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A. Kline · SciRah

Researcher profile · Semantic Scholar

A. Kline

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A. Kline — researcher profile on SciRah

h-index: 31
Works: 87
Citations: 4,360

Most-cited papers

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
M. Deardorff, M. Kaur, Dinah Yaeger, Abhinav Rampuria +14 more
2007American Journal of Human Genetics546 citations Open access
Semantic Scholar
de Lange syndrome: a clinical review of 310 individuals.
Laird G. Jackson, A. Kline, M. Barr, S. Koch
1993American journal of medical genetics339 citations
Semantic Scholar
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
A. Kline, J. Moss, A. Selicorni, A. Bisgaard +39 more
2018Nature reviews genetics334 citations Open access
Semantic Scholar
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
L. Gillis, Jennifer McCallum, M. Kaur, Cheryl Descipio +7 more
2004American Journal of Human Genetics327 citations Open access
Semantic Scholar
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
A. Kline, I. Krantz, A. Sommer, M. Kliewer +4 more
2007American Journal of Medical Genetics. Part A283 citations
Semantic Scholar
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, E. Madsen, J. Juusola, C. Gilissen +81 more
2015American Journal of Human Genetics273 citations Open access
Semantic Scholar
Natural history of aging in Cornelia de Lange syndrome
A. Kline, M. Grados, P. Sponseller, H. Levy +8 more
2007American Journal of Medical Genetics. Part C, Seminars in Medical Genetics190 citations Open access
Semantic Scholar
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Frank J. Kaiser, Morad Ansari, D. Braunholz, María Concepción Gil-Rodríguez +79 more
2014Human Molecular Genetics163 citations Open access
Semantic Scholar
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Jessica X. Chong, Margaret J. McMillin, Kathryn M. B. Shively, A. Beck +29 more
2015American Journal of Human Genetics136 citations Open access
Semantic Scholar
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
A. Kline, M. White, R. Wapner, K. Rojas +6 more
1993American Journal of Human Genetics109 citations
Semantic Scholar
Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey
S. Rohatgi, Dinah M. Clark, A. Kline, Laird G. Jackson +5 more
2010American Journal of Medical Genetics. Part A87 citations Open access
Semantic Scholar
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
M. Gil-Rodríguez, M. Deardorff, Morad Ansari, Christopher A. Tan +58 more
2015Human Mutation85 citations Open access
Semantic Scholar
Growth manifestations in the Brachmann-de Lange syndrome.
A. Kline, M. Barr, Laird G. Jackson
1993American journal of medical genetics85 citations Open access
Semantic Scholar
Noonan Syndrome in Diverse Populations
P. Kruszka, A. R. Porras, Y. Addissie, A. Moresco +58 more
2017American Journal of Medical Genetics. Part A80 citations Open access
Semantic Scholar
Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature
Samantha A. Schrier, Ilana Sherer, M. Deardorff, Dinah M. Clark +7 more
2011American Journal of Medical Genetics. Part A75 citations Open access
Semantic Scholar
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
R. Bachmann-Gagescu, G. Ishak, J. Dempsey, J. Adkins +15 more
2012Journal of Medical Genetics72 citations Open access
Semantic Scholar
Developmental data on individuals with the Brachmann-de Lange syndrome.
A. Kline, C. Stanley, Jacqueline K. S. Belevich, Karen Brodsky +2 more
1993American journal of medical genetics70 citations
Semantic Scholar
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK
P. Y. Billie Au, Jing You, O. Caluseriu, J. Schwartzentruber +8 more
2015Human Mutation69 citations Open access
Semantic Scholar
Pediatric joint hypermobility: a diagnostic framework and narrative review
Louise J. Tofts, J. Simmonds, S. Schwartz, Roberto Richheimer +9 more
2023Orphanet Journal of Rare Diseases65 citations Open access
Semantic Scholar
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Li-Jia Huang, M. Vanstone, T. Hartley, M. Osmond +49 more
2015Human Mutation62 citations Open access
Semantic Scholar
SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome
Jinglan Liu, Rachel Feldman, Zhe Zhang, M. Deardorff +9 more
2009Human Mutation61 citations Open access
Semantic Scholar
Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis
Kathryn C. Chatfield, Samantha A. Schrier, J. R. Li, Dinah M. Clark +6 more
2012American Journal of Medical Genetics. Part A60 citations Open access
Semantic Scholar
Newborn Screening for X-linked Adrenoleukodystrophy: Further evidence high throughput screening is feasible
C. Theda, Katherine M. Gibbons, T. Defor, P. Donohue +9 more
