Małgorzata J.M. Nowaczyk

5.7k citations

80 papers · 1.6k indexed · h-index 24

Molecular Biology top 10%
Genetics top 5%
Surgery top 10%
Pediatrics, Perinatology and Child Health top 5%
Oncology

Co-authors: Mira Irons Susan Zeesman John S. Waye Donald T. Whelan Robert E. Hill James D. Douketis Ikuko Teshima Mark A. Tarnopolsky
Topics: Genomic variations and chromosomal abnormalities (22 papers)Cholesterol and Lipid Metabolism (21 papers)Peroxisome Proliferator-Activated Receptors (19 papers)
Cited by: Genetics Clinical Biochemistry Molecular Biology
Journals: American Journal of Psychiatry PEDIATRICS Biochemical Journal
Partner nations: Canada United States Poland

In The Last Decade

Małgorzata J.M. Nowaczyk

77 papers receiving 1.5k citations

Peers

Countries citing papers authored by Małgorzata J.M. Nowaczyk

Since Specialization

Citations

This map shows the geographic impact of Małgorzata J.M. Nowaczyk's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Małgorzata J.M. Nowaczyk with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Małgorzata J.M. Nowaczyk more than expected).

Fields of papers citing papers by Małgorzata J.M. Nowaczyk

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Małgorzata J.M. Nowaczyk. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Małgorzata J.M. Nowaczyk. The network helps show where Małgorzata J.M. Nowaczyk may publish in the future.

