Joan H.M. Knoll

10.9k total citations · 4 hit papers
107 papers, 8.1k citations indexed

About

Joan H.M. Knoll is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Joan H.M. Knoll has authored 107 papers receiving a total of 8.1k indexed citations (citations by other indexed papers that have themselves been cited), including 67 papers in Genetics, 61 papers in Molecular Biology and 21 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Joan H.M. Knoll's work include Genomic variations and chromosomal abnormalities (37 papers), Genetic Syndromes and Imprinting (31 papers) and Prenatal Screening and Diagnostics (20 papers). Joan H.M. Knoll is often cited by papers focused on Genomic variations and chromosomal abnormalities (37 papers), Genetic Syndromes and Imprinting (31 papers) and Prenatal Screening and Diagnostics (20 papers). Joan H.M. Knoll collaborates with scholars based in United States, Canada and Germany. Joan H.M. Knoll's co-authors include Robert D. Nicholls, Marc Lalande, Merlin G. Butler, S.A. Latt, M. Lalande, Stefan Mundlos, John B. Mulliken, John M. Graham, Peter K. Rogan and Bjørn R. Olsen and has published in prestigious journals such as Nature, New England Journal of Medicine and Cell.

In The Last Decade

Joan H.M. Knoll

104 papers receiving 7.9k citations

Hit Papers

Mutations Involving the T... 1989 2026 2001 2013 1997 1999 1989 1989 400 800 1.2k
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
    1997 1.2k citations Joan H.M. Knoll et al. profile →
  2. Inhibition of telomerase limits the growth of human cancer cells
    1999 862 citations Joan H.M. Knoll et al. profile →
  3. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    1989 646 citations Joan H.M. Knoll, Marc Lalande et al. profile →
  4. Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    1989 432 citations Joan H.M. Knoll, John M. Graham et al. American Journal of Medical Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Joan H.M. Knoll United States 37 5.0k 4.0k 1.6k 822 799 107 8.1k
Martijn H. Breuning Netherlands 50 6.2k 1.2× 5.9k 1.5× 858 0.5× 791 1.0× 670 0.8× 160 11.0k
Caroline Beard United States 30 9.6k 1.9× 3.4k 0.9× 776 0.5× 940 1.1× 846 1.1× 36 12.0k
Egbert Bakker Netherlands 62 7.2k 1.4× 4.1k 1.0× 898 0.6× 817 1.0× 1.2k 1.5× 246 12.3k
Nicholas D. Hastie United Kingdom 54 9.7k 1.9× 3.0k 0.7× 845 0.5× 591 0.7× 610 0.8× 128 12.1k
Didier Lacombe France 48 4.0k 0.8× 2.7k 0.7× 819 0.5× 561 0.7× 583 0.7× 322 7.8k
Norio Niikawa Japan 52 5.2k 1.0× 4.9k 1.2× 2.1k 1.3× 524 0.6× 276 0.3× 306 9.3k
P. Pearson Netherlands 55 6.3k 1.2× 4.7k 1.2× 901 0.6× 577 0.7× 592 0.7× 209 10.7k
Bernhard Horsthemke Germany 57 8.2k 1.6× 6.7k 1.7× 3.3k 2.1× 1.1k 1.4× 323 0.4× 222 12.9k
Outi Hovatta Sweden 70 7.4k 1.5× 3.1k 0.8× 1.7k 1.1× 446 0.5× 598 0.7× 257 14.9k
Valérie Cormier‐Daire France 62 8.4k 1.7× 7.2k 1.8× 1.0k 0.6× 1.0k 1.2× 645 0.8× 393 14.3k

Countries citing papers authored by Joan H.M. Knoll

Since Specialization
Citations

This map shows the geographic impact of Joan H.M. Knoll'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 Joan H.M. Knoll with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Joan H.M. Knoll more than expected).

Fields of papers citing papers by Joan H.M. Knoll

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Joan H.M. Knoll. 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 Joan H.M. Knoll. The network helps show where Joan H.M. Knoll may publish in the future.

