Research output per year
Research output per year
Personal profile
Research interests
Development genetics of the germ cells, including germline stem cells, meiotic prophase entry and progression and gametogenesis.
The use of the C. elegans system to model human disease and test the functional significance of human coding sequence variation.
Available to Mentor:
- PhD/MSTP Students
Fingerprint
Dive into the research topics where Tim Schedl is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Undiagnosed Diseases Network, Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Deciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network, Feb 2024, In: Genetics in Medicine. 26, 2, 101023.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
Undiagnosed Diseases Network, Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.Research output: Contribution to journal › Article › peer-review
-
De novo variants in DENND5B cause a neurodevelopmental disorder
Undiagnosed Diseases Network, Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
Undiagnosed Diseases Network, Jun 2024, In: American Journal of Medical Genetics, Part A. 194, 6, e63556.Research output: Contribution to journal › Article › peer-review