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L. Seaver · SciRah

Researcher profile · Semantic Scholar

L. Seaver

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L. Seaver — researcher profile on SciRah

h-index: 25
Works: 66
Citations: 2,778

Most-cited papers

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
Jian-Ming Fang, S. Dagenais, R. Erickson, Martin F. Arlt +4 more
2000American Journal of Human Genetics644 citations Open access
Semantic Scholar
Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United States
R. Stevenson, W. Allen, G. Pai, R. Best +3 more
2000Pediatrics208 citations
Semantic Scholar
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
C. Carvalho, M. Ramocki, D. Pehlivan, Luis M. Franco +17 more
2011Nature Genetics206 citations Open access
Semantic Scholar
Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum
V. Matejas, Bernward G. Hinkes, F. Alkandari, L. Al-Gazali +34 more
2010Human Mutation200 citations Open access
Semantic Scholar
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Margaret J. McMillin, A. Beck, Jessica X. Chong, Kathryn M. B. Shively +41 more
2014American Journal of Human Genetics199 citations Open access
Semantic Scholar
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
U. Schwarze, T. Cundy, Shawna M. Pyott, H. Christiansen +34 more
2013Human Molecular Genetics139 citations Open access
Semantic Scholar
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
L. Biesecker, M. Adam, F. Alkuraya, A. Amemiya +43 more
2021American Journal of Human Genetics89 citations Open access
Semantic Scholar
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome
Angela Myers, J. Bernstein, M. Brennan, C. Curry +9 more
2014American Journal of Medical Genetics. Part A88 citations
Semantic Scholar
Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
Alasdair G. W. Hunter, L. Seaver, R. E. Stevenson
2011American Journal of Medical Genetics. Part A86 citations
Semantic Scholar
ACMG practice guideline: Genetic evaluation of short stature
L. Seaver, M. Irons
2009Genetics in Medicine79 citations Open access
Semantic Scholar
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Chih-Chuan Wang, X. Ortiz-González, S. Yum, S.M. Gill +8 more
2018American Journal of Human Genetics66 citations Open access
Semantic Scholar
Indications for genetic referral: a guide for healthcare providers
B. Pletcher, H. Toriello, S. Noblin, L. Seaver +3 more
2007Genetics in Medicine57 citations Open access
Semantic Scholar
Neural tube defects and associated anomalies in South Carolina.
R. Stevenson, L. Seaver, J. S. Collins, Jane H. Dean
2004Birth defects research. Clinical and molecular teratology53 citations
Semantic Scholar
Informed consent for medical photographs
Christopher Cunniff, J. Byrne, Louanne Hudgins, J. Moeschler +5 more
2000Genetics in Medicine47 citations Open access
Semantic Scholar
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
F. Vetrini, S. McKee, J. Rosenfeld, M. Suri +53 more
2019Genome Medicine44 citations Open access
Semantic Scholar
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
T. Grebe, G. Khushf, Margaret Chen, D. Bailey +4 more
2020Genetics in Medicine42 citations Open access
Semantic Scholar
Toriello–Carey syndrome: Delineation and review
H. Toriello, John C. Carey, M. Addor, W. Allen +21 more
2003American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
K. Gibson, S. B. Cassidy, L. Seaver, R. Wanders +3 more
1994Journal of Inherited Metabolic Disease33 citations
Semantic Scholar
Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.
L. Seaver, J. Pierpont, Robert P. Erickson, R. Donnerstein +1 more
1994Journal of Medical Genetics32 citations Open access
Semantic Scholar
A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability
L. Seaver, Xue-Ying He, K. Abe, T. Cowan +6 more
2011PLoS ONE27 citations Open access
Semantic Scholar
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).
L. Seaver, G. Khushf, Nancy King, Dena R Matalon +3 more
2021Genetics in Medicine26 citations Open access
Semantic Scholar
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
Kimberly J. Moles, G. Gowans, Satyanarayana Gedela, D. Beversdorf +6 more
2012Genetics in Medicine26 citations
Semantic Scholar
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
L. Villard, Marie-Claude Bonino, F. Abidi, A. Ragusa +11 more
1999Journal of Medical Genetics26 citations Open access
Semantic Scholar
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.
L. Seaver, S. Deroos, N. J. Andersen, B. Betz +4 more
