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1. Full Text Rare loss of function variants in candidate genes and risk of colorectal cancer
by Rosenthal, Elisabeth A and Shirts, Brian H and Amendola, Laura M and Horike-Pyne, Martha and Robertson, Peggy D and Hisama, Fuki M and Bennett, Robin L and Dorschner, Michael O and Nickerson, Deborah A and Stanaway, Ian B and Nassir, Rami and Vickers, Kathy T and Li, Christopher and Grady, William M and Peters, Ulrike and Jarvik, Gail P and NHLBI GO Exome Sequencing Project
Human Genetics, ISSN 0340-6717, 10/2018, Volume 137, Issue 10, pp. 795 - 806
Although ~ 25% of colorectal cancer or polyp (CRC/P) cases show familial aggregation, current germline genetic testing identifies a causal genotype in the 16... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | BREAST-CANCER | FAMILIES | SUSCEPTIBILITY | GENETICS & HEREDITY | GERMLINE MUTATIONS | AMERICAN-COLLEGE | OVARIAN-CANCER | LYNCH SYNDROME | PREDISPOSE | ASSOCIATION | ADENOMATOUS POLYPOSIS | Colorectal Neoplasms - genetics | Humans | Middle Aged | Risk Factors | Fanconi Anemia Complementation Group Proteins - genetics | Male | Genetic Loci | Genetic Variation | Adolescent | Deoxyribonuclease (Pyrimidine Dimer) - genetics | Aged, 80 and over | Adult | Female | RNA Helicases - genetics | Aged | BRCA2 Protein - genetics | Genes | Colorectal cancer | Genetic aspects | Health aspects | Genetic screening | Risk factors | Cancer | BRCA2 protein | Colorectal carcinoma | Genotypes | genetic testing panels | polyps | BRIP1 | BRCA2 | NTHL1
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2. Full Text Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
by Posey, Jennifer E and Harel, Tamar and Liu, Pengfei and Rosenfeld, Jill A and James, Regis A and Coban Akdemir, Zeynep H and Walkiewicz, Magdalena and Bi, Weimin and Xiao, Rui and Ding, Yan and Xia, Fan and Beaudet, Arthur L and Muzny, Donna M and Gibbs, Richard A and Boerwinkle, Eric and Eng, Christine M and Sutton, V. Reid and Shaw, Chad A and Plon, Sharon E and Yang, Yaping and Lupski, James R
The New England Journal of Medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 21 - 31
Of over 7000 patients referred to a diagnostic laboratory, 28% had diagnoses based on DNA sequencing, 5% of whom had two or more diagnoses. Their phenotypes... 
EXOME | MEDICINE, GENERAL & INTERNAL | ONTOLOGY | MUTATIONS | INHERITANCE | RETINITIS-PIGMENTOSA | UTILITY | Exome | Genetic Variation | Phenotype | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing | Retrospective Studies | Genotyping Techniques | Sequence Analysis, DNA - methods | Research | Genomics | Exome sequencing | Genotype & phenotype | Hypotheses | Phenotypes | Laboratories | Data processing | Genomes | Diagnosis | Patients | Genotypes
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3. Full Text A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders
by Jacquemont, Sébastien and Coe, Bradley P and Hersch, Micha and Duyzend, Michael H and Krumm, Niklas and Bergmann, Sven and Beckmann, Jacques S and Rosenfeld, Jill A and Eichler, Evan E
American Journal of Human Genetics, ISSN 0002-9297, 03/2014, Volume 94, Issue 3, pp. 415 - 425
Increased male prevalence has been repeatedly reported in several neurodevelopmental disorders (NDs), leading to the concept of a "female protective model." We... 
MICRODELETION | DE-NOVO MUTATIONS | VARIANTS | BEHAVIOR | CNVS | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDERS | IDENTIFICATION | COPY-NUMBER VARIATION | CLINICAL-SIGNIFICANCE | CHILDREN | Markov Chains | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Databases, Genetic | Male | Developmental Disabilities - genetics | DNA Copy Number Variations | Young Adult | DNA Mutational Analysis | Gene Deletion | Chromosomes, Artificial, Bacterial | Adult | Female | Odds Ratio | Genotype | Cognition Disorders - genetics | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Sex Factors | Aged | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Psychological aspects | Child development deviations | Genetic aspects | Gene mutations | Health aspects | Developmental disabilities
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4. Full Text A copy number variation morbidity map of developmental delay
by Cooper, Gregory M and Coe, Bradley P and Girirajan, Santhosh and Rosenfeld, Jill A and Vu, Tiffany H and Baker, Carl and Williams, Charles and Stalker, Heather and Hamid, Rizwan and Hannig, Vickie and Abdel-Hamid, Hoda and Bader, Patricia and McCracken, Elizabeth and Niyazov, Dmitriy and Leppig, Kathleen and Thiese, Heidi and Hummel, Marybeth and Alexander, Nora and Gorski, Jerome and Kussmann, Jennifer and Shashi, Vandana and Johnson, Krys and Rehder, Catherine and Ballif, Blake C and Shaffer, Lisa G and Eichler, Evan E
Nature Genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 838 - 846
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability... 
