Nicholas Katsanis
#140,240
Most Influential Person Now
Researcher
Nicholas Katsanis's AcademicInfluence.com Rankings
Nicholas Katsanisbiology Degrees
Biology
#9898
World Rank
#13161
Historical Rank
Genetics
#1026
World Rank
#1124
Historical Rank
Molecular Biology
#1392
World Rank
#1419
Historical Rank

Download Badge
Biology
Nicholas Katsanis's Degrees
- PhD Genetics Johns Hopkins University
- Masters Molecular Biology Johns Hopkins University
Why Is Nicholas Katsanis Influential?
(Suggest an Edit or Addition)Nicholas Katsanis's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 (2005) (1593)
- The ciliopathies: an emerging class of human genetic disorders. (2006) (1138)
- A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants (2015) (1024)
- Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia (2016) (831)
- Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene (2004) (776)
- Seven New Loci Associated with Age-Related Macular Degeneration (2013) (741)
- The Vertebrate Primary Cilium in Development, Homeostasis, and Disease (2009) (703)
- Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome (2003) (691)
- Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder (2001) (650)
- Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (2005) (606)
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development (2014) (599)
- A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition (2011) (594)
- Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration (2010) (508)
- Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) (2010) (426)
- The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression (2004) (417)
- Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response (2007) (404)
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (2008) (401)
- Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. (2004) (390)
- Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse (2004) (371)
- Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. (2009) (365)
- Molecular genetic testing and the future of clinical genomics (2013) (354)
- Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission (2002) (344)
- Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis (2010) (343)
- Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome (2004) (343)
- Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling (2012) (341)
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (2011) (337)
- Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights (2016) (327)
- KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant (2012) (327)
- Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration (2013) (320)
- Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome (2000) (316)
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy (2010) (316)
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs (2011) (314)
- A rare penetrant mutation in CFH confers high risk of age-related macular degeneration (2011) (305)
- The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia (2006) (305)
- BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (2006) (292)
- Dissection of epistasis in oligogenic Bardet–Biedl syndrome (2006) (279)
- Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study (2005) (275)
- A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies (2009) (275)
- The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (2007) (271)
- CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors (2014) (266)
- Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration (2011) (264)
- The centrosome in human genetic disease (2005) (263)
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (2010) (261)
- Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. (2007) (249)
- Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (2003) (244)
- The oligogenic properties of Bardet-Biedl syndrome. (2004) (236)
- Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (2003) (234)
- Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy (2012) (233)
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (2008) (228)
- Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. (2008) (223)
- Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry (2011) (219)
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (2011) (216)
- Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis (2014) (210)
- DISC1-dependent switch from progenitor proliferation to migration in the developing cortex (2011) (209)
- Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. (2003) (208)
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. (2015) (206)
- TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. (2011) (192)
- An organelle-specific protein landscape identifies novel diseases and molecular mechanisms (2016) (189)
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. (2013) (189)
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (2013) (188)
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. (2015) (187)
- A functional variant in the CFI gene confers a high risk of age-related macular degeneration (2013) (183)
- MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis (2005) (177)
- Exploring the molecular basis of Bardet-Biedl syndrome. (2001) (171)
- Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. (2010) (171)
- Cilia in vertebrate development and disease (2012) (162)
- Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci. (1996) (161)
- Disruption of a ciliary B9 protein complex causes Meckel syndrome. (2011) (152)
- Epigenetic control of intestinal barrier function and inflammation in zebrafish (2015) (151)
- ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (2013) (148)
- Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. (2008) (147)
- The ciliopathies: a transitional model into systems biology of human genetic disease. (2012) (146)
- Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. (2012) (145)