2013Molecular Genetics and Metabolism53 citations Open access
Semantic Scholar
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders
Wei-Yi Mu, Michael Muriello, Julia L Clemens, You Wang +6 more
2019American Journal of Medical Genetics. Part A46 citations Open access
Semantic Scholar
Autism traits in children and adolescents with Cornelia de Lange syndrome
S. Srivastava, Colleen Landy-Schmitt, Bennett Clark, A. Kline +2 more
2014American Journal of Medical Genetics. Part A41 citations
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
D. Connaughton, R. Dai, D. Owen, Jonathan Marquez +95 more
2020American Journal of Human Genetics39 citations Open access
Semantic Scholar
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, J. Breckpot +13 more
2018European Journal of Human Genetics39 citations Open access
Semantic Scholar
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
D. Braunholz, Melanie A. Hullings, M. Gil-Rodríguez, Christopher T. Fincher +17 more
2011European Journal of Human Genetics37 citations Open access
Semantic Scholar
Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.
R. Mewar, A. Kline, W. Harrison, K. Rojas +2 more
1993American Journal of Human Genetics34 citations
Semantic Scholar
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Hanyin Cheng, Simona Capponi, E. Wakeling, E. Marchi +52 more
2019Human Mutation31 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2022American Journal of Human Genetics30 citations Open access
Semantic Scholar
Somatic cell hybrid deletion map of human chromosome 18.
A. Kline, K. Rojas, R. Mewar, Deborah Moshinsky +1 more
1992Genomics30 citations
Semantic Scholar
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo
Dubravka Cukrov, Trent A. C. Newman, M. Leask, Bryony Leeke +6 more
2018Human Molecular Genetics28 citations Open access
Semantic Scholar
Cornelia de Lange syndrome: Extending the physical and psychological phenotype
C. Oliver, M. Bedeschi, N. Blagowidow, Cheri S. Carrico +12 more
2010American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
STS map of genes and anonymous DNA fragments on human chromosome 18 using a panel of somatic cell hybrids.
J. Overhauser, R. Mewar, K. Rojas, Kisten Lia +2 more
1993Genomics25 citations
Semantic Scholar
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Yan-Jie Fan, Wu Yin, Bing Hu, A. Kline +17 more
2018American Journal of Human Genetics23 citations Open access
Semantic Scholar
Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment
T. R. Roshan Lal, M. Kliewer, Thelma C Lopes, Susan L. Rebsamen +5 more
2016American Journal of Medical Genetics. Part C, Seminars in Medical Genetics23 citations Open access
Semantic Scholar
Genome-wide DNA methylation analysis in cohesin mutant human cell lines
Jinglan Liu, Zhe Zhang, Masashige Bando, T. Itoh +12 more
2010Nucleic Acids Research23 citations Open access
Semantic Scholar
Characterization of sleep disturbance in Cornelia de Lange Syndrome.
Rose Stavinoha, A. Kline, H. Levy, Amy Kimball +2 more
2011International Journal of Pediatric Otorhinolaryngology22 citations
Semantic Scholar
Insomnia in Cornelia de Lange syndrome.
R. Rajan, James R. Benke, A. Kline, H. Levy +4 more
2012International Journal of Pediatric Otorhinolaryngology18 citations
Semantic Scholar
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287–1296
A. Kline, I. Krantz, A. Sommer, M. Kliewer +4 more
200816 citations Open access
Semantic Scholar
Pain and sleep quality in children with non-vascular Ehlers–Danlos syndromes
Michael Muriello, Julia L. Clemens, Wei-Yi Mu, Phuong T. Tran +5 more
2018American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Improvement in hearing loss over time in Cornelia de Lange syndrome.
K. Janek, David F. Smith, A. Kline, James R. Benke +3 more
2016International Journal of Pediatric Otorhinolaryngology14 citations
Semantic Scholar
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016
A. Kline, I. Krantz, M. Deardorff, K. Shirahige +24 more
2017American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
K. Barañano, Amy Kimball, S. Fong, Alena S. Egense +2 more
2022Journal of Child Neurology12 citations
Semantic Scholar
Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization.
R. Mewar, A. Kline, Laird G. Jackson, J. Overhauser
1992American journal of medical genetics11 citations
Semantic Scholar
Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts
A. Kline, Anne L. Calof, Cheri A. Schaaf, Ian D. Krantz +17 more
2014American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2025American Journal of Human Genetics9 citations
Semantic Scholar
Au-Kline Syndrome
P. Au, A. M. Innes, A. Kline
20199 citations
Semantic Scholar

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