MICRODELETION | HUMAN GENOME | INCREASE RISK | RARE CHROMOSOMAL DELETIONS | HOLT-ORAM SYNDROME | GENES | GENETICS & HEREDITY | SCHIZOPHRENIA | COMMON | STRUCTURAL VARIATION | ARRAY CGH | Genetic Variation | Congenital Abnormalities - genetics | Humans | Child, Preschool | Adult | Chromosome Mapping | Developmental Disabilities - genetics | Gene Dosage | Genetic variation | Birth defects | Genetic aspects | Diagnosis | Research | Gene expression | Morbidity | Disability | Medical research | Autism | Pediatrics | Disease | Womens health | Data collection | Genomes | Mutation | Manuscripts
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5. Full Text Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
by Bernier, Raphael and Golzio, Christelle and Xiong, Bo and Stessman, Holly A and Coe, Bradley P and Penn, Osnat and Witherspoon, Kali and Gerdts, Jennifer and Baker, Carl and Vulto-van Silfhout, Anneke T and Schuurs-Hoeijmakers, Janneke H and Fichera, Marco and Bosco, Paolo and Buono, Serafino and Alberti, Antonino and Failla, Pinella and Peeters, Hilde and Steyaert, Jean and Vissers, Lisenka E.L.M and Francescatto, Ludmila and Mefford, Heather C and Rosenfeld, Jill A and Bakken, Trygve and O’Roak, Brian J and Pawlus, Matthew and Moon, Randall and Shendure, Jay and Amaral, David G and Lein, Ed and Rankin, Julia and Romano, Corrado and de Vries, Bert B.A and Katsanis, Nicholas and Eichler, Evan E
Cell, ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that... 
HEART-DISEASE | ZEBRAFISH | DE-NOVO MUTATIONS | GENE | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPECTRUM DISORDERS | ASSOCIATION | EXPRESSION | CHARGE-SYNDROME | CHILDREN | CELL BIOLOGY | Megalencephaly - pathology | Humans | Child, Preschool | Molecular Sequence Data | Child Development Disorders, Pervasive - physiopathology | Male | Macaca mulatta | Brain - growth & development | DNA-Binding Proteins - metabolism | Female | Gastrointestinal Tract - innervation | Child | Child Development Disorders, Pervasive - classification | Amino Acid Sequence | Child Development Disorders, Pervasive - pathology | Zebrafish Proteins - metabolism | Gastrointestinal Tract - physiopathology | Zebrafish | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Transcription Factors - metabolism | Sequence Alignment | Animals | Child Development Disorders, Pervasive - genetics | Adolescent | Brain - pathology | Mutation | Zebrafish Proteins - genetics | Autism | Analysis | Genetic aspects | Medical colleges | Hospitals | Comorbidity | Genomics | Medical genetics | dysmorphology | zebrafish modeling | enteric neurons | midbrain expansion | macrocephaly | gastrointestinal defect | autism subtypes | forebrain | Autism spectrum disorder
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6. Full Text Estimates of penetrance for recurrent pathogenic copy-number variations
by Rosenfeld, Jill A and Coe, Bradley P and Eichler, Evan E and Cuckle, Howard and Shaffer, Lisa G
Genetics in Medicine, ISSN 1098-3600, 06/2013, Volume 15, Issue 6, pp. 478 - 481
Purpose: Although an increasing number of copy-number variations are being identified as susceptibility loci for a variety of pediatric diseases, the... 
microarray | prenatal diagnosis | genomic disorder | copy-number variation | penetrance | VARIANTS | MICRODELETION SYNDROME | DISORDERS | DEVELOPMENTAL-DISABILITIES | PREGNANCIES | GENETICS & HEREDITY | COMPARATIVE GENOMIC HYBRIDIZATION | PRENATAL-DIAGNOSIS | Genetic Predisposition to Disease | Algorithms | Humans | Bayes Theorem | Genotype | Penetrance | Models, Genetic | Genetic Loci | Case-Control Studies | DNA Copy Number Variations | Brief Report
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7. Full Text Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
by Talkowski, Michael E and Rosenfeld, Jill A and Blumenthal, Ian and Pillalamarri, Vamsee and Chiang, Colby and Heilbut, Adrian and Ernst, Carl and Hanscom, Carrie and Rossin, Elizabeth and Lindgren, Amelia M and Pereira, Shahrin and Ruderfer, Douglas and Kirby, Andrew and Ripke, Stephan and Harris, David J and Lee, Ji-Hyun and Ha, Kyungsoo and Kim, Hyung-Goo and Solomon, Benjamin D and Gropman, Andrea L and Lucente, Diane and Sims, Katherine and Ohsumi, Toshiro K and Borowsky, Mark L and Loranger, Stephanie and Quade, Bradley and Lage, Kasper and Miles, Judith and Wu, Bai-Lin and Shen, Yiping and Neale, Benjamin and Shaffer, Lisa G and Daly, Mark J and Morton, Cynthia C and Gusella, James F
Cell, ISSN 0092-8674, 04/2012, Volume 149, Issue 3, pp. 525 - 537
Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We... 
