Lindsay B. Henderson

发表

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Michael R Knowles, Pierre-Yves Boëlle, Fred A Wright, 2012, Nature Genetics.

Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis.

J. Eshleman, D. Batista, C. Griffin, 2011, The Journal of molecular diagnostics : JMD.

Large ABCA3 and SFTPC deletions resulting in lung disease.

A. Bush, J. Couriel, S. Wert, 2013, Annals of the American Thoracic Society.

Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis

M. Drumm, G. Cutting, M. Knowles, 2012, PLoS genetics.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

E. van Binsbergen, J. Baptista, K. Gripp, 2021, European Journal of Human Genetics.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

G. Mortier, B. Peterlin, T. Haack, 2022, Journal of Medical Genetics.

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

R. Abou Jamra, H. Sticht, H. Taschenberger, 2022, Annals of neurology.

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

H. Sticht, H. Taschenberger, N. Brose, 2021, medRxiv.

Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients

G. Cutting, P. Sosnay, J. Collaco, 2010, Respiratory research.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

I. Krantz, L. Medne, E. Beaver, 2017, Journal of Medical Genetics.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

The impact of chromosomal microarray on clinical management: a retrospective analysis

J. Hoover-Fong, Elizabeth S Wohler, Molly B. Sheridan, 2014, Genetics in Medicine.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

M. Parker, J. Humberson, A. Vanlander, 2020, Clinical genetics.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Sharyn A. Lincoln, W. Chung, M. Tarnopolsky, 2016, Human Genetics.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

Lindsay B. Henderson, K. McWalter, Jennifer Keller-Ramey, 2020, Clinical dysmorphology.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

P. Stankiewicz, K. Bowling, Yaping Yang, 2021, American journal of medical genetics. Part A.

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

K. Brennand, E. Schadt, T. Naidich, 2021, Human mutation.

Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

M. Drumm, B. Aronow, C. Langefeld, 2009, Nature.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

A. Hamosh, Marilyn C. Jones, P. Kruszka, 2017, European Journal of Human Genetics.

IFRD1 polymorphisms in cystic fibrosis with potential link to altered neutrophil function

M. Drumm, B. Aronow, C. Langefeld, 2009, Nature.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, Brain : a journal of neurology.

OP-BRAI190255 2948..2964

Nancy T. Malintan, M. Ryten, N. Boddaert, 2019 .

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

W. Chung, S. B. Wechsler, R. Person, 2016, neurogenetics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

K. Blakemore, D. Batista, Cheryl Descipio, 2013, Case reports in genetics.

Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis

Suzanne Cheng, M. Grow, M. Fallin, 2010, European Journal of Human Genetics.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

D. Chitayat, T. Roscioli, Futao Zhang, 2023, American journal of medical genetics. Part A.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

A. Singleton, T. Rinne, J. Christodoulou, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

S. Nelson, M. Reuter, J. Martinez-Agosto, 2021, Orphanet Journal of Rare Diseases.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

G. Schiavo, Wendy K. Chung, A. Rossor, 2023, International journal of molecular sciences.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.