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mutation (5) 5
humans (4) 4
science & technology (4) 4
genetic diversity (3) 3
heredity (3) 3
multidisciplinary sciences (3) 3
neurodevelopmental disorders (3) 3
science (3) 3
science & technology - other topics (3) 3
author (2) 2
author correction (2) 2
bias (2) 2
developmental disabilities - genetics (2) 2
disorders (2) 2
dna helicase (2) 2
female (2) 2
genes (2) 2
genetic variation (2) 2
genetics (2) 2
genomes (2) 2
male (2) 2
mutation rate (2) 2
mutation rates (2) 2
pedigree (2) 2
research (2) 2
animal models (1) 1
animals (1) 1
anthropology (1) 1
architecture (1) 1
biochemistry & molecular biology (1) 1
biotechnology & applied microbiology (1) 1
cell division (1) 1
cell division - genetics (1) 1
child (1) 1
child development deviations (1) 1
chromatin remodelling (1) 1
chromosomes, human, x - genetics (1) 1
clinical epigenetics (1) 1
datasets as topic (1) 1
deoxyribonucleic acid--dna (1) 1
developmental disabilities (1) 1
disease genetics (1) 1
divergence (1) 1
dna mutational analysis (1) 1
dna-directed dna polymerase (1) 1
electronic data processing (1) 1
embryogenesis (1) 1
embryonic development - genetics (1) 1
embryonic growth stage (1) 1
embryos (1) 1
exome (1) 1
eye diseases (1) 1
family (1) 1
family trees (1) 1
gametogenesis (1) 1
gametogenesis - genetics (1) 1
gene mutations (1) 1
gene sequencing (1) 1
genealogy (1) 1
genealogy and heraldry (1) 1
genes, recessive (1) 1
genes, x-linked (1) 1
genetic aspects (1) 1
genetic association study (1) 1
genetic diseases, x-linked - genetics (1) 1
genetic effects (1) 1
genetic research (1) 1
genetic structures (1) 1
genetics & heredity (1) 1
genome (1) 1
genome-wide association studies (1) 1
germ cells - cytology (1) 1
germ cells - metabolism (1) 1
germ-line mutation (1) 1
heritability (1) 1
inheritance patterns - genetics (1) 1
life sciences & biomedicine (1) 1
life span (1) 1
longevity (1) 1
males (1) 1
maternal age (1) 1
medical genetics (1) 1
methods (1) 1
mice (1) 1
migration (1) 1
models, genetic (1) 1
multifactorial inheritance - genetics (1) 1
mutation - genetics (1) 1
mutation, missense (1) 1
nucleotides (1) 1
offspring (1) 1
paternal age (1) 1
pathogenicity (1) 1
patients (1) 1
phenotype (1) 1
polygenic inheritance (1) 1
polymorphism, single nucleotide (1) 1
population (1) 1
proteins (1) 1
quantitative analysis (1) 1
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1. Full Text Quantitative analysis of population-scale family trees with millions of relatives
by Kaplanis, Joanna and Gordon, Assaf and Shor, Tal and Weissbrod, Omer and Geiger, Dan and Wahl, Mary and Gershovits, Michael and Markus, Barak and Sheikh, Mona and Gymrek, Melissa and Bhatia, Gaurav and MacArthur, Daniel G and Price, Alkes L and Erlich, Yaniv
Science (American Association for the Advancement of Science), ISSN 0036-8075, 04/2018, Volume 360, Issue 6385, pp. 171 - 175
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Datasets as Topic | Pedigree | Humans | Family | Population | Models, Genetic | Longevity | Genealogy and Heraldry | Technology application | Electronic data processing | Genealogy | Methods | Trees | Architecture | Transportation | Migration | Anthropology | Heredity | Genetic diversity | Family trees | Genetic effects | Life span | Genetics | Heritability | Quantitative analysis | Index Medicus
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2. Full Text Similarities and differences in patterns of germline mutation between mice and humans
by Lindsay, Sarah J and Rahbari, Raheleh and Kaplanis, Joanna and Keane, Thomas and Hurles, Matthew E
Nature communications, ISSN 2041-1723, 09/2019, Volume 10, Issue 1, pp. 4053 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Division - genetics | Gametogenesis - genetics | Species Specificity | Paternal Age | Humans | Embryonic Development - genetics | Male | Mutation Rate | Whole Genome Sequencing - methods | Animals | Maternal Age | Pedigree | Germ-Line Mutation | Female | Germ Cells - cytology | Mice | Germ Cells - metabolism | Gametogenesis | Bias | Cell division | Genomes | Mutation rates | Embryos | Gene sequencing | Embryonic growth stage | Embryogenesis | Offspring | Mutation | Species | Index Medicus | Genome | Genetic variation
