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Nelson-Williams, Carol
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1

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein K..:

Khoshkhoo, Sattar ; Wang, Yilan ; Chahine, Yasmine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152377/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dys..:

Singh, Amrita K ; Viviano, Stephen ; Allington, Garrett...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055611/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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3

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J ; Allington, Garrett ; McGee, Stephen...
https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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4

Genetic dysregulation of an endothelial Ras signaling netwo..:

Zhao, Shujuan ; Mekbib, Kedous Y ; van der Ent, Martijn A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055230/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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5

Impaired neurogenesis alters brain biomechanics in a neurop..:

Duy, Phan Q ; Weise, Stefan C ; Marini, Claudia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664907/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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6

The Genomic and Phenotypic Landscape of Ichthyosis: An Anal..:

Sun, Qisi ; Burgren, Nareh M ; Cheraghlou, Shayan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8637393/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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7

DIAPH1 Variants in Non–East Asian Patients With Sporadic Mo..:

Kundishora, Adam J ; Peters, Samuel T ; Pinard, Amélie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204259/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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8

Exome Sequencing as a Potential Diagnostic Adjunct in Spora..:

Sullivan, William ; Reeves, Benjamin C ; Duy, Phan Q...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670396/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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9

Exome sequencing implicates genetic disruption of prenatal ..:

Jin, Sheng Chih ; Dong, Weilai ; Kundishora, Adam J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871900/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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10

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mut..:

Elfert, Khaled A ; Geller, David S ; Nelson-Williams, Carol...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534490/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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11

Organic Solute Transporter Alpha Deficiency: A Disorder Wit..:

Gao, Emily ; Cheema, Huma ; Waheed, Nadia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8577800/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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12

Exome Sequencing Implicates Impaired GABA Signaling and Neu..:

Dong, Weilai ; Jin, Sheng Chih ; Allocco, August...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554653/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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13

Distal hereditary motor neuronopathy of the Jerash type is ..:

Ververis, Antonis ; Dajani, Rana ; Koutsou, Pantelitsa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042970/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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14

Exome Sequencing Implicates Impaired GABA Signaling and Neu..:

Dong, Weilai ; Jin, Sheng Chih ; Allocco, August...
iScience.  , 2020
Link: http://hdl.handle.net/10..
 
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15

Mutations in Chromatin Modifier and Ephrin Signaling Genes ..:

Duran, Daniel ; Zeng, Xue ; Jin, Sheng Chih...
boreal:214627.  , 2019
Link: http://hdl.handle.net/20..
 
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