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David R FitzPatrick

Showing results (121-130 of 144) with videos related to

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Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
European Journal of Human Genetics : EJHG|September 16, 2004
An excess of chromosome 1 breakpoints in male infertilityIben Bache, Elvire Van Assche, Sultan Cingoz, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Pageof 15

Showing results (121-130 of 144) with videos related to

Sort By:
Pageof 15
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
European Journal of Human Genetics : EJHG|September 16, 2004
An excess of chromosome 1 breakpoints in male infertilityIben Bache, Elvire Van Assche, Sultan Cingoz, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Pageof 15