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European Journal of Human Genetics : EJHG
|
October 15, 2025
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula
Shuxiang Goh, Tracy Dudding-Byth, Mark Pinese, et al.
Genes
|
August 28, 2025
<i>CRELD1</i>-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families
Jessica Archer, Shuxiang Goh, Christina Miteff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2024
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
Shuxiang Goh, Lavvina Thiyagarajan, Tracy Dudding-Byth, et al.
American Journal of Medical Genetics. Part A
|
October 25, 2022
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
Jessica L Sandy, Darazel Perez, Shuxiang Goh, et al.
Children (Basel, Switzerland)
|
February 2, 2021
Familial and Genetic Influences on the Common Pediatric Primary Pain Disorders: A Twin Family Study
David Champion, Minh Bui, Aneeka Bott, et al.
Paediatric & Neonatal Pain
|
June 20, 2022
Improved definition of growing pains: A common familial primary pain disorder of early childhood
G David Champion, Minh Bui, Sara Sarraf, et al.
EMBO Molecular Medicine
|
December 15, 2025
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA
Brett W Stringer, Yougang Zhang, Afsaneh Taghipour-Sheshdeh, et al.
The Clinical Journal of Pain
|
March 9, 2017
Common Pediatric Pain Disorders and Their Clinical Associations
Theresa J Donnelly, Aneeka Bott, Minh Bui, et al.
Sleep Medicine
|
September 20, 2020
Contrasting painless and painful phenotypes of pediatric restless legs syndrome: a twin family study
David Champion, Minh Bui, Phillip Aouad, et al.
American Journal of Human Genetics
|
February 13, 2026
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
Brunhilde Wirth, Joyosmita Das, Heike Kölbel, et al.
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Search research articles
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Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
European Journal of Human Genetics : EJHG
|
October 15, 2025
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula
Shuxiang Goh, Tracy Dudding-Byth, Mark Pinese, et al.
Genes
|
August 28, 2025
<i>CRELD1</i>-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families
Jessica Archer, Shuxiang Goh, Christina Miteff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2024
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
Shuxiang Goh, Lavvina Thiyagarajan, Tracy Dudding-Byth, et al.
American Journal of Medical Genetics. Part A
|
October 25, 2022
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
Jessica L Sandy, Darazel Perez, Shuxiang Goh, et al.
Children (Basel, Switzerland)
|
February 2, 2021
Familial and Genetic Influences on the Common Pediatric Primary Pain Disorders: A Twin Family Study
David Champion, Minh Bui, Aneeka Bott, et al.
Paediatric & Neonatal Pain
|
June 20, 2022
Improved definition of growing pains: A common familial primary pain disorder of early childhood
G David Champion, Minh Bui, Sara Sarraf, et al.
EMBO Molecular Medicine
|
December 15, 2025
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA
Brett W Stringer, Yougang Zhang, Afsaneh Taghipour-Sheshdeh, et al.
The Clinical Journal of Pain
|
March 9, 2017
Common Pediatric Pain Disorders and Their Clinical Associations
Theresa J Donnelly, Aneeka Bott, Minh Bui, et al.
Sleep Medicine
|
September 20, 2020
Contrasting painless and painful phenotypes of pediatric restless legs syndrome: a twin family study
David Champion, Minh Bui, Phillip Aouad, et al.
American Journal of Human Genetics
|
February 13, 2026
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
Brunhilde Wirth, Joyosmita Das, Heike Kölbel, et al.
Page
of 2