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Ladda, Roger
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1

P159: Variants in cohesin release factors WAPL, PDS5A, and ..:

Boone, Philip ; Faour, Kamli ; Mohajeri, Kiana...
Genetics in Medicine Open.  1 (2023)  1 - p. 100188 , 2023
Link: https://doi.org/10.1016/..
 
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2

POLR1A variants underlie phenotypic heterogeneity in cranio..:

Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru...
The American Journal of Human Genetics.  110 (2023)  5 - p. 809-825 , 2023
Link: https://doi.org/10.1016/..
 
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3

Clinical features, functional consequences, and rescue phar..:

Allen, James P ; Garber, Kathryn B ; Perszyk, Riley...
Human Molecular Genetics.  33 (2023)  4 - p. 355-373 , 2023
Link: https://doi.org/10.1093/..
 
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4

Börjeson–Forssman–Lehmann syndrome: delineating the clinica..:

Jain, Vani ; Foo, Seow Hoong ; Chooi, Stephen...
European Journal of Human Genetics.  31 (2023)  12 - p. 1421-1429 , 2023
Link: https://doi.org/10.1038/..
 
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5

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in..:

Mittal, Rea ; Kumar, Ashutosh ; Ladda, Roger..
Child Neurology Open.  8 (2021)  - p. 2329048X2110553 , 2021
Link: https://doi.org/10.1177/..
 
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6

Novel Heterozygous Calcium Sensing Receptor (CASR) Genetic ..:

Legro, Nicole ; Kees-Folts, Deborah ; Ladda, Roger.
Journal of the Endocrine Society.  5 (2021)  Supplement_1 - p. A703-A703 , 2021
Link: https://doi.org/10.1210/..
 
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7

Correction to: An autosomal dominant neurological disorder ..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Genetics in Medicine.  23 (2021)  12 - p. 2467 , 2021
Link: https://doi.org/10.1038/..
 
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8

An autosomal dominant neurological disorder caused by de no..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Genetics in Medicine.  23 (2021)  4 - p. 740-750 , 2021
Link: https://doi.org/10.1038/..
 
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9

PIGG variant pathogenicity assessment reveals characteristi..:

Tremblay-Laganière, Camille ; Maroofian, Reza ; Nguyen, Thi Tuyet Mai...
Genetics in Medicine.  23 (2021)  10 - p. 1873-1881 , 2021
Link: https://doi.org/10.1038/..
 
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10

Pitt Hopkins-Like Syndrome 1 with novel CNTNAP2 mutation in..:

Mittal, Rea ; Alieue, Erma ; Mainali, Gayatra..
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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11

Redefining the Etiologic Landscape of Cerebellar Malformati..:

Aldinger, Kimberly A. ; Timms, Andrew E. ; Thomson, Zachary...
The American Journal of Human Genetics.  105 (2019)  3 - p. 606-615 , 2019
Link: https://doi.org/10.1016/..
 
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12

Update on the ACTG1‐associated Baraitser–Winter cerebrofron..:

Di Donato, Nataliya ; Kuechler, Alma ; Vergano, Samantha...
American Journal of Medical Genetics Part A.  170 (2016)  10 - p. 2644-2651 , 2016
Link: https://doi.org/10.1002/..
 
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13

Trisomy 12 and Triploidy in an Infant: An Unusual Case of D..:

Matyakhina, Ludmila ; Wray, Andrea ; Ladda, Roger L...
Cancer Genetics.  209 (2016)  5 - p. 248-249 , 2016
Link: https://doi.org/10.1016/..
 
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14

Case Report: Genetic analysis and anesthetic management of ..:

Dalal, Priti G. ; Coleman, Melissa ; Horst, Meagan...
F1000Research.  4 (2015)  - p. 1423 , 2015
Link: https://doi.org/10.12688..
 
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15

The duplication 17p13.3 phenotype: Analysis of 21 families ..:

Curry, Cynthia J. ; Rosenfeld, Jill A. ; Grant, Erica...
American Journal of Medical Genetics Part A.  161 (2013)  8 - p. 1833-1852 , 2013
Link: https://doi.org/10.1002/..
 
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