MJ Nowaczyk
MJ Nowaczyk
Dept. of Pathology and Molecular Medicine, McMaster University
Verified email at hhsc.ca
TitleCited byYear
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
6592004
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
3012009
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2352003
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
2052008
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, 2012
1982012
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
1932006
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
1392006
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
1222002
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
1192012
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
1192012
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
119*2001
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
1042012
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
812015
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
612015
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
602005
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
592006
Mutation analysis and description of sixteen RSH/Smith‐Lemli‐Opitz syndrome patients: Polymerase chain reaction–based assays to simplify genotyping
PA Krakowiak, NA Nwokoro, CA Wassif, KP Battaile, MJM Nowaczyk, ...
American journal of medical genetics 94 (3), 214-227, 2000
582000
Smith‐Lemli‐Opitz syndrome: phenotypic extreme with minimal clinical findings
MJM Nowaczyk, DT Whelan, RE Hill
American journal of medical genetics 78 (5), 419-423, 1998
571998
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
562013
Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome
WY Craig, JE Haddow, GE Palomaki, RI Kelley, LE Kratz, CHL Shackleton, ...
Prenatal Diagnosis: Published in Affiliation With the International Society …, 2006
502006
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