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Monica Wojcik
Monica Wojcik
Unknown affiliation
Verified email at broadinstitute.org
Title
Cited by
Cited by
Year
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
4022017
Monogenic variants in dystonia: an exome-wide sequencing study
M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ...
The Lancet Neurology 19 (11), 908-918, 2020
1562020
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
CS Gubbels, GE VanNoy, JA Madden, D Copenheaver, S Yang, ...
Genetics in Medicine 22 (4), 736-744, 2020
922020
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
MH Wojcik, TS Schwartz, I Yamin, HL Edward, CA Genetti, MC Towne, ...
Genetics in Medicine 20 (11), 1396-1404, 2018
702018
Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging
E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ...
The American Journal of Human Genetics 105 (3), 493-508, 2019
682019
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
YS Fraiman, MH Wojcik
Pediatric Research 89 (2), 295-300, 2021
662021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
MH Wojcik, T Zhang, O Ceyhan-Birsoy, CA Genetti, MS Lebo, TW Yu, ...
Genetics in Medicine 23 (7), 1372-1375, 2021
642021
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
K Schmitz-Abe, Q Li, SM Rosen, N Nori, JA Madden, CA Genetti, ...
European Journal of Human Genetics 27 (9), 1398-1405, 2019
642019
Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia
C Guissart, X Latypova, P Rollier, TN Khan, H Stamberger, K McWalter, ...
The American Journal of Human Genetics 102 (5), 744-759, 2018
612018
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ...
Genetics in Medicine 21 (12), 2723-2733, 2019
602019
Infant mortality: the contribution of genetic disorders
MH Wojcik, TS Schwartz, KE Thiele, H Paterson, R Stadelmaier, ...
Journal of Perinatology 39 (12), 1611-1619, 2019
542019
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ...
Science advances 6 (49), eabc9207, 2020
522020
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
M Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ...
European Journal of Human Genetics 27 (5), 747-759, 2019
482019
Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa
MH Wojcik, E Meenaghan, EA Lawson, M Misra, A Klibanski, KK Miller
Bone 46 (3), 796-800, 2010
482010
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
472022
A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability
VM Pravata, M Gundogdu, SG Bartual, AT Ferenbach, M Stavridis, ...
FEBS letters 594 (4), 717-727, 2020
472020
De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder
LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ...
The American Journal of Human Genetics 105 (2), 403-412, 2019
412019
POLRMT mutations impair mitochondrial transcription causing neurological disease
M Oláhová, B Peter, Z Szilagyi, H Diaz-Maldonado, M Singh, ...
Nature communications 12 (1), 1135, 2021
312021
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
M Yakoreva, T Kahre, R Žordania, K Reinson, R Teek, V Tillmann, A Peet, ...
European Journal of Human Genetics 27 (11), 1649-1658, 2019
302019
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr, H Sticht, ...
Genetics in Medicine 23 (8), 1474-1483, 2021
292021
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