2018Pediatric Neurology25 citations
Semantic Scholar
Spondylocarpotarsal synostosis syndrome and cervical instability.
L. Seaver, E. Boyd
2000American journal of medical genetics25 citations
Semantic Scholar
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?
V. Diep, L. Seaver
2015American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Congenital lymphocytic choriomeningitis virus infection.
L. Barton, C. Peters, L. Seaver, S. Chartrand
1996Archives of Pediatrics & Adolescent Medicine22 citations
Semantic Scholar
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects
M. Brennan, Margaret P. Adam, L. Seaver, Angela Myers +4 more
2015American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita
Yao-Hua Zhang, Bing-Ling Huang, K. Anyane-Yeboa, Julienne A. R. Carvalho +14 more
2001Human Mutation21 citations Open access
Semantic Scholar
Fetal Radiology: A Diagnostic Atlas
J. Spranger, L. Seaver, R. Schumacher
201320 citations Open access
Semantic Scholar
Focused Revision: ACMG practice resource: Genetic evaluation of short stature
Cassie S. Mintz, L. Seaver, M. Irons, A. Grimberg +1 more
2021Genetics in Medicine16 citations Open access
Semantic Scholar
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon‐like autosomal recessive syndrome
Nisha Korakavi, J. Prokop, L. Seaver
2019American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Three cases of Troyer syndrome in two families of Filipino descent
Shauna Butler, K. Helbig, W. Alcaraz, L. Seaver +2 more
2016American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations
R. A. Kumar, S. Leach, R. Bonaguro, J. Chen +7 more
2007Genes, Brain and Behavior16 citations Open access
Semantic Scholar
The perinatal presentation of cardiofaciocutaneous syndrome
Kara N. Wong Ramsey, M. Loichinger, Thomas P. Slavin, Sheree Kuo +1 more
2014American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
T. Slavin, S. Zaidi, C. Neal, B. Nishikawa +1 more
2014JIMD Reports10 citations Open access
Semantic Scholar
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
Eva Z. Jacobs, K. Brown, M. Byler, E. D'Haenens +17 more
2020Clinical Genetics9 citations
Semantic Scholar
PTPN4 germline variants result in aberrant neurodevelopment and growth
J. J. Chmielewska, Deepika D Burkardt, J. Granadillo, R. Slaugh +12 more
2021HGG advances7 citations Open access
Semantic Scholar
Fetal Radiology
R. Schumacher, L. Seaver, J. Spranger
2004Springer Berlin Heidelberg7 citations
Semantic Scholar
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Julie Ngo, J. Prokop, Jason Umfleet, L. Seaver
2021Child Neurology Open6 citations Open access
Semantic Scholar
Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?
Y. Wilnai, L. Seaver, Gregory M. Enns
2012American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
Adverse environmental exposures in pregnancy: teratology in adolescent medicine practice.
L. Seaver
2002Adolescent Medicine6 citations
Semantic Scholar
Perinatal Distress in 1p36 Deletion Syndrome can Mimic Hypoxic Ischemic Encephalopathy
L. Carter, A. Battaglia, A. Cherry, M. Manning +20 more
2019American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
A. Manoukian, C. Ha, L. Seaver, N. V. Bhagavan
2009American Journal of Forensic Medicine and Pathology5 citations
Semantic Scholar
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies and tall stature
A. Strong, Soumya Rao, S. von Hardenberg, Dong Li +34 more
2023American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4
A. M. Siddiqui, D. Everman, R. Rogers, B. Dupont +6 more
2009Ophthalmic Genetics4 citations
Semantic Scholar
Birth defects research: improving surveillance methods and addressing epidemiologic questions and public health issues.
R. Kirby, L. Seaver
2005Birth defects research. Clinical and molecular teratology4 citations
Semantic Scholar
NMDA receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
Jacob Charron, Angel Hernández, Stephanie M. Bilinovich, Daniel L. Vogt +7 more
2021American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Reply to Finsterer Regarding Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.
L. Seaver, S. Deroos, B. Betz, S. Rajasekaran
2019Pediatric Neurology3 citations
Semantic Scholar
Unique Ocular Findings in an Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome.
Taylor Sawyer, D. Young, J. Drouilhet, L. Seaver +1 more
2010Journal of pediatric ophthalmology and strabismus3 citations
Semantic Scholar

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