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Erica E Davis

Showing results (71-80 of 125) with videos related to

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American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.
Human Molecular Genetics|July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociErica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.
American Journal of Human Genetics|August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
Pageof 13

Showing results (71-80 of 125) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.
Human Molecular Genetics|July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociErica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.
American Journal of Human Genetics|August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
Pageof 13