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3. Full Text Quantifying the contribution of recessive coding variation to developmental disorders
by Martin, Hilary C and Jones, Wendy D and McIntyre, Rebecca and Sanchez-Andrade, Gabriela and Sanderson, Mark and Stephenson, James D and Jones, Carla P and Handsaker, Juliet and Gallone, Giuseppe and Bruntraeger, Michaela and McRae, Jeremy F and Prigmore, Elena and Short, Patrick and Niemi, Mari and Kaplanis, Joanna and Radford, Elizabeth J and Akawi, Nadia and Balasubramanian, Meena and Dean, John and Horton, Rachel and Hulbert, Alice and Johnson, Diana S and Johnson, Katie and Kumar, Dhavendra and Lynch, Sally Ann and Mehta, Sarju G and Morton, Jenny and Parker, Michael J and Splitt, Miranda and Turnpenny, Peter D and Vasudevan, Pradeep C and Wright, Michael and Bassett, Andrew and Gerety, Sebastian S and Wright, Caroline F and FitzPatrick, David R and Firth, Helen V and Hurles, Matthew E and Barrett, Jeffrey C and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and on behalf of the Deciphering Developmental Disorders Study
Science (American Association for the Advancement of Science), ISSN 0036-8075, 12/2018, Volume 362, Issue 6419, pp. 1161 - 1164
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genome-wide association studies | Gene mutations | Child development deviations | Genetic research | Genetic aspects | Research | Developmental disabilities | Proteins | Animal models | Genes | Disorders | Genetics | Heredity | Genomes | Genetic diversity | Mutation | Patients | Polygenic inheritance | Index Medicus
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4. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 1 - 4
DNA helicase | Neurodevelopmental disorders | Mutation | Author
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5. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 2079
DNA helicase | Neurodevelopmental disorders | Mutation | Author | Clinical epigenetics | Disease genetics | Chromatin remodelling
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6. Full Text Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
by Kaplanis, Joanna and Akawi, Nadia and Gallone, Giuseppe and McRae, Jeremy F and Prigmore, Elena and Wright, Caroline F and Fitzpatrick, David R and Firth, Helen V and Barrett, Jeffrey C and Hurles, Matthew E and Deciphering Dev Disorders Study and Deciphering Developmental Disorders study and on behalf of the Deciphering Developmental Disorders study
Genome research, ISSN 1088-9051, 07/2019, Volume 29, Issue 7, pp. 1047 - 1056
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Exome | DNA Mutational Analysis | Humans | Mutation Rate | Developmental Disabilities - genetics | Polymorphism, Single Nucleotide | Mutation | Mutation, Missense | Nucleotides | Child | Pathogenicity | Mutation rates | Divergence | DNA-directed DNA polymerase | Deoxyribonucleic acid--DNA | Index Medicus | Research
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7. Full Text The contribution of X-linked coding variation to severe developmental disorders
by Martin, Hilary C and Gardner, Eugene J and Samocha, Kaitlin E and Kaplanis, Joanna and Akawi, Nadia and Sifrim, Alejandro and Eberhardt, Ruth Y and Tavares, Ana Lisa Taylor and Neville, Matthew D C and Niemi, Mari E K and Gallone, Giuseppe and McRae, Jeremy and Wright, Caroline F and FitzPatrick, David R and Firth, Helen V and Hurles, Matthew E and Deciphering Developmental Disorders Study
Nature communications, 01/2021, Volume 12, Issue 1, pp. 627 - 627
Multifactorial Inheritance - genetics | Chromosomes, Human, X - genetics | Humans | Male | Developmental Disabilities - genetics | Sex Characteristics | Mutation - genetics | Genes, Recessive | Genetic Variation | Phenotype | Genes, X-Linked | Inheritance Patterns - genetics | Female | Genetic Diseases, X-Linked - genetics | Statistical analysis | Bias | Genes | Disorders | Heredity | Genetic diversity | Males | Variation | Index Medicus | Genetic association study | Neurodevelopmental disorders | Medical genetics
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