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L. Massingham · SciRah

Researcher profile · Semantic Scholar

L. Massingham

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L. Massingham — researcher profile on SciRah

h-index: 12
Works: 27
Citations: 1,413

Most-cited papers

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Kandamurugu Manickam, Monica R. McClain, L. Demmer, Sawona Biswas +6 more
2021Genetics in Medicine568 citations Open access
Semantic Scholar
Pericyte production of cell-associated VEGF is differentiation-dependent and is associated with endothelial survival.
D. Darland, L. Massingham, Sandra R. Smith, E. Piek +2 more
2003Developmental Biology388 citations Open access
Semantic Scholar
Endothelial cell-astrocyte interactions and TGF beta are required for induction of blood-neural barrier properties.
Claudia M. Garcia, D. Darland, L. Massingham, P. D'Amore
2004Brain research. Developmental brain research118 citations
Semantic Scholar
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
D. McKnight, A. Morales, K. Hatchell, S. Bristow +121 more
2022JAMA Neurology81 citations Open access
Semantic Scholar
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome
L. Massingham, K. L. Johnson, T. Scholl, D. Slonim +2 more
2014Human Genetics51 citations Open access
Semantic Scholar
An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome
F. Guedj, J. la Pennings, L. Massingham, Heather C. Wick +3 more
2016Scientific Reports49 citations Open access
Semantic Scholar
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
L. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer +68 more
2020American Journal of Human Genetics46 citations Open access
Semantic Scholar
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model
F. Guedj, J. la Pennings, Ashley Siegel, Fatimah Alsebaa +3 more
2018bioRxiv25 citations Open access
Semantic Scholar
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
Jesse M. Hunter, L. Massingham, Kandamurugu Manickam, D. Bartholomew +9 more
2022Cold Spring Harbor molecular case studies17 citations Open access
Semantic Scholar
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Cosima M. Schmid, A. Gregor, G. Costain, Chantal F. Morel +25 more
2023Genetics in Medicine15 citations
Semantic Scholar
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, S. Valence, Geoffroy Delplancq, R. Maroofian +86 more
2023European Journal of Human Genetics12 citations Open access
Semantic Scholar
Proof of concept study to assess fetal gene expression in amniotic fluid by nanoarray PCR.
L. Massingham, K. L. Johnson, D. Bianchi, Shermin Pei +4 more
2011Journal of Molecular Diagnostics12 citations Open access
Semantic Scholar
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements
Imane Abdelmoumen, Sandra Jimenez, I. Valencia, J. Melvin +16 more
2020Journal of Child Neurology9 citations Open access
Semantic Scholar
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Marwan K. Tayeh, Margaret Chen, S. Fullerton, Patrick R. Gonzales +6 more
2022Genetics in Medicine7 citations Open access
Semantic Scholar
Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
C. Montcrieff, K. A. Ferreira, Tracey A. Cheves, L. Massingham +1 more
2023Transfusion5 citations Open access
Semantic Scholar
Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant
D. Olivieri, L. Massingham, Jennifer Schwab, J. B. Quintos
2021Case Reports in Endocrinology3 citations Open access
Semantic Scholar
Current Indications for Consideration of Evaluation for Hereditary Cancer Predisposition Syndromes and How They Can Change Management.
L. Massingham, A. D. de Souza
2020R.I. medical journal3 citations
Semantic Scholar
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy
M. Paul, Sydney L. Michener, Hong-Ling Pan, Jessica M Pfliger +41 more
2023medRxiv2 citations Open access
Semantic Scholar
Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review.
Abigail L Alexander, Swee Yang Lim, L. Massingham, O. Phillips +2 more
2022Journal of Neuropathology and Experimental Neurology1 citations Open access
Semantic Scholar
MON-093 Pleuropulmonary Blastoma and Multinodular Goiter in a 22 Yr Old Male with DICER1 Syndrome
Ugen Lhamu, C. Phornphutkul, L. Massingham, J. B. Quintos
2020Journal of the Endocrine Society1 citations Open access
Semantic Scholar
Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus
Anna Delamerced, L. Massingham, J. B. Quintos
2020Case Reports in Endocrinology1 citations Open access
Semantic Scholar
Neuropathologic Findings in a Child with a Novel Variant of TBCK-Related Encephaloneuronopathy
Sonja Chen, F. Zakka, S. Khedr, S. Mangray +2 more
2019Journal of Pediatric Neurology online1 citations
Semantic Scholar
Abstract P4-06-02: Germline analysis of breast cancer patients with abnormal somatic results: Ancillary assessment or critical co-diagnostic?
Amie M. Blanco, Shan Yang, Scott T. Michalski, K. Ouyang +14 more
20181 citations
Semantic Scholar
Racial disparities in genetic testing in children with pediatric epilepsy (P3-9.012)
Kunal Bonde, J. R. Tanzer, L. Massingham, Rachit S. Patil
2023Sunday, April 230 citations
Semantic Scholar
Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease.
Maria C. Bryant, L. Massingham, A. Yalçındağ
2023R.I. medical journal0 citations
Semantic Scholar
Management impact of preoperative germline genetic testing in patients with breast cancer at the Lifespan Cancer Institute.
Kaitlyn P Lew, D. Dizon, C. Phornphutkul, C. Benson +4 more
20210 citations
Semantic Scholar
Pericyte Production of VEGF is Differentiation-Dependent and Mediates Endothelial Survival
P. D'Amore, L. Massingham, Sandra R. Smith, Abigail R. E. Roberts +2 more
20020 citations
Semantic Scholar

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