Co-authorship network of co-authors of Joan H.M. Knoll

This figure shows the co-authorship network connecting the top 25 collaborators of Joan H.M. Knoll. A scholar is included among the top collaborators of Joan H.M. Knoll 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 Joan H.M. Knoll. Joan H.M. Knoll is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Yang, Ping, Chitra Prasad, Simon A. Levin, et al.. (2021). De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures. Frontiers in Neurology. 12. 804078–804078. 3 indexed citations
2.
Knoll, Joan H.M., et al.. (2020). Estimating partial-body ionizing radiation exposure by automated cytogenetic biodosimetry. International Journal of Radiation Biology. 96(11). 1492–1503. 13 indexed citations
3.
Berberich, Amanda J., Jian Wang, Henian Cao, et al.. (2020). Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young. Canadian Journal of Diabetes. 45(1). 71–77. 4 indexed citations
4.
Rogan, Peter K., Y. Li, Natasha Caminsky, et al.. (2014). Automating dicentric chromosome detection from cytogenetic biodosimetry data. Radiation Protection Dosimetry. 159(1-4). 95–104. 21 indexed citations
5.
6.
Knoll, Joan H.M.. (2007). Human Metaphase Chromosome FISH Using Quantum Dot Conjugates. Humana Press eBooks. 374. 55–66. 7 indexed citations
7.
Williams, Charles A., Arthur L. Beaudet, Jill Clayton‐Smith, et al.. (2006). Angelman syndrome 2005: Updated consensus for diagnostic criteria. American Journal of Medical Genetics Part A. 140A(5). 413–418. 420 indexed citations
8.
Ming, Jeffrey E., Natalie Blagowidow, Joan H.M. Knoll, et al.. (2000). Submicroscopic deletion in cousins with Prader‐Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting. American Journal of Medical Genetics. 92(1). 19–24. 18 indexed citations
9.
Kocher, Olivier, Natalia Comella, Annalyn Gilchrist, et al.. (1999). PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein.. PubMed. 79(9). 1161–70. 121 indexed citations
10.
Repetto, Gabriela M., et al.. (1998). Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization. American Journal of Medical Genetics. 79(2). 82–89. 86 indexed citations
11.
Blank, Volker, Joan H.M. Knoll, & Nancy C. Andrews. (1997). Molecular Characterization and Localization of the HumanMAFGGene. Genomics. 44(1). 147–149. 12 indexed citations
12.
13.
Schwartz, Faina, R.E. Eisenman, Joan H.M. Knoll, Manfred Gessler, & G.A.P. Bruns. (1995). cDNA Sequence, Genomic Organization, and Evolutionary Conservation of a Novel Gene from the WAGR Region. Genomics. 29(2). 526–532. 17 indexed citations
14.
Spinner, Nancy B., et al.. (1994). Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.. PubMed Central. 55(4). 753–9. 83 indexed citations
15.
Warman, Matthew L., Merja Perälä, Eero Vuorio, et al.. (1994). The Genes Encoding α2(IX) Collagen (COL9A2) Map to Human Chromosome 1p32.3-p33 and Mouse Chromosome 4. Genomics. 23(1). 158–162. 16 indexed citations
16.
Knoll, Joan H.M., Sou‐De Cheng, & Marc Lalande. (1994). Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region. Nature Genetics. 6(1). 41–46. 156 indexed citations
17.
Warman, Matthew L., et al.. (1993). Physical and Linkage Mapping of the Human and Murine Genes for the α1 Chain of Type IX Collagen (COL9A1). Genomics. 17(3). 694–698. 30 indexed citations
18.
Wagstaff, John, Joan H.M. Knoll, J Fleming, et al.. (1991). Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.. PubMed. 49(2). 330–7. 155 indexed citations
19.
Chudley, Albert E., Bohdan Rozdilsky, C. Stuart Houston, et al.. (1985). Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. American Journal of Medical Genetics. 20(1). 145–158. 8 indexed citations
20.
Chudley, Albert E., et al.. (1983). Fragile (X) X‐linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28). American Journal of Medical Genetics. 14(4). 699–712. 69 indexed citations

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.

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