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Lindsay B. Henderson · SciRah

Researcher profile · Semantic Scholar

Lindsay B. Henderson

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Lindsay B. Henderson — researcher profile on SciRah

h-index: 25
Works: 48
Citations: 2,099

Most-cited papers

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
Lei Sun, J. Rommens, H. Corvol, Weili Li +25 more
2012Nature Genetics209 citations Open access
Semantic Scholar
Monogenic variants in dystonia: an exome-wide sequencing study
M. Zech, R. Jech, S. Boesch, M. Škorvánek +107 more
2020Lancet Neurology190 citations Open access
Semantic Scholar
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
S. Martinelli, Oliver H. F. Krumbach, F. Pantaleoni, Simona Coppola +44 more
2018American Journal of Human Genetics170 citations Open access
Semantic Scholar
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease
Yuan-Yuan Gu, Isaac T. W. Harley, Lindsay B. Henderson, B. Aronow +19 more
2009Nature137 citations Open access
Semantic Scholar
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures
Vincenzo A. Gennarino, E. Palmer, Laura M McDonell, Li Wang +37 more
2018Cell130 citations Open access
Semantic Scholar
Recessive mutations in VPS13D cause childhood onset movement disorders
J. Gauthier, I. Meijer, D. Lessel, N. Mencacci +19 more
2018Annals of Neurology117 citations Open access
Semantic Scholar
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
Deanna M. Green, Kathryn Mcdougal, S. Blackman, Patrick Ryan Sosnay +4 more
2010Respiratory Research95 citations Open access
Semantic Scholar
De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism
Lin-Shan Shang, Lindsay B. Henderson, M. Cho, Donald S. Petrey +15 more
2015Neurogenetics85 citations Open access
Semantic Scholar
The impact of chromosomal microarray on clinical management: a retrospective analysis
Lindsay B. Henderson, C. Applegate, Elizabeth Wohler, Molly B. Sheridan +2 more
2014Genetics in Medicine84 citations Open access
Semantic Scholar
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Y. Yoo, Jane Jung, Yoo-Na Lee, Youngha Lee +31 more
2017Annals of Neurology83 citations Open access
Semantic Scholar
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
V. Okur, M. Cho, Lindsay B. Henderson, K. Retterer +16 more
2016Human Genetics78 citations
Semantic Scholar
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
S. Efthymiou, V. Salpietro, Nancy T. Malintan, M. Poncelet +90 more
2019Brain : a journal of neurology66 citations Open access
Semantic Scholar
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
Genay O. Pilarowski, H. Vernon, C. Applegate, Leandros Boukas +15 more
2017Journal of Medical Genetics60 citations Open access
Semantic Scholar
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
A. Manole, S. Efthymiou, E. O’Connor, Marisa I. Mendes +88 more
2020American Journal of Human Genetics56 citations Open access
Semantic Scholar
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
K. Weiss, Kristen M. Wigby, M. Fannemel, Lindsay B. Henderson +10 more
2017European Journal of Human Genetics48 citations Open access
Semantic Scholar
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
C. Mak, D. Doherty, A. Lin, N. Vegas +78 more
2019Brain : a journal of neurology47 citations Open access
Semantic Scholar
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
K. Gripp, S. Smithson, I. Scurr, Julia Baptista +15 more
2021European Journal of Human Genetics43 citations Open access
Semantic Scholar
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
H. McMillan, A. Telegrafi, A. Singleton, M. Cho +26 more
2018Orphanet Journal of Rare Diseases41 citations Open access
Semantic Scholar
Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features
Hallie Steinfeld, M. Cho, K. Retterer, R. Person +12 more
2016Neurogenetics41 citations Open access
Semantic Scholar
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Dara Tolchin, J. P. Yeager, Priya Prasad, N. Dorrani +115 more
2020American Journal of Human Genetics32 citations Open access
Semantic Scholar
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
Kathryn Mcdougal, Deanna M. Green, L. Vanscoy, M. D. Fallin +7 more
2010European Journal of Human Genetics32 citations Open access
Semantic Scholar
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Kevin E. Glinton, A. Hurst, Kevin M. Bowling, I. Cristian +44 more
