van Karnebeek, Clara D. M.; Tarailo-Graovac, Maja; Leen, Rene; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V.; Pena, Izabella A.; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L.; Drogemoller, Britt I.; Grootemaat, Anita E.; van der Wel, Nicole N.; Dobritzsch, Doreen; Roseboom, Winfried; Schomakers, Bauke V.; Jaspers, Yorrick R. J.; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R.; van der Lee, Robin; Ross, Colin J.; Kochan, Jakub; McIntyre, Rebecca L.; van Klinken, Jan B.; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michel A.; Riva, Daria; Garavaglia, Barbara; Moeschler, John B.; Filiano, James J.; Ekker, Marc; Berman, Jason N.; Dyment, David; Vaz, Frederic M.; Wassermann, Wyeth W.; Houtkooper, Riekelt H.; van Kuilenburg, Andre B. P.

Single variant, yet double trouble: TSC and KBG syndrome because of a large de novo inversion

LIFE SCIENCE ALLIANCE

IF2.9

2024-01-220

OAAI

Mitogen-induced defective mitosis transforms neural progenitor cells

NEURO-ONCOLOGY

IF13.4

2023-04-260

Genome sequencing of C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements

GENOME RESEARCH

IF5.5

2022-12-055

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-07-0114

OAAI

Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M.

Rare disorders have many faces: in silico characterization of rare disorder spectrum

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-02-2212

OAAI

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease

HUMAN GENOMICS

IF4.3

2021-12-144

OAAI

Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans

BMC GENOMICS

IF3.7

2021-11-133

OAAI

Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing

SCIENTIFIC REPORTS

IF3.9

2021-09-147

OAAI

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (vol 144, pg 411, 2020)

BRAIN

IF11.7

2021-05-150

OAAI

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

CLDN11的De novo止损变异导致低髓性脑白质营养不良

BRAIN

IF11.7

2020-12-1215

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-09-0145

OAAI

van Karnebeek, Clara D. M.; Ramos, Ruben J.; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G.; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y.; van der Lee, Robin; Drogemoller, Britt, I; Koster, Janet; Rousseau, Justine; Campeau, Philippe M.; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A. J.; Willemsen, Michel A. A. P.; Jans, Judith J.; Ross, Colin J.; Wintjes, Liesbeth T.; Rodenburg, Richard J.; Huigen, Marleen C. D. G.; Jia, Zhengping; Waterham, Hans R.; Wasserman, Wyeth W.; Wanders, Ronald J. A.; Verhoeven-Duif, Nanda M.; Zaki, Maha S.; Wevers, Ron A.

Atypical cerebral palsy: genomics analysis enables precision medicine

GENETICS IN MEDICINE

IF6.2

2019-07-0139

OAAI

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

GLS中短串联重复序列扩增引起的谷氨酰胺酶缺乏

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2019-04-1162

OAAI

van Kuilenburg, Andre B. P.; Tarailo-Graovac, Maja; Richmond, Phillip A.; Drogemoller, Britt I.; Pouladi, Mahmoud A.; Leen, Rene; Brand-Arzamendi, Koroboshka; Dobritzsch, Doreen; Dolzhenko, Egor; Eberle, Michael A.; Hayward, Bruce; Jones, Meaghan J.; Karbassi, Farhad; Kobor, Michael S.; Koster, Janet; Kumari, Daman; Li, Meng; MacIsaac, Julia; McDonald, Cassandra; Meijer, Judith; Nguyen, Charlotte; Rajan-Babu, Indhu-Shree; Scherer, Stephen W.; Sim, Bernice; Trost, Brett; Tseng, Laura A.; Turkenburg, Marjolein; van Vugt, Joke J. F. A.; Veldink, Jan H.; Walia, Jagdeep S.; Wang, Youdong; van Weeghel, Michel; Wright, Galen E. B.; Xu, Xiaohong; Yuen, Ryan K. C.; Zhang, Jinqiu; Ross, Colin J.; Wasserman, Wyeth W.; Geraghty, Michael T.; Santra, Saikat; Wanders, Ronald J. A.; Wen, Xiao-Yan; Waterham, Hans R.; Usdin, Karen; van Karnebeek, Clara D. M.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

BRAIN

IF11.7

2019-01-2160

OAAI

Johnstone, Devon L.; Al-Shekaili, Hilal H.; Tarailo-Graovac, Maja; Wolf, Nicole I.; Ivy, Autumn S.; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo W. T.; Kernohan, Kristin D.; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A.; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A.; Olson, Heather; Sigurdardottir, Laufey Yr.; Arnold, Georgianne L.; Gerkes, Erica H.; Boon, M.; Heiner-Fokkema, M. Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A.; Kamsteeg, Erik-jan; Drogemoller, Britt; Ross, Colin J.; Majewski, Jacek; Cho, Megan T.; Begtrup, Amber; Wasserman, Wyeth W.; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M.; Wevers, Ron A.; van Faassen, Martijn; Kema, Ido P.; Lepage, Nathalie; Lines, Matthew A.; Dyment, David A.; Wanders, Ronald J. A.; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M.; Friedman, Jan M.; Pena, Izabella A.; van Karnebeek, Clara D. M.

Maja Tarailo-Graovac

个人简介

教育背景

工作经历

荣誉奖项

研究方向