abstract：:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

journal_title：American journal of human genetics

authors： Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

更新日期：2018-11-01 00:00:00

abstract：:Although recent studies provide evidence for a common genetic basis between complex traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-specific manner remains elusive. Here, we have quantified the overlap of genes identified through large-scale genome-wide association studies (GW...

journal_title：American journal of human genetics

authors： Freund MK,Burch KS,Shi H,Mancuso N,Kichaev G,Garske KM,Pan DZ,Miao Z,Mohlke KL,Laakso M,Pajukanta P,Pasaniuc B,Arboleda VA

更新日期：2018-10-04 00:00:00

abstract：:Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-g...

journal_title：American journal of human genetics

authors： Alston CL,Heidler J,Dibley MG,Kremer LS,Taylor LS,Fratter C,French CE,Glasgow RIC,Feichtinger RG,Delon I,Pagnamenta AT,Dolling H,Lemonde H,Aiton N,Bjørnstad A,Henneke L,Gärtner J,Thiele H,Tauchmannova K,Quaghebeur G

更新日期：2018-10-04 00:00:00

abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

journal_title：American journal of human genetics

authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

更新日期：2018-09-06 00:00:00

abstract：:Multiple morphological abnormalities of the sperm flagellum (MMAF) is a severe form of male infertility defined by the presence of a mosaic of anomalies, including short, bent, curled, thick, or absent flagella, resulting from a severe disorganization of the axoneme and of the peri-axonemal structures. Mutations in DN...

journal_title：American journal of human genetics

authors： Kherraf ZE,Amiri-Yekta A,Dacheux D,Karaouzène T,Coutton C,Christou-Kent M,Martinez G,Landrein N,Le Tanno P,Fourati Ben Mustapha S,Halouani L,Marrakchi O,Makni M,Latrous H,Kharouf M,Pernet-Gallay K,Gourabi H,Robinson DR

更新日期：2018-09-06 00:00:00

abstract：:Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic tes...

journal_title：American journal of human genetics

authors： Martin CA,Sarlós K,Logan CV,Thakur RS,Parry DA,Bizard AH,Leitch A,Cleal L,Ali NS,Al-Owain MA,Allen W,Altmüller J,Aza-Carmona M,Barakat BAY,Barraza-García J,Begtrup A,Bogliolo M,Cho MT,Cruz-Rojo J,Dhahrabi HAM,Elci

更新日期：2018-08-02 00:00:00

abstract：:The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike domina...

journal_title：American journal of human genetics

authors： Xu Z,Lo WS,Beck DB,Schuch LA,Oláhová M,Kopajtich R,Chong YE,Alston CL,Seidl E,Zhai L,Lau CF,Timchak D,LeDuc CA,Borczuk AC,Teich AF,Juusola J,Sofeso C,Müller C,Pierre G,Hilliard T,Turnpenny PD,Wagner M,Kappler

更新日期：2018-07-05 00:00:00

abstract：:Integration of detailed phenotype information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately and efficiently extr...

journal_title：American journal of human genetics

authors： Son JH,Xie G,Yuan C,Ena L,Li Z,Goldstein A,Huang L,Wang L,Shen F,Liu H,Mehl K,Groopman EE,Marasa M,Kiryluk K,Gharavi AG,Chung WK,Hripcsak G,Friedman C,Weng C,Wang K

更新日期：2018-07-05 00:00:00

abstract：:Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants for many complex diseases; however, these variants explain only a small fraction of the heritability. Recently, genetic association studies that leverage external transcriptome data have received much attention and shown...

journal_title：American journal of human genetics

authors： Su YR,Di C,Bien S,Huang L,Dong X,Abecasis G,Berndt S,Bezieau S,Brenner H,Caan B,Casey G,Chang-Claude J,Chanock S,Chen S,Connolly C,Curtis K,Figueiredo J,Gala M,Gallinger S,Harrison T,Hoffmeister M,Hopper J,Huy

更新日期：2018-05-03 00:00:00

abstract：:Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically ...

journal_title：American journal of human genetics

authors： Mighell TL,Evans-Dutson S,O'Roak BJ

更新日期：2018-05-03 00:00:00

abstract：:N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of t...

