Joan H.M. Knoll

10.9k citations

107 papers · 8.1k indexed · 4 hit papers · h-index 37

Molecular Biology top 1%
Genetics top 0.2%
Pediatrics, Perinatology and Child Health top 0.5%
Oncology top 5%
Physiology top 2%

Co-authors: Robert D. Nicholls Marc Lalande Merlin G. Butler S.A. Latt M. Lalande John B. Mulliken Stefan Mundlos John M. Graham
Topics: Genomic variations and chromosomal abnormalities (37 papers)Genetic Syndromes and Imprinting (31 papers)Prenatal Screening and Diagnostics (20 papers)
Cited by: Genetics Pediatrics, Perinatology and Child Health Molecular Biology
Journals: Nature New England Journal of Medicine Cell
Partner nations: United States Canada Germany

In The Last Decade

Joan H.M. Knoll

104 papers receiving 7.9k citations

Hit Papers

align trajectories

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.

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

1997 1.2k citations Stefan Mundlos, John B. Mulliken et al. profile →
Inhibition of telomerase limits the growth of human cancer cells

1999 862 citations Joan H.M. Knoll et al. profile →
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

1989 646 citations Joan H.M. Knoll, Marc Lalande et al. profile →
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

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

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20 of 20 papers shown

#	Work	Indexed citations
1	De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures 2021 ·Frontiers in Neurology ·Ping Yang,(unknown),Chitra Prasad,Simon A. Levin,Sharan Goobie,Joan H.M. Knoll,Asuri N. Prasad	3
2	Estimating partial-body ionizing radiation exposure by automated cytogenetic biodosimetry 2020 ·International Journal of Radiation Biology ·(unknown),Joan H.M. Knoll,Jayne Moquet,Elizabeth A. Ainsbury,(unknown),(unknown),Ruth C. Wilkins,Peter K. Rogan	13
3	Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young 2020 ·Canadian Journal of Diabetes ·Amanda J. Berberich,Jian Wang,Henian Cao,Adam D. McIntyre,Tamara Spaic,David B. Miller,S. Patricia Stock,Céline Huot,Robert Stein,Joan H.M. Knoll,Ping Yang,John F. Robinson,Robert A. Hegele	4
4	Meeting radiation dosimetry capacity requirements of population-scale exposures by geostatistical sampling 2020 ·PLoS ONE ·Peter K. Rogan,Eliseos J. Mucaki,(unknown),(unknown),Edward Waller,Joan H.M. Knoll	4
5	A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer 2016 ·BMC Medical Genomics ·Eliseos J. Mucaki,Natasha Caminsky,Ami M. Perri,(unknown),Alain Laederach,Matthew Halvorsen,Joan H.M. Knoll,Peter K. Rogan	14
6	Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis 2016 ·Journal of Molecular Diagnostics ·Laila C. Schenkel,Jennifer Kerkhof,Alan Stuart,Jack Reilly,Barry Eng,(unknown),(unknown),Christopher J. Howlett,(unknown),Joan H.M. Knoll,Peter Ainsworth,John S. Waye,Bekim Sadiković	43
7	Radiation Dose Estimation by Automated Cytogenetic Biodosimetry 2016 ·Radiation Protection Dosimetry ·Peter K. Rogan,Yanxin Li,Ruth C. Wilkins,Farrah Flegal,Joan H.M. Knoll	18
8	Structural and genic characterization of stable genomic regions in breast cancer: Relevance to chemotherapy 2012 ·Molecular Oncology ·Nicole I. Park,Peter K. Rogan,(unknown),Joan H.M. Knoll	9
9	Human Metaphase Chromosome FISH Using Quantum Dot Conjugates 2007 ·Humana Press eBooks ·Joan H.M. Knoll	7
10	Angelman syndrome 2005: Updated consensus for diagnostic criteria 2006 ·American Journal of Medical Genetics Part A ·Charles A. Williams,Arthur L. Beaudet,Jill Clayton‐Smith,Joan H.M. Knoll,(unknown),Laura Laan,R. Ellen Magenis,A Moncla,Albert Schinzel,Jane Summers,Joseph Wagstaff	420
11	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. 1999 ·PubMed ·Olivier Kocher,Natalia Comella,Annalyn Gilchrist,Rinku Pal,K Tognazzi,LC Brown,Joan H.M. Knoll	121
12	Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization 1998 ·American Journal of Medical Genetics ·Gabriela M. Repetto,Lisa White,(unknown),Debra Johnson,Joan H.M. Knoll	86
13	Molecular Characterization and Localization of the HumanMAFGGene 1997 ·Genomics ·Volker Blank,Joan H.M. Knoll,Nancy C. Andrews	12
14	An Isotype-specific Activator of Major Histocompatibility Complex (MHC) Class II Genes That Is Independent of Class II Transactivator 1997 ·The Journal of Experimental Medicine ·John Douhan,Rebecca Lieberson,Joan H.M. Knoll,Hong Zhou,Laurie H. Glimcher	33
15	The γ-aminobutyric acid receptor γ3 subunit gene (GABRG3) is tightly linked to the α5 subunit gene (GABRA5) on human chromosome 15q11–q13 and is transcribed in the same orientation 1995 ·Genomics ·Valerie Greger,Joan H.M. Knoll,Elizabeth A. Woolf,Karen A. Glatt,Rachel F. Tyndale,Timothy M. DeLorey,R. W. Olsen,Allan J. Tobin,James M. Sikela,Yoshimichi Nakatsu,Murray H. Brilliant,Paul J. Whiting,M. Lalande	57
16	Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family 1995 ·Human Molecular Genetics ·Stefan Mundlos,John B. Mulliken,(unknown),Matthew L. Warman,Joan H.M. Knoll,Bjørn R. Olsen	92
17	Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. 1994 ·PubMed Central ·(unknown),Nancy B. Spinner,Elaine H. Zackai,Joan H.M. Knoll	83
18	Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region 1994 ·Nature Genetics ·Joan H.M. Knoll,Sou‐De Cheng,Marc Lalande	156
19	The Genes Encoding α2(IX) Collagen (COL9A2) Map to Human Chromosome 1p32.3-p33 and Mouse Chromosome 4 1994 ·Genomics ·Matthew L. Warman,(unknown),Merja Perälä,Eero Vuorio,Joan H.M. Knoll,(unknown),Richard Mayne,David R. Beier,Bjørn R. Olsen	16
20	Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. 1991 ·PubMed ·John Wagstaff,Joan H.M. Knoll,J Fleming,(unknown),Antonia Martín-Gallardo,Frank Greenberg,John M. Graham,Joan C. Menninger,David C. Ward,J. Craig Venter	155

About Joan H.M. Knoll

Joan H.M. Knoll is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Cancer Research, having authored 107 papers that have together received 8.1k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (37 papers), Genetic Syndromes and Imprinting (31 papers) and Prenatal Screening and Diagnostics (20 papers). The work is most often cited by research in Genetics (4.0k citations), Pediatrics, Perinatology and Child Health (1.6k citations) and Molecular Biology (5.0k citations). Joan H.M. Knoll has collaborated with scholars based in United States, Canada and Germany. Frequent co-authors include Robert D. Nicholls, Marc Lalande, Merlin G. Butler, S.A. Latt, M. Lalande, John B. Mulliken, Stefan Mundlos, John M. Graham, Peter K. Rogan and Bjørn R. Olsen. Their work appears in journals such as Nature, New England Journal of Medicine and Cell.

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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