- The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. (2006) (143)
- The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. (2001) (140)
- Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. (2013) (136)
- Pitchfork regulates primary cilia disassembly and left-right asymmetry. (2010) (131)
- Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease (2010) (125)
- Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome (2010) (124)
- SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (123)
- Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene (2013) (123)
- Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophy a (2010) (121)
- Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration (2010) (121)
- A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. (2010) (118)
- BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. (2002) (115)
- Identification of cis-suppression of human disease mutations by comparative genomics (2015) (113)
- Loss of delta catenin function in severe autism (2015) (113)
- Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome (2007) (112)
- Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. (2010) (111)
- Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model (2012) (110)
- Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity (2006) (108)
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia (2016) (108)
- RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. (2017) (107)
- Loss of Bardet–Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting (2011) (107)
- Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. (2015) (105)
- The continuum of causality in human genetic disorders (2016) (101)
- Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling* (2010) (101)
- Functional modules, mutational load and human genetic disease. (2010) (100)
- Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. (2016) (99)
- Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits (2020) (98)
- Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. (2012) (98)
- CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (2015) (96)
- Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies (2015) (93)
- Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. (2002) (92)
- Genetic modifiers and oligogenic inheritance. (2015) (91)
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome (2017) (91)
- Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals (2010) (91)
- Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma (2014) (89)
- DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. (2016) (88)
- TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations (2015) (87)
- Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus (2012) (87)
- TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone (2015) (86)
- Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. (2009) (85)
- Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development (2014) (85)
- A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans (2014) (85)
- Genetic variation across the human olfactory receptor repertoire alters odor perception (2017) (84)
- Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. (2013) (82)
- Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. (2001) (81)
- Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins (2009) (81)
- Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. (2012) (81)
- Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly (2011) (80)
- Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease (2007) (80)
- Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. (2014) (80)
- Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. (2014) (79)
- The Genetic Basis of Hydrocephalus. (2016) (77)
- The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (2015) (77)
- SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. (2013) (77)
- Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. (2014) (76)
- Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function (2007) (76)
- Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal Dystrophy (2011) (75)
- A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3. (1998) (75)
- Endoglin mediates fibronectin/α5β1 integrin and TGF‐β pathway crosstalk in endothelial cells (2012) (75)
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. (2015) (74)
- Ciliary function and Wnt signal modulation. (2008) (74)
- Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 (2001) (72)
- Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (2009) (71)
- Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly (2015) (69)
- Metabolic regulation and energy homeostasis through the primary Cilium. (2015) (68)
- Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies (2013) (67)
- Context-dependent regulation of Wnt signaling through the primary cilium. (2013) (66)
- Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007) (66)
- A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. (2010) (66)
- KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV (2012) (64)
- Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. (2015) (64)
- Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency (2014) (63)
- A cross-disorder dosage sensitivity map of the human genome (2021) (63)
- Interpreting human genetic variation with in vivo zebrafish assays. (2014) (63)
- In vivo modeling of the morbid human genome using Danio rerio. (2013) (62)
- OTX2 mutations contribute to the otocephaly-dysgnathia complex (2012) (62)
- BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies (2015) (62)
- Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder (2015) (62)
- An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes (2008) (61)
- Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. (2015) (59)
- AMD and the alternative complement pathway: genetics and functional implications (2016) (59)
- Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. (2011) (59)
- De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. (2015) (58)
- RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. (2015) (58)
- Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. (2011) (57)
- Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. (2010) (56)
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (56)
- Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease (2009) (55)
- Triallelic inheritance: a bridge between Mendelian and multifactorial traits (2004) (54)
- Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. (2017) (53)
- Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits (2017) (53)
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. (2015) (52)
- Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (2015) (52)
- SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. (2019) (52)
- Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability (2017) (51)
- Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. (1999) (51)
- Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms (2011) (50)
- Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. (2014) (50)
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2018) (49)
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (2017) (49)
- Temperature-activated ion channels in neural crest cells confer maternal fever–associated birth defects (2017) (48)
- An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 (1995) (47)
- Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation (2012) (47)
- Loss of d-catenin function in severe autism (2015) (47)
- Genetic architecture of reciprocal CNVs. (2013) (46)
- A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS. (2015) (46)
- BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. (2015) (45)
- Endoglin interacts with VEGFR2 to promote angiogenesis (2018) (45)
- Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis (2012) (45)
- A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis (2017) (44)
- An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. (1995) (44)
- Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction (2015) (44)
- In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress (2015) (44)
- Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy. (2015) (43)
- Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish (2013) (43)
- A human laterality disorder caused by a homozygous deleterious mutation in MMP21 (2015) (43)
- Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. (2018) (42)
- Microtubule transport defects in neurological and ciliary disease (2005) (41)
- Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome (2011) (41)
- TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. (2013) (41)
- Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene (1997) (40)
- Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas (2013) (39)
- New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. (2001) (38)
- A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features (2018) (38)
- A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes (2002) (37)
- Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. (2014) (37)
- Ectopic overexpression of Sonic Hedgehog (Shh) induces stromal expansion and metaplasia in the adult murine pancreas. (2011) (36)
- An Age-Old Problem (2007) (36)
- Rapid and Efficient Generation of Transgene-Free iPSC from a Small Volume of Cryopreserved Blood (2015) (36)
- A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. (2014) (35)
- Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. (2015) (34)
- Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae (2021) (34)
- Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae ubc7 gene. (1998) (33)
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (2017) (33)
- Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry* (2014) (33)
- Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. (2018) (33)
- Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network (2016) (33)
- Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. (2019) (33)
- Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia. (2019) (32)
- An evaluation of the draft human genome sequence (2001) (31)
- Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion (2019) (31)
- Prevalence and severity of fuchs corneal dystrophy in Tangier Island. (2011) (31)
- The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling (2017) (31)
- Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development (2019) (30)
- The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. (2013) (30)
- Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998 (1999) (29)
- Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio (2018) (29)
- Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (2020) (28)
- Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions (2019) (28)
- A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration (2020) (28)
- Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration (2015) (28)
- A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. (2014) (27)
- A Genocentric Approach to Discovery of Mendelian Disorders. (2019) (27)
- Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration (2018) (27)
- The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. (2017) (27)
- Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus. (2009) (27)
- Small molecule intervention in microtubule-associated human disease. (2005) (27)
- Zebrafish assays of ciliopathies. (2011) (25)
- Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy (2017) (24)
- Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. (2014) (23)
- Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome (2018) (23)
- Life without Centrioles: Cilia in the Spotlight (2006) (23)
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (23)
