Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Burton JL(2007)Clinical, educational, and epidemiological value of autopsy Lancet 369 1471-1480

Underwood J(2018)Molecular autopsy in maternal–fetal medicine Genet Med 20 420-427

Shamseldin HE(2019)Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies Genet Med 21 1065-1073

Kurdi W(2018)Emerging and evolving concepts in gene essentiality Nat Rev Genet 19 34-423

Almusafri F(2017)The population genetics of human disease: the case of recessive, lethal mutations PLoS Genet 13 405-D419

Alnemer M(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 D412-2242

Alkaff A(2021)Author correction: the mutational constraint spectrum quantified from variation in 141,456 humans Nature 590 2235-1201

Babay Z(2021)Pfam: the protein families database in 2021 Nucleic Acids Res 49 1182-306

Quinlan-Jones E(2015)ClinGen--the clinical genome resource N Engl J Med 372 297-10

Lord J(2019)Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population Am J Hum Genet 104 1-188

Burton JL(2007)Clinical, educational, and epidemiological value of autopsy Lancet 369 1471-1480

Underwood J(2018)Molecular autopsy in maternal–fetal medicine Genet Med 20 420-427

Shamseldin HE(2019)Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies Genet Med 21 1065-1073

Kurdi W(2018)Emerging and evolving concepts in gene essentiality Nat Rev Genet 19 34-423

Almusafri F(2017)The population genetics of human disease: the case of recessive, lethal mutations PLoS Genet 13 405-D419

Alnemer M(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 D412-2242

Alkaff A(2021)Author correction: the mutational constraint spectrum quantified from variation in 141,456 humans Nature 590 2235-1201

Babay Z(2021)Pfam: the protein families database in 2021 Nucleic Acids Res 49 1182-306

Quinlan-Jones E(2015)ClinGen--the clinical genome resource N Engl J Med 372 297-10

Lord J(2019)Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population Am J Hum Genet 104 1-188