A.; Cutiongco-de la Paz, Eva Maria; Streubel, Sven-Olrik; Reyes-Quintos, Maria Rina T.; Jenkins, Herman A.; Mattila, Petri; Chan, Kenny H.; Mohlke, Karen L.; Leal, Suzanne M.; Hafren, Lena; Chonmaitree, Tasnee; Sale, Michele M.; Ahmed, Zubair M.

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2018-03-1233

OAAI

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

NATURE COMMUNICATIONS

IF15.7

2017-06-29113

OAAI

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-07-1529

OAAI

Rare A2ML1 variants confer susceptibility to otitis media

NATURE GENETICS

IF31.8

2015-06-2934

OAAI

Santos-Cortez, Regie Lyn P.; Chiong, Charlotte M.; Reyes-Quintos, Ma Rina T.; Tantoco, Ma Leah C.; Wang, Xin; Acharya, Anushree; Abbe, Izoduwa; Giese, Arnaud P.; Smith, Joshua D.; Allen, E. Kaitlynn; Li, Biao; Maria Cutiongco-de la Paz, Eva; Garcia, Marieflor Cristy; Llanes, Erasmo Gonzalo D. V.; Labra, Patrick John; Gloria-Cruz, Teresa Luisa I.; Chan, Abner L.; Wang, Gao T.; Daly, Kathleen A.; Shendure, Jay; Bamshad, Michael J.; Nickerson, Deborah A.; Patel, Janak A.; Riazuddin, Saima; Sale, Michele M.; Chonmaitree, Tasnee; Ahmed, Zubair M.; Abes, Generoso T.; Leal, Suzanne M.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

HUMAN MOLECULAR GENETICS

IF3.2

2014-01-2947

OAAI

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

PLOS GENETICS

IF3.7

2013-09-0552

OAAI

Gipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear

DEVELOPMENT

IF3.6

2012-10-1560

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

NATURE GENETICS

IF31.8

2012-09-30224

OAAI

Riazuddin, Saima; Belyantseva, Inna A.; Giese, Arnaud P. J.; Lee, Kwanghyuk; Indzhykulian, Artur A.; Nandamuri, Pratima; Yousaf, Rizwan; Sinha, Ghanshyam P.; Lee, Sue; Terrell, David; Hegde, Rashmi S.; Ali, Rana A.; Anwar, Saima; Andrade-Elizondo, Paula B.; Sirmaci, Asli; Parise, Leslie V.; Basit, Sulman; Wali, Abdul; Ayub, Muhammad; Ansar, Muhammad; Ahmad, Wasim; Khan, Shaheen N.; Akram, Javed; Tekin, Mustafa; Riazuddin, Sheikh; Cook, Tiffany; Buschbeck, Elke K.; Frolenkov, Gregory I.; Leal, Suzanne M.; Friedman, Thomas B.; Ahmed, Zubair M.

Arnaud P. J. Giese

个人简介

教育背景

工作经历

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