journal_title：American journal of human genetics

authors： Cheng H,Dharmadhikari AV,Varland S,Ma N,Domingo D,Kleyner R,Rope AF,Yoon M,Stray-Pedersen A,Posey JE,Crews SR,Eldomery MK,Akdemir ZC,Lewis AM,Sutton VR,Rosenfeld JA,Conboy E,Agre K,Xia F,Walkiewicz M,Longoni M,H

更新日期：2018-05-03 00:00:00

abstract：:Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

journal_title：American journal of human genetics

authors： Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

更新日期：2018-04-05 00:00:00

abstract：:Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when delete...

journal_title：American journal of human genetics

authors： Sang Q,Li B,Kuang Y,Wang X,Zhang Z,Chen B,Wu L,Lyu Q,Fu Y,Yan Z,Mao X,Xu Y,Mu J,Li Q,Jin L,He L,Wang L

更新日期：2018-04-05 00:00:00

abstract：:Colorectal cancer (CRC) heritability has been estimated to be around 30%. However, mutations in the known CRC-susceptibility genes explain CRC risk in fewer than 10% of affected individuals. Germline mutations in DNA-repair genes (DRGs) have recently been reported in CRC, but their contribution to CRC risk is largely ...

journal_title：American journal of human genetics

authors： AlDubayan SH,Giannakis M,Moore ND,Han GC,Reardon B,Hamada T,Mu XJ,Nishihara R,Qian Z,Liu L,Yurgelun MB,Syngal S,Garraway LA,Ogino S,Fuchs CS,Van Allen EM

更新日期：2018-03-01 00:00:00

abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

journal_title：American journal of human genetics

authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

更新日期：2018-02-01 00:00:00

abstract：:Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease. Recent developments in sequencing technologies and computational biology have allowed...

journal_title：American journal of human genetics

authors： Park E,Pan Z,Zhang Z,Lin L,Xing Y

更新日期：2018-01-04 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypica...

journal_title：American journal of human genetics

authors： Luscan R,Mechaussier S,Paul A,Tian G,Gérard X,Defoort-Dellhemmes S,Loundon N,Audo I,Bonnin S,LeGargasson JF,Dumont J,Goudin N,Garfa-Traoré M,Bras M,Pouliet A,Bessières B,Boddaert N,Sahel JA,Lyonnet S,Kaplan J,Cowa

更新日期：2017-12-07 00:00:00

abstract：:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional a...

journal_title：American journal of human genetics

authors： Sanna-Cherchi S,Khan K,Westland R,Krithivasan P,Fievet L,Rasouly HM,Ionita-Laza I,Capone VP,Fasel DA,Kiryluk K,Kamalakaran S,Bodria M,Otto EA,Sampson MG,Gillies CE,Vega-Warner V,Vukojevic K,Pediaditakis I,Makar GS,M

更新日期：2017-11-02 00:00:00

abstract：:Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of ge...

journal_title：American journal of human genetics

authors： Starita LM,Ahituv N,Dunham MJ,Kitzman JO,Roth FP,Seelig G,Shendure J,Fowler DM

更新日期：2017-09-07 00:00:00

abstract：:Phenotypes are rarely consistent across genetic backgrounds and environments, but instead vary in many ways depending on allelic variants, unlinked genes, epigenetic factors, and environmental exposures. In the extreme, individuals carrying the same causal DNA sequence variant but on different backgrounds can be class...

journal_title：American journal of human genetics

authors： Riordan JD,Nadeau JH

更新日期：2017-08-03 00:00:00

abstract：:Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway...

journal_title：American journal of human genetics

authors： Panagiotou ES,Sanjurjo Soriano C,Poulter JA,Lord EC,Dzulova D,Kondo H,Hiyoshi A,Chung BH,Chu YW,Lai CHY,Tafoya ME,Karjosukarso D,Collin RWJ,Topping J,Downey LM,Ali M,Inglehearn CF,Toomes C

更新日期：2017-06-01 00:00:00

abstract：:Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively. A...

