Somatic gene mutation and human disease other than cancer: An update

Strong Association of De Novo Copy Number Mutations with Autism

2007 • 2,782 citations

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

1997 • 2,063 citations

Targeted capture and massively parallel sequencing of 12 human exomes

2009 • 1,986 citations

Mobile Elements: Drivers of Genome Evolution

2004 • 1,833 citations

The complete genome of an individual by massively parallel DNA sequencing

2008 • 1,792 citations

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

2008 • 1,788 citations

Structural Variation of Chromosomes in Autism Spectrum Disorder

2008 • 1,781 citations

Common variants conferring risk of schizophrenia

2009 • 1,651 citations

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1994 • 1,573 citations

Rare chromosomal deletions and duplications increase risk of schizophrenia

2008 • 1,456 citations

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

1993 • 1,067 citations

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

1998 • 1,019 citations

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

2005 • 922 citations

L1 retrotransposition in human neural progenitor cells

2009 • 798 citations

Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2

1996 • 779 citations

Chromosome instability is common in human cleavage-stage embryos

2009 • 765 citations

Germline mutations in HRAS proto-oncogene cause Costello syndrome

2005 • 659 citations

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

2009 • 580 citations

Somatic Mutations in the Connexin 40 Gene (GJA5) in Atrial Fibrillation

2006 • 529 citations

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

1998 • 442 citations

FETAL LOSS AFTER IMPLANTATION

1980 • 434 citations

Human aneuploidy: Incidence, origin, and etiology

1996 • 431 citations

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

2008 • 421 citations

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

2009 • 370 citations

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

2004 • 319 citations

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

2004 • 314 citations

Autoimmune Lymphoproliferative Syndrome with SomaticFasMutations

2004 • 309 citations

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

2007 • 276 citations

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

2007 • 264 citations

Activating Gsα Mutations: Analysis of 113 Patients with Signs of McCune-Albright Syndrome—A European Collaborative Study

2004 • 259 citations

A mutant PTH/PTHrP type I receptor in enchondromatosis

2002 • 255 citations

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

2001 • 219 citations

Inborn Errors Of Development

2008 • 218 citations

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

2007 • 217 citations

Somatic mosaicism for copy number variation in differentiated human tissues

2008 • 209 citations

DNA instability in postmitotic neurons

2008 • 207 citations

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis

2000 • 206 citations

Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling

1998 • 204 citations

Duchenne muscular dystrophy

1988 • 203 citations

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

2007 • 185 citations

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

2001 • 171 citations

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

2003 • 167 citations

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

2001 • 160 citations

Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

2007 • 158 citations

Confined chorionic mosaicism in prenatal diagnosis

1987 • 156 citations

Somatic Mosaicism in Hemophilia A: A Fairly Common Event

2001 • 150 citations

HANDICAPPED FAMILIES

1975 • 149 citations

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway

2004 • 144 citations

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants

2009 • 144 citations

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

2003 • 143 citations

High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

2004 • 141 citations

Isolation, Characterization, and Organ-Specific Expression of Two Novel Human Zinc Finger Genes Related to theDrosophilaGenespalt

1996 • 140 citations

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

2003 • 131 citations

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome

2005 • 131 citations

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

2007 • 128 citations

PIG-A mutations in normal hematopoiesis

2005 • 125 citations

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

1988 • 117 citations

Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling

2005 • 112 citations

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

2006 • 112 citations

Somatic gene mutation and human disease other than cancer

2003 • 110 citations

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

2007 • 101 citations

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

2006 • 100 citations

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

2004 • 100 citations

Epidermal mosaicism and Blaschko's lines.

1993 • 97 citations

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

2004 • 96 citations

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with α thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations

2003 • 95 citations

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

2009 • 92 citations

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

2002 • 91 citations

Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin.

1995 • 90 citations

Somatic mosaicism for an HRAS mutation causes Costello syndrome

2006 • 90 citations

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

2007 • 89 citations

PHOX2B Germline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome

2007 • 88 citations

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

2004 • 88 citations

Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings

2003 • 86 citations

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

2007 • 85 citations

Severe phenotype in infantile facioscapulohumeral muscular dystrophy

2006 • 83 citations

Segmental neurofibromatosis in childhood

2003 • 83 citations

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

2007 • 81 citations

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

2004 • 80 citations

A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs

2009 • 78 citations

Multiple Correcting COL17A1 Mutations in Patients with Revertant Mosaicism of Epidermolysis Bullosa

2005 • 76 citations

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

2004 • 75 citations

Mutagenesis and cardiovascular diseases

2007 • 74 citations

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

1993 • 73 citations

Incontinentia pigmenti in male patients

2006 • 72 citations

The clinical phenotype of mosaicism for genome‐wide paternal uniparental disomy: Two new reports

2007 • 71 citations

Multiple novel alterations inKittyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder

2007 • 70 citations

Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

2009 • 70 citations

Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex11Part of this paper was presented at the 2nd Scientific Meeting of the Dutch Society for Experimental Dermatology, Lunteren, the Netherlands, February 8, 2001 and on the 30th Annual Meeting of the European Society for Dermatological Research, Berlin, September 22, 2000.

