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Melissa J Rumple · SciRah

Researcher profile · Semantic Scholar

Melissa J Rumple

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Melissa J Rumple — researcher profile on SciRah

h-index: 5
Works: 8
Citations: 203

Most-cited papers

The spectrum of intermediate SCN8A‐related epilepsy
Kathrine M. Johannesen, E. Gardella, A. Encinas, A. Lehesjoki +41 more
2019Epilepsia83 citations Open access
Semantic Scholar
The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis
K. Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez +45 more
2019Genetics in Medicine74 citations Open access
Semantic Scholar
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
Morteza Hemmat, Melissa J Rumple, Loretta W. Mahon, C. Strom +4 more
2014Molecular Cytogenetics32 citations Open access
Semantic Scholar
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
K. Weiss, Hayley P. Lazar, A. Kurolap, Ariel F. Martinez +45 more
2019Genetics in Medicine6 citations Open access
Semantic Scholar
CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
Morteza Hemmat, Melissa J Rumple, Loretta W. Mahon, Melanie Morrow +5 more
2017Molecular Cytogenetics6 citations Open access
Semantic Scholar
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
Morteza Hemmat, Melissa J Rumple, Loretta W. Mahon, C. Strom +4 more
2014Molecular Cytogenetics2 citations Open access
Semantic Scholar
CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
Morteza Hemmat, Melissa J Rumple, Loretta W. Mahon, Melanie Morrow +5 more
2017Molecular Cytogenetics0 citations Open access
Semantic Scholar
Compound heterozygosity of two MECP2 deletions with paternal inheritance of a late-truncating mutation in a female with atypical Rett syndrome (P4.253)
Amanda Lindy, Melissa J Rumple, Melanie Morrow, Anita Shanmugham +2 more
2015Neurology0 citations
Semantic Scholar

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Morteza Hemmat×4
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Morteza Hemmat — researcher profile on SciRah
Loretta W. Mahon×4
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Loretta W. Mahon — researcher profile on SciRah
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Hayley P. Lazar — researcher profile on SciRah

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