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Bhoj, Elizabeth J.
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1

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences.  121 (2024)  12 - p. , 2024
Link: https://doi.org/10.1073/..
 
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2

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation.  134 (2024)  1 - p. , 2024
Link: https://doi.org/10.1172/..
 
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3

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics.  111 (2024)  2 - p. 364-382 , 2024
Link: https://doi.org/10.1016/..
 
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4

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108328 , 2024
Link: https://doi.org/10.1016/..
 
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5

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmenta..:

Gracia-Diaz, Carolina ; Perdomo, Jonathan E. ; Khan, Munir E....
Cell Stem Cell.  31 (2024)  3 - p. 288-289 , 2024
Link: https://doi.org/10.1016/..
 
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6

BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMEN..:

Disanza, Brianna ; Angireddy, Rajesh ; Welter, Emma...
IBRO Neuroscience Reports.  15 (2023)  - p. S86-S87 , 2023
Link: https://doi.org/10.1016/..
 
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7

P154: A truncating variant in RFX7 causing developmental de..:

Dos Santos, Attila ; Sisroe, Talia ; Li, Dong...
Genetics in Medicine Open.  1 (2023)  1 - p. 100183 , 2023
Link: https://doi.org/10.1016/..
 
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8

P325: A homozygous novel pathogenic variant in SYNJ1 and it..:

Taylor, Christie ; Maj, Mary ; Landau, Kevin...
Genetics in Medicine Open.  1 (2023)  1 - p. 100353 , 2023
Link: https://doi.org/10.1016/..
 
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9

Listening to patients with suspected genetic diagnoses: A n..:

Slocum, Robert B. ; Hurst, Anna C. E. ; Shelley, Ellis...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2023
Link: https://doi.org/10.1002/..
 
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10

Genomic sequencing in a cohort of individuals with fibular ..:

Matalon, Dena R. ; Bhoj, Elizabeth J. ; Li, Dong...
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 977-982 , 2023
Link: https://doi.org/10.1002/..
 
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11

A mutational hotspot in AMOTL1 defines a new syndrome of or..:

Strong, Alanna ; Rao, Soumya ; von Hardenberg, Sandra...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1227-1239 , 2023
Link: https://doi.org/10.1002/..
 
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12

P311: A 7.4 Mb duplication of 6p22.1-22.3 in a cognitively ..:

Sobering, Andrew ; Keesee, Victor ; Amellal, Yasseen...
Genetics in Medicine Open.  1 (2023)  1 - p. 100339 , 2023
Link: https://doi.org/10.1016/..
 
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13

Heterozygous variants in TBCK cause a mild neurologic syndr..:

Nair, Divya ; Diaz‐Rosado, Abdias ; Varella‐Branco, Elisa...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2508-2517 , 2023
Link: https://doi.org/10.1002/..
 
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P312: Expanding the phenotypic description and allelic hete..:

Daniels, Kadesh ; Board, Sarah ; Brown, Courtney...
Genetics in Medicine Open.  1 (2023)  1 - p. 100340 , 2023
Link: https://doi.org/10.1016/..
 
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15

Histone 3.3-related chromatinopathy: missense variants thro..:

Bryant, Laura ; Sangree, Annabel ; Clark, Kelly.
Human Genetics.  143 (2023)  4 - p. 497-510 , 2023
Link: https://doi.org/10.1007/..
 
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