2002 • 69 citations

Genetics and Early Disturbances of Breathing Control: The Genetics of Childhood Disease and Development: A Series of Review Articles

2004 • 67 citations

Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non‐segmental vitiligo

2008 • 65 citations

Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination

2007 • 64 citations

Gene Conversion Is a Frequent Mechanism of Inactivation of the Wild-Type Allele in Cancers from MLH1/MSH2 Deletion Carriers

2006 • 62 citations

Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier

1999 • 59 citations

Origin of de Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings

2007 • 58 citations

Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine

2002 • 58 citations

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

2007 • 58 citations

Cytogenetic analysis of spontaneous abortions: Comparison of techniques and assessment of the incidence of confined placental mosaicism

1997 • 57 citations

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

2007 • 56 citations

High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta**Presented as a platform presentation at the National Meeting of the American Society of Bone and Mineral Research (Late-Breaking Research Session), San Antonio, TX, September 2002.

2004 • 54 citations

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1

2003 • 52 citations

Androgenetic/Biparental Mosaicism in an Infant with Hepatic Mesenchymal Hamartoma and Placental Mesenchymal Dysplasia

2008 • 51 citations

Copy number variation and mosaicism

2008 • 50 citations

Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait

2006 • 49 citations

Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism

1990 • 48 citations

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia

2004 • 47 citations

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints

2007 • 45 citations

Somatic and gonadal mosaicism in Hutchinson–Gilford progeria

2005 • 45 citations

Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration

2008 • 44 citations

Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the Calcium-Sensing Receptor Gene

2003 • 42 citations

Multiple independent second‐site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome

2008 • 41 citations

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders

2006 • 41 citations

Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family

2004 • 40 citations

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

2007 • 40 citations

Actin-Binding Protein (ABP-280) Filamin Gene (FLN) Maps Telomeric to the Color Vision Locus (R/GCP) and Centromeric to G6PD in Xq28

1993 • 37 citations

BAK1 gene variation and abdominal aortic aneurysms

2009 • 37 citations

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype☆

2006 • 36 citations

Somatic mosaicism and variable penetrance in doublecortin -associated migration disorders

2003 • 36 citations

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome

2004 • 35 citations

TRANSABDOMINAL CHORION VILLUS BIOPSY: 100 CONSECUTIVE CASES

1987 • 34 citations

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

2003 • 34 citations

A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion

2005 • 33 citations

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

2008 • 32 citations

Dandy–Walker malformation in an infant with tetrasomy 9p

2003 • 30 citations

Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

2005 • 29 citations

AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation

2007 • 29 citations

Mutation Analysis in a Population-Based Cohort of Boys With Duchenne or Becker Muscular Dystrophy

2008 • 28 citations

A second-site mutation in the initiation codon ofWAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient

2006 • 28 citations

Germline and somatic mosaicism in a female carrier of Hunter disease.

1997 • 28 citations

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

2008 • 28 citations

Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

2004 • 26 citations

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study

2001 • 25 citations

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

2006 • 24 citations

Somatic and gonadal mosaicism in X‐linked retinitis pigmentosa

2007 • 24 citations

Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency

2004 • 24 citations

Somatic mutations of synaptic cadherin (CNR family) transcripts in the nervous system

2001 • 23 citations

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome

2008 • 23 citations

Mosaicism in von Hippel‐Lindau disease: an event important to recognize

2007 • 23 citations

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia

2008 • 23 citations

Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA

2007 • 23 citations

First description of somatic mosaicism in MYH9 disorders

2005 • 23 citations

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

2003 • 21 citations

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene

1999 • 21 citations

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

1991 • 21 citations

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation

2005 • 21 citations

Mosaicism due to myeloid lineage–restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting

2007 • 21 citations

Grouped Congenital Hypertrophy of the Retinal Pigment Epithelium Follows Developmental Patterns of Pigmentary Mosaicism

2005 • 18 citations

Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient

2004 • 17 citations

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

2008 • 16 citations

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene

2004 • 16 citations

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

1999 • 15 citations

Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism

2005 • 14 citations

The presence of germ line mosaicism in cleidocranial dysplasia

2007 • 14 citations

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

2003 • 10 citations

The G397A (E133K) change in theAGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

2006 • 10 citations

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

2005 • 9 citations

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

2009 • 9 citations

Constitutional partial 1q trisomy mosaicism and Wilms tumor

2005 • 8 citations

Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association

2005 • 8 citations

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures

2003 • 8 citations

Neurofibromatosis segmentaria en niños. Presentación de 43 pacientes

2008 • 8 citations

Somatic mosaicism for the SALL1 mutation p.Ser371X in full‐blown Townes–Brocks syndrome with Duane anomaly

2009 • 7 citations

Germline mosaicism complicates molecular diagnosis of Lesch–Nyhan syndrome

2004 • 5 citations

Discordant phenotypic expression of Alport syndrome in monozygotic twins

2004 • 3 citations

Dandy-Walker malformation in mosaic Klinefelter syndrome.

2006 • 1 citations