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1. Full Text Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
by Tham, Emma and Lindstrand, Anna and Santani, Avni and Malmgren, Helena and Nesbitt, Addie and Dubbs, Holly A and Zackai, Elaine H and Parker, Michael J and Millan, Francisca and Rosenbaum, Kenneth and Wilson, Golder N and Nordgren, Ann
American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 507 - 513
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Infant | Male | Genetic Loci | Intellectual Disability - genetics | Exome | Phenotype | Comparative Genomic Hybridization | Pedigree | Gene Deletion | Histone Acetyltransferases - metabolism | Adolescent | Female | Heterozygote | Mutation | Child | Causes of | Genetic research | Genetic aspects | Research | Gene mutations | Mental retardation | Genotype & phenotype | Learning disabilities | Genomics | Index Medicus | Report | Medicin och hälsovetenskap
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2. Full Text Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
by Schneider, Maude and Debbané, Martin and Bassett, Anne S and Chow, Eva W.C and Fung, Wai Lun Alan and van den Bree, Marianne B.M and Owen, Michael and Murphy, Kieran C and Niarchou, Maria and Kates, Wendy R and Antshel, Kevin M and Fremont, Wanda and McDonald-McGinn, Donna M and Gur, Raquel E and Zackai, Elaine H and Vorstman, Jacob and Duijff, Sasja N and Klaassen, Petra W.J and Swillen, Ann and Gothelf, Doron and Green, Tamar and Weizman, Abraham and Van Amelsvoort, Therese and Evers, Laurens and Boot, Erik and Shashi, Vandana and Hooper, Stephen R and Bearden, Carrie E and Jalbrzikowski, Maria and Armando, Marco and Vicari, Stefano and Murphy, Declan G and Ousley, Opal and Campbell, Linda E and Simon, Tony J and Eliez, Stephan and Int Consortium Brain Behav 22q11 2 and International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome and for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
The American journal of psychiatry, ISSN 0002-953X, 06/2014, Volume 171, Issue 6, pp. 627 - 639
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Age Factors | Mood Disorders - genetics | Humans | Middle Aged | Male | DiGeorge Syndrome - psychology | Intelligence - genetics | Young Adult | Mental Disorders - genetics | Psychotic Disorders - genetics | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - genetics | DiGeorge Syndrome - complications | Adolescent | Sex Factors | Adult | Anxiety Disorders - genetics | Female | Aged | Psychopathology | Child | Genetic susceptibility | Gene mutations | Genetic research | Genetic aspects | Research | Mental illness | Identification and classification | Mental disorders | Attention Deficit Hyperactivity Disorder | Schizophrenia | Genetic diversity | Neuropsychology | Index Medicus | Abridged Index Medicus
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3. Full Text Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
by Chen, Rong and Shi, Lisong and Hakenberg, Jörg and Naughton, Brian and Sklar, Pamela and Zhang, Jianguo and Zhou, Hanlin and Tian, Lifeng and Prakash, Om and Lemire, Mathieu and Sleiman, Patrick and Cheng, Wei-Yi and Chen, Wanting and Shah, Hardik and Shen, Yulan and Fromer, Menachem and Omberg, Larsson and Deardorff, Matthew A and Zackai, Elaine and Bobe, Jason R and Levin, Elissa and Hudson, Thomas J and Groop, Leif and Wang, Jun and Hakonarson, Hakon and Wojcicki, Anne and Diaz, George A and Edelmann, Lisa and Schadt, Eric E and Friend, Stephen H
Nature biotechnology, ISSN 1087-0156, 05/2016, Volume 34, Issue 5, pp. 531 - 538
Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Mendelian Randomization Analysis - methods | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Genetic Testing - methods | Genome, Human - genetics | Chromosome Mapping - methods | Sensitivity and Specificity | Mendelian Randomization Analysis - statistics & numerical data | Polymorphism, Single Nucleotide - genetics | Female | Chromosome Mapping - statistics & numerical data | Child | Disease Resistance - genetics | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Genetic aspects | Nucleotide sequencing | Children | Methods | DNA sequencing | Diseases | Studies | Genetics | Mutation | Disease | Analysis | Index Medicus
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4. Full Text A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
by Lindhurst, Marjorie J and Sapp, Julie C and Teer, Jamie K and Johnston, Jennifer J and Finn, Erin M and Peters, Kathryn and Turner, Joyce and Cannons, Jennifer L and Bick, David and Blakemore, Laurel and Blumhorst, Catherine and Brockmann, Knut and Calder, Peter and Cherman, Natasha and Deardorff, Matthew A and Everman, David B and Golas, Gretchen and Greenstein, Robert M and Kato, B. Maya and Keppler-Noreuil, Kim M and Kuznetsov, Sergei A and Miyamoto, Richard T and Newman, Kurt and Ng, David and O'Brien, Kevin and Rothenberg, Steven and Schwartzentruber, Douglas J and Singhal, Virender and Tirabosco, Roberto and Upton, Joseph and Wientroub, Shlomo and Zackai, Elaine H and Hoag, Kimberly and Whitewood-Neal, Tracey and Robey, Pamela G and Schwartzberg, Pamela L and Darling, Thomas N and Tosi, Laura L and Mullikin, James C and Biesecker, Leslie G
The New England journal of medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
CELLS | DEFECTS | MCCUNE-ALBRIGHT SYNDROME | GERMLINE MUTATION | LETHAL GENES | LIPOMATOSIS | GROWTH | MICE | TUMOR-SUPPRESSOR PTEN | CHALLENGES | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Complex syndromes | Medical sciences | Medical genetics | Phosphorylation | DNA Mutational Analysis | Humans | Exons - genetics | Genotype | Male | Mosaicism | Proteus Syndrome - genetics | Mutation | Proto-Oncogene Proteins c-akt - metabolism | Child | Proto-Oncogene Proteins c-akt - genetics | Care and treatment | Usage | Gene mutations | Proteus syndrome | Causes of | Genetic aspects | Research | Nucleotide sequencing | Cell proliferation | Cell culture | Enzymes | AKT1 protein | Nucleotide sequence | Families & family life | AKT protein | Genomes | Patients | Western blotting | 1-Phosphatidylinositol 3-kinase | Genetic counseling | Biopsy | Skin | Deoxyribonucleic acid--DNA | DNA sequencing | Apoptosis | Index Medicus | Abridged Index Medicus
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5. Full Text De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
by Xia, Fan and Bainbridge, Matthew N and Tan, Tiong Yang and Wangler, Michael F and Scheuerle, Angela E and Zackai, Elaine H and Harr, Margaret H and Sutton, V. Reid and Nalam, Roopa L and Zhu, Wenmiao and Nash, Margot and Ryan, Monique M and Yaplito-Lee, Joy and Hunter, Jill V and Deardorff, Matthew A and Penney, Samantha J and Beaudet, Arthur L and Plon, Sharon E and Boerwinkle, Eric A and Lupski, James R and Eng, Christine M and Muzny, Donna M and Yang, Yaping and Gibbs, Richard A
American journal of human genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 784 - 789
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Muscle Hypotonia - genetics | Language Development Disorders - genetics | Humans | Child, Preschool | Infant | Male | Sleep Apnea Syndromes - genetics | DNA-Binding Proteins - genetics | Syndrome | Intellectual Disability - genetics | Exome - genetics | Female | Mutation | Child | Language disorders | Gene mutations | Genetic research | Sleep apnea syndromes | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Genetics | Learning disabilities | Sleep apnea | Neurological disorders | Index Medicus | Report
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6. Full Text Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