CHD8 INTERACTS | CHROMATIN REMODELING FACTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | MICRODELETION SYNDROME | SUSCEPTIBILITY LOCI | SCHIZOPHRENIA | DEVELOPMENTAL DELAY | AUTISM SPECTRUM DISORDERS | BIPOLAR DISORDER | PITT-HOPKINS-SYNDROME | GENOME-WIDE ASSOCIATION | CELL BIOLOGY | Autistic Disorder - genetics | Chromosome Deletion | Genetic Predisposition to Disease | Genome-Wide Association Study | Signal Transduction | Humans | Sequence Analysis, DNA | DNA Copy Number Variations | Schizophrenia - genetics | Nervous System - growth & development | Child Development Disorders, Pervasive - genetics | Child Development Disorders, Pervasive - diagnosis | Chromosome Aberrations | Autistic Disorder - diagnosis | Child | Chromosome Breakage | Medical colleges | Children's hospitals | Oncology, Experimental | Genes | Genomics | Schizophrenia | Genomes | Research | Population genetics | Methyltransferases | Reservoirs | Diagnosis | Mental illness | Cancer | Foxp1 protein | Autism | Developmental stages | Mental disorders | Boundaries | Neurodevelopmental disorders
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8. Full Text Refining analyses of copy number variation identifies specific genes associated with developmental delay
by Coe, B.P and Witherspoon, K and Rosenfeld, J.A and Bon, B.W.M. van and Silfhout, A.T. van and Bosco, P and Friend, K.L and Baker, C and Buono, S and Vissers, L.E.L.M and Schuurs-Hoeijmakers, J.H.M and Hoischen, A and Pfundt, R and Krumm, N and Carvill, G.L and Li, D and Amaral, D and Brown, N and Lockhart, P.J and Scheffer, I.E and Alberti, A and Shaw, M and Pettinato, R and Tervo, R and Leeuw, N. de and Reijnders, M.R and Torchia, B.S and Peeters, H and Thompson, E and O'Roak, B.J and Fichera, M and Hehir-Kwa, J.Y and Shendure, J and Mefford, H.C and Haan, E and Gécz, J and Vries, B.B. de and Romano, C and Eichler, E.E
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes... 
INTELLECTUAL DISABILITY | MOLECULAR CHARACTERIZATION | DE-NOVO MUTATIONS | MENTAL-RETARDATION | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDER | MICRODELETION SYNDROME | SEGMENTAL DUPLICATIONS | DELETIONS | SCHINZEL-GIEDION SYNDROME | CLINICAL-SIGNIFICANCE | Autistic Disorder - genetics | Haploinsufficiency - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Developmental Disabilities - genetics | Sequence Analysis, DNA | DNA Copy Number Variations | Intellectual Disability - genetics | Carrier Proteins - genetics | Comparative Genomic Hybridization | Base Sequence | Female | Polymorphism, Single Nucleotide | Nuclear Proteins - genetics | Child | Psychological aspects | Copy number variations | Genes | Genetic aspects | Health aspects | Identification and classification | Developmental delay | Studies | Medical research | Autism | Integrated approach | Genomics | Mental health | Mutation | Morbidity
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9. Full Text Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
by Kim, HG and Rosenfeld, JA and Scott, DA and Benedicte, G and Labonne, JD and Brown, J and McGuire, M and Mahida, S and Naidu, S and Gutierrez, J and Lesca, G and des Portes, V and Bruel, AL and Sorlin, A and Xia, F and Capri, Y and Muller, E and McKnight, D and Torti, E and Ruschendorf, F and Hummel, O and Islam, Z and Kolatkar, PR and Layman, LC and Ryu, D and Kong, IK and Madan-Khetarpal, S and Kim, CH
MOLECULAR AUTISM, ISSN 2040-2392, 10/2019, Volume 10, Issue 1, pp. 1 - 15
Background PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at... 
INTRINSIC DISORDER | Autism spectrum disorder (ASD) | KDM1A | POTOCKI-SHAFFER-SYNDROME | AT Hook domain | DEVELOPMENTAL DELAY | Neurodevelopmental disorders | NEUROSCIENCES | PHF21A | DELETION | FAMILY | Potocki-Shaffer syndrome (PSS) | Intellectual disability (ID) | Intrinsically disordered region (IDR) | BHC80 | GENETICS & HEREDITY | DEFINES | MUTATIONS | HOMEOBOX GENE | BRAIN | Autism | Nucleotide sequencing | Analysis | Epilepsy | DNA sequencing
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10. Full Text Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies
by Rosenfeld, Jill A and Patel, Ankita
Journal of Pediatric Genetics, ISSN 2146-4596, 03/2017, Volume 6, Issue 1, pp. 042 - 050
Abstract Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human...