- Ciliary proteins and exencephaly (2006) (22)
- Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. (2020) (22)
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
- Newborn screening and the era of medical genomics. (2015) (19)
- Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. (2019) (19)
- Localisation of receptor interacting protein140 (RIP140) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome (1998) (19)
- Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup’ik Eskimo Populations (2008) (19)
- Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. (2019) (19)
- Neuroanatomical and behavioral deficits in mice haploinsufficient for Pericentriolar material 1 (Pcm1) (2015) (18)
- Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation (1996) (18)
- Contactless, programmable acoustofluidic manipulation of objects on water. (2019) (18)
- ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss (2017) (18)
- Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice (2014) (17)
- Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. (2021) (17)
- Meta-analysis fine-mapping is often miscalibrated at single-variant resolution (2022) (17)
- Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 (2000) (17)
- Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes (2013) (17)
- Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy (2018) (17)
- Genetics and functions of the retinoic acid pathway, with special emphasis on the eye (2019) (17)
- BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1 (2017) (16)
- Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes (2012) (16)
- A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome (2020) (16)
- Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (2005) (16)
- The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome (1996) (16)
- CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module (2020) (16)
- UKCCCR guidelines for the use of cell lines in cancer research (1999) (15)
- Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. (2017) (15)
- Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome (2017) (15)
- CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age (2019) (14)
- A manually curated functional annotation of the human X chromosome (2005) (14)
- The complexity of the cilium: spatiotemporal diversity of an ancient organelle. (2018) (14)
- Thermosensory and mechanosensory perception in human genetic disease. (2009) (13)
- Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. (2000) (13)
- Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome (2013) (13)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (12)
- A NEW FORM OF INHERITED THROMBOCYTOPENIA CAUSED BY LOSS-OF-FUNCTION MUTATIONS IN PTPRJ (2018) (12)
- Age-severity relationships in families linked to FCD2 with retroillumination photography. (2010) (12)
- High-resolution comparative physical mapping of mouse Chromosome 10 in the region of homology with human Chromosome 21 (1999) (11)
- A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss (2021) (10)
- Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation (2019) (10)
- Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome (2020) (10)
- Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration (2017) (10)
- From association to causality: the new frontier for complex traits (2009) (9)
- High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. (1998) (9)
- Cell polarization defects in early heart development. (2007) (9)
- Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway (2015) (8)
- Replication of the TCF 4 Intronic Variant in Late-Onset Fuchs Corneal Dystrophy and Evidence of Independence from the FCD 2 Locus (2011) (8)
- Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (2006) (8)
- Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5 (2019) (8)
- Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT (2014) (7)
- Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. (2019) (7)
- The potential of DISC1 protein as a therapeutic target for mental illness (2016) (7)
- Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018)) (2017) (7)
- Whirlin associates with the Ca v 1.3 ( 1D ) channels in photoreceptors, defining a novel member of the Usher protein network (2009) (6)
- Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos? (2007) (6)
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. (2021) (6)
- The immunophilin FKBP4 (FKBP52/ FKBP59) maps to the distal short arm of human Chromosome 12 (1998) (6)
- An evaluation of the draft human genome sequence (2001) (6)
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2019) (6)
- Correction: In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress (2015) (6)
- Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. (2020) (6)
- Exome and genome sequencing of neonates with neurodevelopmental disorders (2012) (5)
- Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. (2021) (5)
- Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076) (2010) (5)
- The Bardet-Biedl and Alstrom Syndromes (2003) (5)
- PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia (2020) (5)
- Endoglin interacts with VEGFR 2 to promote angiogenesis (2018) (4)
- Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus (2019) (4)
- Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998. (1999) (4)
- Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci (1996) (4)
- Understanding cargo specificity in intraflagellar transport (2011) (4)
- Dissecting intraflagellar transport, one molecule at a time. (2014) (4)
- Mitochondrial Copy Number as a Biomarker for Autism? (2016) (3)
- Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits (2020) (3)
- Implicated in Autosomal-Recessive Congenital Stationary Night Blindness (2010) (3)
- Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions (2018) (3)
- Point: Treating Human Genetic Disease One Base Pair at a Time: The Benefits of Gene Editing. (2018) (3)