journal_title：American journal of human genetics

authors： Butcher DT,Cytrynbaum C,Turinsky AL,Siu MT,Inbar-Feigenberg M,Mendoza-Londono R,Chitayat D,Walker S,Machado J,Caluseriu O,Dupuis L,Grafodatskaya D,Reardon W,Gilbert-Dussardier B,Verloes A,Bilan F,Milunsky JM,Basran R,

更新日期：2017-05-04 00:00:00

abstract：:Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identifi...

journal_title：American journal of human genetics

authors： Ta-Shma A,Khan TN,Vivante A,Willer JR,Matak P,Jalas C,Pode-Shakked B,Salem Y,Anikster Y,Hildebrandt F,Katsanis N,Elpeleg O,Davis EE

更新日期：2017-04-06 00:00:00

abstract：:Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted...

journal_title：American journal of human genetics

authors： Jansen S,Geuer S,Pfundt R,Brough R,Ghongane P,Herkert JC,Marco EJ,Willemsen MH,Kleefstra T,Hannibal M,Shieh JT,Lynch SA,Flinter F,FitzPatrick DR,Gardham A,Bernhard B,Ragge N,Newbury-Ecob R,Bernier R,Kvarnung M,Mag

更新日期：2017-04-06 00:00:00

abstract：:Subcutaneous adipose tissue stores excess lipids and maintains energy balance. We performed expression quantitative trait locus (eQTL) analyses by using abdominal subcutaneous adipose tissue of 770 extensively phenotyped participants of the METSIM study. We identified cis-eQTLs for 12,400 genes at a 1% false-discovery...

journal_title：American journal of human genetics

authors： Civelek M,Wu Y,Pan C,Raulerson CK,Ko A,He A,Tilford C,Saleem NK,Stančáková A,Scott LJ,Fuchsberger C,Stringham HM,Jackson AU,Narisu N,Chines PS,Small KS,Kuusisto J,Parks BW,Pajukanta P,Kirchgessner T,Collins FS,G

更新日期：2017-03-02 00:00:00

abstract：:Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, t...

journal_title：American journal of human genetics

authors： Lim JS,Gopalappa R,Kim SH,Ramakrishna S,Lee M,Kim WI,Kim J,Park SM,Lee J,Oh JH,Kim HD,Park CH,Lee JS,Kim S,Kim DS,Han JM,Kang HC,Kim HH,Lee JH

更新日期：2017-03-02 00:00:00

abstract：:EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

journal_title：American journal of human genetics

authors： Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

更新日期：2017-02-02 00:00:00

abstract：:Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population...

journal_title：American journal of human genetics

authors： He Z,Zhang D,Renton AE,Li B,Zhao L,Wang GT,Goate AM,Mayeux R,Leal SM

更新日期：2017-02-02 00:00:00

abstract：:SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locu...

journal_title：American journal of human genetics

authors： Lee JYW,Hsu CK,Michael M,Nanda A,Liu L,McMillan JR,Pourreyron C,Takeichi T,Tolar J,Reid E,Hayday T,Blumen SC,Abu-Mouch S,Straussberg R,Basel-Vanagaite L,Barhum Y,Zouabi Y,Al-Ajmi H,Huang HY,Lin TC,Akiyama M,Lee

更新日期：2017-02-02 00:00:00

abstract：:Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-...

journal_title：American journal of human genetics

authors： Yan K,Rousseau J,Littlejohn RO,Kiss C,Lehman A,Rosenfeld JA,Stumpel CTR,Stegmann APA,Robak L,Scaglia F,Nguyen TTM,Fu H,Ajeawung NF,Camurri MV,Li L,Gardham A,Panis B,Almannai M,Sacoto MJG,Baskin B,Ruivenkamp C,Xi

更新日期：2017-01-05 00:00:00

abstract：:Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Decipherin...

journal_title：American journal of human genetics

authors： Sleven H,Welsh SJ,Yu J,Churchill MEA,Wright CF,Henderson A,Horvath R,Rankin J,Vogt J,Magee A,McConnell V,Green A,King MD,Cox H,Armstrong L,Lehman A,Nelson TN,Deciphering Developmental Disorders study.,CAUSES study.,