2021American Journal of Medical Genetics. Part A28 citations Open access
Semantic Scholar
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
A. Deshwar, C. Cytrynbaum, Harsha R. Murthy, Jessica Zon +41 more
2022Brain : a journal of neurology25 citations Open access
Semantic Scholar
Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis
Lindsay B. Henderson, Vishal K. Doshi, S. Blackman, K. Naughton +6 more
2012PLoS Genetics25 citations Open access
Semantic Scholar
Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis.
S. Harada, Lindsay B. Henderson, J. Eshleman, C. Gocke +3 more
2011Journal of Molecular Diagnostics25 citations Open access
Semantic Scholar
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission
K. Platzer, H. Sticht, Caleb P. Bupp, M. Ganapathi +9 more
2022Annals of Neurology24 citations Open access
Semantic Scholar
Large ABCA3 and SFTPC deletions resulting in lung disease.
Lindsay B. Henderson, Kristin Melton, S. Wert, J. Couriel +3 more
2013Annals of the American Thoracic Society23 citations Open access
Semantic Scholar
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
E. Palmer, Seungbeom Hong, Fatema Al Zahrani, M. Hashem +39 more
2019American Journal of Human Genetics22 citations Open access
Semantic Scholar
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, H. Tajsharghi, E. G. Karimiani +97 more
2023Brain : a journal of neurology13 citations Open access
Semantic Scholar
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
U. Hüffmeier, C. Kraus, M. Reuter, S. Uebe +35 more
2021Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.
L. Cross, K. McWalter, Jennifer Keller-Ramey, Lindsay B. Henderson +1 more
2020Clinical Dysmorphology10 citations
Semantic Scholar
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
Amanda Thomas-Wilson, J. Schacht, D. Chitayat, S. Blaser +16 more
2023American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
Tessi Beyltjens, E. Boudin, N. Revencu, N. Boeckx +17 more
2022Journal of Medical Genetics9 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
IFRD1 polymorphisms in cystic fibrosis with potential link to altered neutrophil function
Yuan-Yuan Gu, Isaac T. W. Harley, Lindsay B. Henderson, B. Aronow +19 more
2009Nature9 citations Open access
Semantic Scholar
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
E. Palmer, Seungbeom Hong, Fatema Al Zahrani, M. Hashem +39 more
2019American Journal of Human Genetics5 citations Open access
Semantic Scholar
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
B. Webb, A. Evans, T. Naidich, L. Bird +10 more
2021Human Mutation4 citations Open access
Semantic Scholar
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation
B. McGivern, T. Holling, M. J. Guillen Sacoto, H. Gudbjartsson +19 more
2025HGG advances2 citations Open access
Semantic Scholar
Author response for "Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants"
Eva Z. Jacobs, K. Brown, M. Byler, E. D'Haenens +17 more
20201 citations Open access
Semantic Scholar
First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
Lindsay B. Henderson, V. Corson, Daniel O. Saul, Cynthia Anderson +4 more
2013Case Reports in Genetics1 citations Open access
Semantic Scholar
P583: Four cases of mosaic triploidy identified by trio exome sequencing
Wen Wang, Lindsay B. Henderson, Julie Scuffins, L. Dyer +5 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss
Yoel Hirsch, Wendy K. Chung, S. Novoselov, L. Weimer +10 more
2023International Journal of Molecular Sciences0 citations Open access
Semantic Scholar
Table of Contents, Volume 185A, Number 5, May 2021
John M. Opitz, A. Maulisová, Petrashevich La, uthová +26 more
2021American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission
K. Platzer, H. Sticht, Caleb P. Bupp, M. Ganapathi +8 more
2021medRxiv0 citations Open access
Semantic Scholar
EIF3F-related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum
Ulrike Hueffmeier, C. Kraus, M. Reuter, S. Uebe +36 more
20200 citations Open access
Semantic Scholar
OP-BRAI190255 2948..2964
S. Efthymiou, V. Salpietro, Nancy T. Malintan, M. Poncelet +32 more
20190 citations
Semantic Scholar
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
V. Okur, M. Cho, Lindsay B. Henderson, K. Retterer +16 more
2016Human Genetics0 citations
Semantic Scholar
Genetic modifiers of cystic fibrosis pulmonary and intestinal phenotypes
Lindsay B. Henderson
20100 citations
Semantic Scholar

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