Co-authorship network of co-authors of Małgorzata J.M. Nowaczyk

This figure shows the co-authorship network connecting the top 25 collaborators of Małgorzata J.M. Nowaczyk. A scholar is included among the top collaborators of Małgorzata J.M. Nowaczyk based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Małgorzata J.M. Nowaczyk. Małgorzata J.M. Nowaczyk is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Evidence-based medicine and COVID-19: human important outcome measures. Making decisions under conditions of uncertainty 2020 ·Polskie Archiwum Medycyny Wewnętrznej ·Roman Jaeschke,James Douketis,Małgorzata J.M. Nowaczyk,Gordon Guyatt	0
2	A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene 2016 ·American Journal of Medical Genetics Part A ·Małgorzata J.M. Nowaczyk,Lijia Huang,Mark A. Tarnopolsky,Jeremy Schwartzentruber,Jacek Majewski,Dennis E. Bulman,Taila Hartley,Kym M. Boycott	31
3	SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant 2013 ·The American Journal of Human Genetics ·Andrew Dauber,Christelle Golzio,(unknown),Francine M. Jodelka,Maria Kibæk,Susanne Kjærgaard,Bruno Leheup,Danielle Martinet,Małgorzata J.M. Nowaczyk,Jill A. Rosenfeld,Susan Zeesman,Janice Zunich,J. Beckmann,Joel N. Hirschhorn,Michelle L. Hastings,(unknown),Nicholas Katsanis	58
4	Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology 2012 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Małgorzata J.M. Nowaczyk,Mira Irons	111
5	Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies 2012 ·American Journal of Medical Genetics Part A ·Dinah Clark,Ilana Sherer,Matthew A. Deardorff,Janice L. B. Byrne,Kathleen M. Loomes,Małgorzata J.M. Nowaczyk,Laird G. Jackson,Ian D. Krantz	37
6	Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients 2009 ·American Journal of Medical Genetics Part A ·Jia‐Chi Wang,(unknown),Brenda Lomax,Lesley Turner,Mary Shago,Ahmad S. Teebi,Regan Klatt,Patrick MacLeod,Siu‐Li Yong,Małgorzata J.M. Nowaczyk,Patrice Eydoux	6
7	4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations 2009 ·American Journal of Medical Genetics Part A ·Jia‐Chi Wang,(unknown),(unknown),Ikuko Teshima,Małgorzata J.M. Nowaczyk	18
8	Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance 2008 ·American Journal of Medical Genetics Part A ·Małgorzata J.M. Nowaczyk,Melissa T. Carter,Jie Xu,Marlene J. Huggins,Gordana Raca,Soma Das,Christa Lese Martin,Stuart Schwartz,Robert L. Rosenfield,Darrel Waggoner	20
9	De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome 2007 ·American Journal of Medical Genetics Part A ·John S. Waye,Barry Eng,Murray Potter,Małgorzata J.M. Nowaczyk,Deborah E. McFadden,Sylvie Langlois	1
10	Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome 2006 ·Prenatal Diagnosis ·Wendy Y. Craig,James E. Haddow,Glenn E. Palomaki,Richard I. Kelley,Lisa E. Kratz,Cedric Shackleton,Josep Marcos,G S Tint,Andrew R. MacRae,Małgorzata J.M. Nowaczyk,Edward M. Kloza,Mira Irons,Marie Roberson	34
11	SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations 2006 ·European Journal of Medical Genetics ·Elżbieta Ciara,Ewa Popowska,Dorota Piekutowska‐Abramczuk,Dorota Jurkiewicz,(unknown),(unknown),(unknown),Małgorzata J.M. Nowaczyk,Małgorzata Krajewska‐Walasek	22
12	FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures 2005 ·American Journal of Medical Genetics Part A ·Kamilla Schlade‐Bartusiak,Teresa Costa,Anne Summers,Małgorzata J.M. Nowaczyk,Diane W. Cox	28
13	Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance 2004 ·The Journal of Pediatrics ·Małgorzata J.M. Nowaczyk,Susan Zeesman,John S. Waye,James D. Douketis	25
14	Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers 2004 ·American Journal of Psychiatry ·Aleksandra Lalovic,Louise S. Merkens,Laura Russell,Geneviève Arsenault‐Lapierre,Małgorzata J.M. Nowaczyk,Forbes D. Porter,Robert D. Steiner,Gustavo Turecki	30
15	De novo 1q32q44 duplication and distal 1q trisomy syndrome 2003 ·American Journal of Medical Genetics Part A ·Małgorzata J.M. Nowaczyk,Jane Bayani,Viola Freeman,John Watts,Jeremy A. Squire,Jie Xu	26
16	Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype 2002 ·American Journal of Medical Genetics ·Chitra Prasad,Sandra L. Marles,Asuri N. Prasad,Sarah M. Nikkel,Sally Longstaffe,(unknown),Barry Eng,Sarah Wright,John S. Waye,Małgorzata J.M. Nowaczyk	15
17	Adrenal insufficiency and hypertension in a newborn infant with Smith‐Lemli‐Opitz syndrome 2001 ·American Journal of Medical Genetics ·Małgorzata J.M. Nowaczyk,Victoria Mok Siu,Patrycja A. Krakowiak,Forbes D. Porter	2
18	Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings 1998 ·American Journal of Medical Genetics ·Małgorzata J.M. Nowaczyk,Donald T. Whelan,Robert E. Hill	50
19	Schimke immunoosseous dysplasia complicated by moyamoya phenomenon 1998 ·American Journal of Medical Genetics ·Cornelius F. Boerkoel,Małgorzata J.M. Nowaczyk,Susan Blasér,Wendy S. Meschino,Rosanna Weksberg	18
20	Hirschsprung disease, postaxial polydactyly, and atrial septal defect 1997 ·American Journal of Medical Genetics ·Małgorzata J.M. Nowaczyk,(unknown),(unknown),J. Siegel‐Bartelt	4

About Małgorzata J.M. Nowaczyk

Małgorzata J.M. Nowaczyk is a scholar working on Developmental Biology, Genetics and Clinical Biochemistry, having authored 80 papers that have together received 1.6k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (22 papers), Cholesterol and Lipid Metabolism (21 papers) and Peroxisome Proliferator-Activated Receptors (19 papers). The work is most often cited by research in Genetics (638 citations), Clinical Biochemistry (93 citations) and Molecular Biology (886 citations). Małgorzata J.M. Nowaczyk has collaborated with scholars based in Canada, United States and Poland. Frequent co-authors include Mira Irons, Susan Zeesman, John S. Waye, Donald T. Whelan, Robert E. Hill, James D. Douketis, Ikuko Teshima, Mark A. Tarnopolsky, Cornelius F. Boerkoel and Stephen W. Scherer. Their work appears in journals such as American Journal of Psychiatry, PEDIATRICS and Biochemical Journal.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact