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1. Full Text Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
by Lee, Hane and Deignan, Joshua L and Dorrani, Naghmeh and Strom, Samuel P and Kantarci, Sibel and Quintero-Rivera, Fabiola and Das, Kingshuk and Toy, Traci and Harry, Bret and Yourshaw, Michael and Fox, Michelle and Fogel, Brent L and Martinez-Agosto, Julian A and Wong, Derek A and Chang, Vivian Y and Shieh, Perry B and Palmer, Christina G. S and Dipple, Katrina M and Grody, Wayne W and Vilain, Eric and Nelson, Stanley F
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 10/2014, Volume 312, Issue 18, pp. 1880 - 1887
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Exome | Molecular Diagnostic Techniques | Adolescent | Adult | Female | Mutation | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Infant, Newborn | Technology application | Usage | Genetic disorders | Exome sequencing | Diagnosis | Risk factors | Genetic screening | Genotype & phenotype | Genomes | Molecular biology | Medical diagnosis | Index Medicus | Abridged Index Medicus
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2. Full Text Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
by Collins, Ryan L and Brand, Harrison and Redin, Claire E and Hanscom, Carrie and Antolik, Caroline and Stone, Matthew R and Glessner, Joseph T and Mason, Tamara and Pregno, Giulia and Dorrani, Naghmeh and Manile, Giorgia and Giachino, Daniela and Perrin, Danielle and Walsh, Cole and Cipicchio, Michelle and Costello, Maura and Stortchevoi, Alexei and An, Joon Yong and Currall, Benjamin B and Seabra, Catarina M and Ragavenan, Ashok and Margolin, Lauren and Martinez-Agosto, Julian A and Lucente, Diane and Levy, Brynn and Sanders, Jan-Stephan and Wapner, Ronald J and Quintero-Rivera, Fabiola and Kloosterman, Wigard and Talkowski, Michael E
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, pp. 36 - 36
Ecology, Evolution, Behavior and Systematics | Germline mutation | Inversion | Neurodevelopmental disorders | Chromothripsis | Journal Article | Chromoanagenesis | Copynumber variation | Cell Biology | Autism | Whole-genome sequencing | Structural variation | Complex chromosomal rearrangement | Genetics | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Gene Rearrangement | Humans | Chromosome Aberrations | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genomics - methods | Chromosome Inversion | Gene Order | Consortia | Breakpoints | Genomics | Genomes | Chromosome rearrangements | Chromosomes | Deoxyribonucleic acid--DNA | Cancer | Index Medicus
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3. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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4. Full Text De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
by Arboleda, Valerie A and Lee, Hane and Dorrani, Naghmeh and Zadeh, Neda and Willis, Mary and Macmurdo, Colleen Forsyth and Manning, Melanie A and Kwan, Andrea and Hudgins, Louanne and Barthelemy, Florian and Miceli, M. Carrie and Quintero-Rivera, Fabiola and Kantarci, Sibel and Strom, Samuel P and Deignan, Joshua L and Grody, Wayne W and Vilain, Eric and Nelson, Stanley F and UCLA Clinical Genomics Center and UCLA Clinical Genomics Ctr
American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 498 - 506
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Male | Developmental Disabilities - genetics | Exome | Histones - genetics | Pedigree | Histone Acetyltransferases - metabolism | Female | Heterozygote | Acetylation | Histones - metabolism | Mutation | Abnormalities, Multiple - genetics | Codon, Nonsense - genetics | Gene mutations | Causes of | Genetic research | Genetic aspects | Research | Microcephaly | Developmental delay | Enzymes | Chromatin | Congenital diseases | Cells | Developmental disabilities | Index Medicus | Report
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5. Full Text A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma
by Crane, Jacquelyn N and Chang, Vivian Y and Yong, William H and Salamon, Noriko and Kianmahd, Jessica and Dorrani, Naghmeh and Martinez‐Agosto, Julian A and Davidson, Tom B and Hane Lee UCLA Clinical Genomics and Hane Lee for UCLA Clinical Genomics Center
Pediatric blood & cancer, ISSN 1545-5009, 03/2020, Volume 67, Issue 3, pp. e28103 - n/a
Pediatrics | Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Prognosis | Humans | Hedgehog Proteins - metabolism | Infant | Male | Cerebellar Neoplasms - genetics | GTP-Binding Protein alpha Subunits, Gs - genetics | Hedgehog Proteins - genetics | Pedigree | Medulloblastoma - pathology | Germ-Line Mutation | Chromogranins - genetics | Female | Cerebellar Neoplasms - pathology | Medulloblastoma - genetics | Medical colleges | Medulloblastoma | Genetic aspects | Hedgehog protein | Mutation
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6. Full Text Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
by Lee, Hane and Huang, Alden Y and Wang, Lee-kai and Yoon, Amanda J and Renteria, Genecee and Eskin, Ascia and Signer, Rebecca H and Dorrani, Naghmeh and Nieves-Rodriguez, Shirley and Wan, Jijun and Douine, Emilie D and Woods, Jeremy D and Dell'Angelica, Esteban C and Fogel, Brent L and Martin, Martin G and Butte, Manish J and Parker, Neil H and Wang, Richard T and Shieh, Perry B and Wong, Derek A and Gallant, Natalie and Singh, Kathryn E and Asher, Y. Jane Tavyev and Sinsheimer, Janet S and Krakow, Deborah and Loo, Sandra K and Allard, Patrick and Papp, Jeanette C and Palmer, Christina G. S and Martinez-Agosto, Julian A and Nelson, Stanley F and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 03/2020, Volume 22, Issue 3, pp. 490 - 499
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genomes | Index Medicus | genome sequencing | exome sequencing | transcriptome sequencing | undiagnosed rare Mendelian diseases | molecular diagnosis
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7. Full Text DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
by Ji, Jianling and Lee, Hane and Argiropoulos, Bob and Dorrani, Naghmeh and Mann, John and Martinez-Agosto, Julian A and Gomez-Ospina, Natalia and Gallant, Natalie and Bernstein, Jonathan A and Hudgins, Louanne and Slattery, Leah and Isidor, Bertrand and Le Caignec, Cédric and David, Albert and Obersztyn, Ewa and Wis̈niowiecka-Kowalnik, Barbara and Fox, Michelle and Deignan, Joshua L and Vilain, Eric and Hendricks, Emily and Harr, Margaret Horton and Noon, Sarah E and Jackson, Jessi R and Wilkens, Alisha and Mirzaa, Ghayda and Salamon, Noriko and Abramson, Jeff and Zackai, Elaine H and Krantz, Ian and Innes, A. Micheil and Nelson, Stanley F and Grody, Wayne W and Quintero-Rivera, Fabiola
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1473 - 1481
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Chromosome Deletion | Down Syndrome - pathology | Microcephaly - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Male | Abnormalities, Multiple - physiopathology | Haploinsufficiency | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Phenotype | Protein-Tyrosine Kinases - genetics | Down Syndrome - genetics | Facies | Female | Microcephaly - physiopathology | Polymorphism, Single Nucleotide | Abnormalities, Multiple - genetics | Tyrosine | Phosphorylation | Phenotypes | Gait | Intellectual disabilities | Geffen, David | Microencephaly | Down's syndrome | Chromosome 21 | Speech | Ataxia | Genotypes | Seizures | Index Medicus
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8. Full Text SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
by Ng, Bobby G and Sosicka, Paulina and Agadi, Satish and Almannai, Mohammed and Bacino, Carlos A and Barone, Rita and Botto, Lorenzo D and Burton, Jennifer E and Carlston, Colleen and Chung, Brian Hon‐Yin and Cohen, Julie S and Coman, David and Dipple, Katrina M and Dorrani, Naghmeh and Dobyns, William B and Elias, Abdallah F and Epstein, Leon and Gahl, William A and Garozzo, Domenico and Hammer, Trine Bjørg and Haven, Jaclyn and Héron, Delphine and Herzog, Matthew and Hoganson, George E and Hunter, Jesse M and Jain, Mahim and Juusola, Jane and Lakhani, Shenela and Lee, Hane and Lee, Joy and Lewis, Katherine and Longo, Nicola and Lourenço, Charles Marques and Mak, Christopher C.Y and McKnight, Dianalee and Mendelsohn, Bryce A and Mignot, Cyril and Mirzaa, Ghayda and Mitchell, Wendy and Muhle, Hiltrud and Nelson, Stanley F and Olczak, Mariusz and Palmer, Christina G.S and Partikian, Arthur and Patterson, Marc C and Pierson, Tyler M and Quinonez, Shane C and Regan, Brigid M and Ross, M. Elizabeth and Guillen Sacoto, Maria J and Scaglia, Fernando and Scheffer, Ingrid E and Segal, Devorah and Singhal, Nilika Shah and Striano, Pasquale and Sturiale, Luisa and Symonds, Joseph D and Tang, Sha and Vilain, Eric and Willis, Mary and Wolfe, Lynne A and Yang, Hui and Yano, Shoji and Powis, Zöe and Suchy, Sharon F and Rosenfeld, Jill A and Edmondson, Andrew C and Grunewald, Stephanie and Freeze, Hudson H
Human mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 908 - 925
glycoside | UDP‐galactose | congenital disorders of glycosylation | nucleotide sugar transporter | UDP-galactose | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cricetulus | Humans | Cells, Cultured | Male | Congenital Disorders of Glycosylation - metabolism | Congenital Disorders of Glycosylation - pathology | Animals | Biopsy | Female | Mutation | Uridine Diphosphate Galactose - metabolism | Monosaccharide Transport Proteins - metabolism | Congenital Disorders of Glycosylation - genetics | CHO Cells | Monosaccharide Transport Proteins - genetics | Genetic aspects | Genetic disorders | Gene mutations | Galactose | Transferrin | Phenotypes | Congenital diseases | Fibroblasts | Glycosylation | Golgi apparatus | Index Medicus | Congenital Disorders of Glycosylation (CDG)
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