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Undiagnosed Diseases Network
171  results:
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1

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; O'Leary, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  3 - p. 629-640 , 2024
Link: https://doi.org/10.1002/..
 
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2

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 1075-1079 , 2024
Link: https://doi.org/10.1002/..
 
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3

Immunological and hematological findings as major features ..:

Stellacci, Emilia ; Carter, Jennefer N. ; Pannone, Luca...
American Journal of Medical Genetics Part A.  194 (2024)  8 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Undiagnosed Disease Network collaborative approach in diagn..:

Ezell, Kimberly M. ; Tinker, Rory J. ; Furuta, Yutaka...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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5

Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:

Brooks, Daniel ; Burke, Elizabeth ; Lee, Sukyeong...
Human Genetics.  143 (2024)  3 - p. 279-291 , 2024
Link: https://doi.org/10.1007/..
 
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6

Reanalysis of RNA sequencing data ends diagnostic odyssey a..:

McNamee, Lucy ; Schoch, Kelly ; Huang, Alden...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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7

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary c..:

Forghani, Irman ; Lang, Steven H. ; Rodier, Matthew J....
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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8

Novel molecular mechanism in Malan syndrome uncovered throu..:

Zhao, Jian ; Longo, Nicola ; Lewis, Robert G....
American Journal of Medical Genetics Part A.  194 (2024)  5 - p. , 2024
Link: https://doi.org/10.1002/..
 
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9

Burden re-analysis of neurodevelopmental disorder cohorts f..:

Smal, Noor ; Majdoub, Fatma ; Janssens, Katrien...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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10

A second hotspot for pathogenic exon-skipping variants in C..:

Schoch, Kelly ; Ruegg, Mischa S. G. ; Fellows, Bridget J....
European Journal of Human Genetics.  32 (2024)  7 - p. 786-794 , 2024
Link: https://doi.org/10.1038/..
 
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11

A medical odyssey of a 72‐year‐old man with Charcot–Marie–T..:

Furuta, Yutaka ; Nelson, Erica T. ; Neumann, Serena M....
American Journal of Medical Genetics Part A.  191 (2023)  12 - p. 2873-2877 , 2023
Link: https://doi.org/10.1002/..
 
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12

A Case Study of Dysfunctional Nicotinamide Metabolism in a ..:

DeBalsi, Karen L. ; Newman, John H. ; Sommerville, Laura J....
Metabolites.  13 (2023)  3 - p. 399 , 2023
Link: https://doi.org/10.3390/..
 
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13

De novo missense variants in ZBTB47 are associated with dev..:

Ward, Scott K. ; Wadley, Alexandrea ; Tsai, Chun‐hui (Anne)...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 17-30 , 2023
Link: https://doi.org/10.1002/..
 
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14

Simulation of undiagnosed patients with novel genetic condi..:

Alsentzer, Emily ; Finlayson, Samuel G. ; Li, Michelle M....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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15

H4C5 missense variant leads to a neurodevelopmental phenoty..:

Borja, Nicholas ; Borjas‐Mendoza, Paulo ; Bivona, Stephanie...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1911-1916 , 2023
Link: https://doi.org/10.1002/..
 
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