更新日期：2017-01-05 00:00:00

abstract：:Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals w...

journal_title：American journal of human genetics

authors： Assoum M,Philippe C,Isidor B,Perrin L,Makrythanasis P,Sondheimer N,Paris C,Douglas J,Lesca G,Antonarakis S,Hamamy H,Jouan T,Duffourd Y,Auvin S,Saunier A,Begtrup A,Nowak C,Chatron N,Ville D,Mireskandari K,Milani P

更新日期：2016-12-01 00:00:00

abstract：:Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. ...

journal_title：American journal of human genetics

authors： Di Donato N,Jean YY,Maga AM,Krewson BD,Shupp AB,Avrutsky MI,Roy A,Collins S,Olds C,Willert RA,Czaja AM,Johnson R,Stover JA,Gottlieb S,Bartholdi D,Rauch A,Goldstein A,Boyd-Kyle V,Aldinger KA,Mirzaa GM,Nissen A,Br

更新日期：2016-11-03 00:00:00

abstract：:Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental an...

journal_title：American journal of human genetics

authors： Flex E,Niceta M,Cecchetti S,Thiffault I,Au MG,Capuano A,Piermarini E,Ivanova AA,Francis JW,Chillemi G,Chandramouli B,Carpentieri G,Haaxma CA,Ciolfi A,Pizzi S,Douglas GV,Levine K,Sferra A,Dentici ML,Pfundt RR,Le Pi

更新日期：2016-10-06 00:00:00

abstract：:The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysopho...

journal_title：American journal of human genetics

authors： Johansen A,Rosti RO,Musaev D,Sticca E,Harripaul R,Zaki M,Çağlayan AO,Azam M,Sultan T,Froukh T,Reis A,Popp B,Ahmed I,John P,Ayub M,Ben-Omran T,Vincent JB,Gleeson JG,Abou Jamra R

更新日期：2016-10-06 00:00:00

abstract：:We analyzed genome-wide association studies (GWASs), including data from 71,638 individuals from four ancestries, for estimated glomerular filtration rate (eGFR), a measure of kidney function used to define chronic kidney disease (CKD). We identified 20 loci attaining genome-wide-significant evidence of association (p...

journal_title：American journal of human genetics

authors： Mahajan A,Rodan AR,Le TH,Gaulton KJ,Haessler J,Stilp AM,Kamatani Y,Zhu G,Sofer T,Puri S,Schellinger JN,Chu PL,Cechova S,van Zuydam N,SUMMIT Consortium.,BioBank Japan Project.,Arnlov J,Flessner MF,Giedraitis V,Heath

更新日期：2016-09-01 00:00:00

abstract：:The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the und...

journal_title：American journal of human genetics

authors： Kim JH,Shinde DN,Reijnders MRF,Hauser NS,Belmonte RL,Wilson GR,Bosch DGM,Bubulya PA,Shashi V,Petrovski S,Stone JK,Park EY,Veltman JA,Sinnema M,Stumpel CTRM,Draaisma JM,Nicolai J,University of Washington Center for Mende

更新日期：2016-09-01 00:00:00

abstract：:Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower ...

journal_title：American journal of human genetics

authors： Wallmeier J,Shiratori H,Dougherty GW,Edelbusch C,Hjeij R,Loges NT,Menchen T,Olbrich H,Pennekamp P,Raidt J,Werner C,Minegishi K,Shinohara K,Asai Y,Takaoka K,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer

更新日期：2016-08-04 00:00:00

abstract：:DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patel...

journal_title：American journal of human genetics

authors： Fenwick AL,Kliszczak M,Cooper F,Murray J,Sanchez-Pulido L,Twigg SR,Goriely A,McGowan SJ,Miller KA,Taylor IB,Logan C,WGS500 Consortium.,Bozdogan S,Danda S,Dixon J,Elsayed SM,Elsobky E,Gardham A,Hoffer MJ,Koopmans M,

更新日期：2016-07-07 00:00:00

abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

journal_title：American journal of human genetics

authors： Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

更新日期：2016-07-07 00:00:00