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MJ Nowaczyk
MJ Nowaczyk
Dept. of Pathology and Molecular Medicine, McMaster University
Verified email at hhsc.ca
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Cited by
Year
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
ID Krantz, J McCallum, C DeScipio, M Kaur, LA Gillis, D Yaeger, ...
Nature genetics 36 (6), 631-635, 2004
7862004
Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ...
The American Journal of Human Genetics 84 (6), 780-791, 2009
3922009
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2532003
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
2522012
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ...
The American Journal of Human Genetics 79 (5), 965-972, 2006
2312006
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome
DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ...
Journal of medical genetics 45 (11), 710-720, 2008
2272008
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
1682012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
1682012
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
S Zeesman, MJM Nowaczyk, I Teshima, W Roberts, JO Cardy, J Brian, ...
American Journal of Medical Genetics Part A 140 (5), 509-514, 2006
1632006
Smith–Lemli–Opitz syndrome: phenotype, natural history, and epidemiology
MJM Nowaczyk, MB Irons
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012
1582012
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11. 2 and the syntenic region of the mouse
W Bi, J Yan, P Stankiewicz, SS Park, K Walz, CF Boerkoel, L Potocki, ...
Genome research 12 (5), 713-728, 2002
1332002
The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
MJM Nowaczyk, JS Waye
Clinical genetics 59 (6), 375-386, 2001
117*2001
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ...
The American Journal of Human Genetics 96 (3), 462-473, 2015
1142015
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ...
European Journal of Human Genetics 23 (3), 292-301, 2015
1052015
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
L Pizzo, M Jensen, A Polyak, JA Rosenfeld, K Mannik, A Krishnan, ...
Genetics in Medicine 21 (4), 816-825, 2019
1002019
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24. 3 copy-number variant
A Dauber, C Golzio, C Guenot, FM Jodelka, M Kibaek, S Kjaergaard, ...
The American Journal of Human Genetics 93 (5), 798-811, 2013
912013
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
JT Bennett, TY Tan, D Alcantara, M Tétrault, AE Timms, D Jensen, ...
The American Journal of Human Genetics 98 (3), 579-587, 2016
742016
DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?
MJM Nowaczyk, JS Waye, JD Douketis
American journal of medical genetics Part A 140 (19), 2057-2062, 2006
722006
Deletion 9q34. 3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
SA Yatsenko, SW Cheung, DA Scott, MJM Nowaczyk, M Tarnopolsky, ...
Journal of medical genetics 42 (4), 328-335, 2005
702005
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in …
M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ...
Human mutation 41 (1), 299-315, 2020
672020
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