by Johnston, Jennifer J and van der Smagt, Jasper J and Rosenfeld, Jill A and Pagnamenta, Alistair T and Alswaid, Abdulrahman and Baker, Eva H and Blair, Edward and Borck, Guntram and Brinkmann, Julia and Craigen, William and Dung, Vu Chi and Emrick, Lisa and Everman, David B and van Gassen, Koen L and Gulsuner, Suleyman and Harr, Margaret H and Jain, Mahim and Kuechler, Alma and Leppig, Kathleen A and McDonald-McGinn, Donna M and Can, Ngoc Thi Bich and Peleg, Amir and Roeder, Elizabeth R and Rogers, R Curtis and Sagi-Dain, Lena and Sapp, Julie C and Schäffer, Alejandro A and Schanze, Denny and Stewart, Helen and Taylor, Jenny C and Verbeek, Nienke E and Walkiewicz, Magdalena A and Zackai, Elaine H and Zweier, Christiane and Zenker, Martin and Lee, Brendan and Biesecker, Leslie G and Members Undiagnosed Dis Network and Members of the Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1175 - 1185
leukemia | multiple congenital anomalies | autosomal recessive inheritance | cardiomyopathy | Noonan syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Child, Preschool | Genotype | Infant | Male | Transcription Factors - genetics | Noonan Syndrome - genetics | Noonan Syndrome - pathology | Exome - genetics | Pedigree | RNA Splicing - genetics | Adolescent | Female | Heterozygote | Mutation | Child | Genetic Linkage | Protein Isoforms - genetics | Siblings | Families & family life | Index Medicus
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7. Full Text Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)
by Pastor, Steven and Tran, Oanh and Jin, Andrea and Carrado, Danielle and Silva, Benjamin A and Uppuluri, Lahari and Abid, Heba Z and Young, Eleanor and Crowley, T. Blaine and Bailey, Alice G and McGinn, Daniel E and McDonald-McGinn, Donna M and Zackai, Elaine H and Xie, Michael and Taylor, Deanne and Morrow, Bernice E and Xiao, Ming and Emanuel, Beverly S
Scientific reports, ISSN 2045-2322, 12/2020, Volume 10, Issue 1, pp. 12235 - 12235
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Haplotypes | Breakpoints | Homologous recombination | Genomes | Gene deletion | Gene mapping | Bioinformatics | Risk factors | Index Medicus
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8. Full Text Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
by Stankiewicz, Paweł and Sen, Partha and Bhatt, Samarth S and Storer, Mekayla and Xia, Zhilian and Bejjani, Bassem A and Ou, Zhishuo and Wiszniewska, Joanna and Driscoll, Daniel J and Bolivar, Juan and Bauer, Mislen and Zackai, Elaine H and McDonald-McGinn, Donna and Nowaczyk, Małgorzata M.J and Murray, Mitzi and Shaikh, Tamim H and Martin, Vicki and Tyreman, Matthew and Simonic, Ingrid and Willatt, Lionel and Paterson, Joan and Mehta, Sarju and Rajan, Diana and Fitzgerald, Tomas and Gribble, Susan and Prigmore, Elena and Patel, Ankita and Shaffer, Lisa G and Carter, Nigel P and Cheung, Sau Wai and Langston, Claire and Shaw-Smith, Charles
American journal of human genetics, ISSN 0002-9297, 06/2009, Volume 84, Issue 6, pp. 780 - 791
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Pulmonary Veins - abnormalities | Pulmonary Alveoli - pathology | Humans | Gene Silencing | Child, Preschool | In Situ Hybridization, Fluorescence | Infant | Male | Chromosome Mapping | Forkhead Transcription Factors - genetics | Mutation - genetics | Bronchopulmonary Dysplasia - genetics | Gene Deletion | Doxorubicin - analogs & derivatives | Female | Capillaries - abnormalities | Abnormalities, Multiple - genetics | Infant, Newborn | Pulmonary Alveoli - blood supply | Chromosomes, Human, Pair 16 - genetics | Polymerase chain reaction | Usage | Gene mutations | Vascular resistance | Lung diseases | Analysis | Genetic aspects | Research | Nucleotide sequencing | Genetic transcription | Dysplasia | DNA microarrays | Genetic disorders | Genes | Genetic research | Cytogenetics | Congenital diseases | Lungs | Pulmonary arteries | Genomics | Mutation | Chromosomes | Index Medicus
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