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I

Isabelle Schrauwen

national institutes of health
H指数:34
被引数:3,690

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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2相关Lessel-Kreienkamp神经发育综合征的临床与分子谱

Genome Medicine
IF11.2
2026-08-220
OA
Debora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp
Bi-allelic missense variants in human GPN2 result in Perrault syndrome

人类GPN2基因的双等位错义变异导致佩罗综合征

American Journal of Human Genetics
IF8.1
2026-07-010
OAAI
Smith, Thomas B.; Faridi, Rabia; Demain, Leigh A. M.; Inagaki, Sayaka; Ishibashi, Yasuko; Thomas, Huw B.; Belyantseva, Inna A.; Rea, Alessandro; Lai, King Lam; Maqbool, Arshia; Rauf, Bushra; Usmani, Muhammad Asad; Schaffer, Alejandro A.; Morell, Robert J.; Green, Andrew; Ghedia, Sondhya; Wilding, Mathilda; Hay, Robin; Sokolova, Yuliya; P. Riordan, Gavin; Schrauwen, Isabelle; Liaqat, Khurram; Riazuddin, Saima; Ahmed, Zubair M.; Chien, Wade W.; He, Langping; McGovern, Amanda; Byers, Helen; Beaman, Glenda M.; Ahmad, Wasim; Leal, Suzanne M.; Taylor, Robert W.; Riazuddin, Sheikh; O'Keefe, Raymond T.; B. Friedman, Thomas; G. Newman, William
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome

杂合子CECR2变异支持一种具有与猫眼综合征重叠特征的独特神经发育综合征

Human Genetics and Genomics Advances
IF3.6
2026-04-090
OAAI
Anushree Acharya; Irma Järvelä; Andrea Hernandez; Yasmin Rajendran; Thashi Bharadwaj; Dana H. Goodloe; Susan M. Hiatt; Jennifer Morrison; Patricia G. Wheeler; Jesse M. Hunter; Rachel Supinger; Scott E. Hickey; Andrea K. Petersen; Kari Magnussen; Marcello Scala; Pasquale Striano; Federico Zara; Juha Leppälä; Suzanne M. Leal; Isabelle Schrauwen
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics
IF0
2025-10-220
PRE
Laura Planas-Serra; Mar Rodríguez-Ruiz; Eric Nathaniel Anderson; Agustí Rodríguez-Palmero; Valentina Vélez-Santamaria; Agatha Schlüter; Edgard Verdura; Gorka Gereñu; Andrés Jiménez-Zúñiga; Alejandro Iñañez; Josefina Casas; Joan Josep Bech; Carolina De La Torre; Juan José Martínez; Montserrat Ruiz; Stéphane Fourcade; Maria Iascone; Romano Tenconi; Kolja Meier; Susann Diegmann; Reagan H.C. Lee; Bakht Beland; Asif Mir; Hossein Darvish; Wendy Chung; Ehsan Ghayoor Karimiani; Suzanne M. Leal; Isabelle Schrauwen; Susanna Öhman; Irma Järvelä; Johanna Granvik; Karit Reinson; Elvira Kurvinen; Katrin Õunap; Annemarie Schwan; Konrad Platzer; Tuğba Kalayci; Shahrashoub Sharifi; G. Christoph Korenke; Henry Houlden; Reza Maroofian; Adolfo López de Munaín; Carlos Casasnovas; Udai Bhan Pandey; Aurora Pujol
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

ClinGen对听力损失相关基因的再注释表明基因-疾病有效性随时间发生显著变化

Genetics in Medicine
IF6.2
2025-09-070
PREAI
Kezang C. Tshering; Marina T. DiStefano; Andrea M. Oza; Pamela Ajuyah; Ryan Webb; Enyonam Edoh; Ellie Broeren; Julie Ratliff; Vanessa Gitau; Kelley Paris; Amal Aburyyan; John Alexander; Victoria Albano; Donglin Bai; Kevin T.A. Booth; Paula I. Buonfiglio; Cherine Charfeddine; Viviana Dalamón; Ignacio del Castillo; Miguel Angel Moreno-Pelayo; Hatice Duzkale; Ben Dorshorst; Rabia Faridi; Margaret Kenna; Morag A. Lewis; Minjie Luo; Yu Lu; Rahma Mkaouar; Tatsuo Matsunaga; Kiyomitsu Nara; Arti Pandya; Shelby Redfield; Isabelle Roux; Lisa A. Schimmenti; Isabelle Schrauwen; Sherin Shaaban; Jun Shen; Barbara Vona; Richard J. Smith; Heidi L. Rehm; Hela Azaiez; Ahmad N. Abou Tayoun; Sami S. Amr
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss

通过全外显子测序在存在近亲婚配且有多例非综合征性听力损失病例的加纳家族中鉴定出的双等位基因MARVELD2变异。

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
2025-04-030
OA
Aboagye, Elvis Twumasi; Adadey, Samuel Mawuli; Rios, Leonardo Alves de Souza; Esoh, Kevin K.; Wonkam-Tingang, Edmond; Xhakaza, Lettilia; De Kock, Carmen; Schrauwen, Isabelle; Amenga-Etego, Lucas; Lang, Dirk; Awandare, Gordon A.; Leal, Suzanne M.; Mowla, Shaheen; Wonkam, Ambroise
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
OAAI
Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
OAAI
Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-01-011
OAAI
Yalcouye, Abdoulaye; Schrauwen, Isabelle; Traore, Oumou; Bamba, Salia; Aboagye, Elvis Twumasi; Acharya, Anushree; Bharadwaj, Thashi; Latanich, Rachel; Esoh, Kevin; Fortes-Lima, Cesar A.; de Kock, Carmen; Jonas, Mario; Maiga, Alassane dit Baneye; Cisse, Cheick A. K.; Sangare, Moussa A.; Guinto, Cheick O.; Landoure, Guida; Leal, Suzanne M.; Wonkam, Ambroise
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

神经发育障碍中Rett综合征样 (rtt-l) 表型趋同的遗传和蛋白质网络基础

CELLS
IF5.2
2023-05-213
OAAI
Frankel, Eric; Podder, Avijit; Sharifi, Megan; Pillai, Roshan; Belnap, Newell; Ramsey, Keri; Dodson, Julius; Venugopal, Pooja; Brzezinski, Molly; Llaci, Lorida; Gerald, Brittany; Mills, Gabrielle; Sanchez-Castillo, Meredith; Balak, Chris D.; Szelinger, Szabolcs; Jepsen, Wayne M.; Siniard, Ashley L.; Richholt, Ryan; Naymik, Marcus; Schrauwen, Isabelle; Craig, David W.; Piras, Ignazio S.; Huentelman, Matthew J.; Schork, Nicholas J.; Narayanan, Vinodh; Rangasamy, Sampathkumar

研究方向

暂未获取到该数据
S
Suzanne M. Leal
H 指数:74论文数:383被引数:3.0万
A
Anushree Acharya
H 指数:20论文数:75被引数:1,233
M
Matthew J. Huentelman
H 指数:74论文数:382被引数:3.7万
G
Guy Van Camp
H 指数:82论文数:709被引数:2.5万
T
Thashi Bharadwaj
H 指数:10论文数:39被引数:266
W
Wasim Ahmad
H 指数:46论文数:357被引数:8,999
E
Erik Fransén
H 指数:61论文数:431被引数:1.2万
A
Ashley L. Siniard
H 指数:23论文数:77被引数:1,875
V
Vinodh Narayanan
H 指数:37论文数:158被引数:5,276
I
Irma Järvelä
H 指数:52论文数:229被引数:9,096