- Next-generation sequencing of the human olfactory receptors. (2013) (3)
- TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. (2020) (3)
- Identification of novel genes expressed during metanephric induction through single-cell library screening (2000) (3)
- Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress (2022) (2)
- Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact With a Novel Locus on 9p (2010) (2)
- Zebrafish: A Model System to Study the Architecture of Human Genetic Disease (2017) (2)
- Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (2016) (2)
- Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003)) (2017) (2)
- Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (2)
- Identification of novel genes expressed during metanephric induction through single-cell library screening. (1999) (2)
- Polyketide Synthase Plays a Conserved Role in Otolith Formation. (2019) (2)
- Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (2011) (2)
- Candidate variants in TUB are associated with familial tremor (2020) (2)
- The role of SIX6 in primary open-angle glaucoma (2013) (1)
- Renal cystic disease: from mechanisms to drug development (2013) (1)
- From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape (2015) (1)
- A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay (2016) (1)
- Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy (2020) (1)
- Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research (2022) (1)
- Faculty Opinions recommendation of Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. (2015) (1)
- Abstracts from the 50th European Society of Human Genetics Conference: Oral Presentations (2018) (1)
- Chapter 18 – Molecular Genetic Testing and the Future of Clinical Genomics1 (2017) (1)
- Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21 (1997) (1)
- Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A (2017) (1)
- Neurobiology of Disease Rbm 8 a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly (2015) (1)
- Neuroscience: Imprinting in the brain (2011) (1)
- Bardet‐Biedl Syndrome, an Oligogenic Disease (2007) (1)
- Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene (2019) (1)
- Basal body dysfunction likely underlies the pleiotropic phenotype of Bardet-Biedl syndrome. (2003) (1)
- Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits (2017) (1)
- A Centrosomal Protein Molecularly Links Usher Syndrome to Leber Congenital Amaurosis and Bardet-Biedl Syndrome in the Retina (2008) (1)
- Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. (2021) (1)
- Abstract 21431: Identification of the Receptor Tyrosine Kinase Tie1 as a Novel Akt Substrate: Requirement for Tie1 Phospho-T794 in Vascular Development (2010) (0)
- defects and compromised intraflagellar transport BBS-7 and BBS-8 protein function results in cilia (2007) (0)
- COURSE II The Impact of Human Genetics and Genomics in Neurobiology Organized (2015) (0)
- Mutations In The Recessive Deafness Locus Loxhd1 Cause Dominant Late-onset Fuchs Corneal Dystrophy (2012) (0)
- Ciliopathies and oligogenic phenomena (2015) (0)
- Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability (2017) (0)
- Replication Of Association And Linkage To The FCD2/TCF4 Locus On Chromosome 18 In Fuchs Endothelial Corneal Dystrophy (2011) (0)
- The familial obesity protein BBS4 targets PCM1 to the pericentriolar region and is required for microtubule anchoring and cell cycle progression (2004) (0)
- Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms (2016) (0)
- Quantified: Sweden (2006) (0)
- Genetics and functions of the retinoic acid pathway, with special emphasis on the eye (2019) (0)
- A 342kb ready-to-sequence PAC and cosmid contig with full EcoRI/SMAI restriction map between markers ACTL5 and D21S268 within the Down syndrome region-2. (1998) (0)
- Rapid and Efficient Generation of Transgene-Free iPSC from a Small Volume of Cryopreserved Blood (2015) (0)
- An intronic TCF4 tri-nucleotide repeat expansion associated with Fuchs Corneal Dystrophy (2013) (0)
- Faculty Opinions recommendation of Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. (2015) (0)
- Towards identifying therapeutic targets of MECP2 deficiency (2018) (0)
- Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome (2017) (0)
- An improved protocol for the analysis of Sod1 gene mutations: screening of UK ALS families. (1994) (0)
- Regulation of neuroblast competence in Drosophila (0)
- Errata: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (Genome Research (2015) 25 (155-166)) (2015) (0)
- IFT and total mutational load (2012) (0)
- The Bardet Biedl Protein BBS4 is Required for Light-Dependent Protein Transport in Photoreceptors (2007) (0)
- Next Generation Sequencing to Identify the Genetic Basis of late-onset Fuchs Corneal Dystrophy (2011) (0)
- Progression of Fuchs Corneal Dystrophy in a Family With a Genotype Linked to the Locus at 13ptel-13q12.13 (2009) (0)
- Faculty Opinions recommendation of Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. (2015) (0)
- Collagen 2A1 Isoforms Delineate Stickler/Wagner Syndrome Phenotypes (2012) (0)
- cDNA selection from human chromosome 21. (1995) (0)
- Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion (2019) (0)
- Adding to the transcription map of HSA21. (1997) (0)
- BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1 (2017) (0)
- Gclc deletion in surface-ectoderm tissues induces microphthalmia (2019) (0)
- Unravelling the Genetic Basis of ACTH-Mediated Aldosterone Hypersecretion in Hypertensive Patients Without Primary Aldosteronism (2021) (0)
- The Novel Cilia Protein Ttc21b Is Required for Normal Photoreceptor Sensory Cilia and Renal Primary Cilia Formation (2009) (0)
- Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome (2018) (0)
- Next Generation Sequencing Reveals A Novel Gene Mutation in Primary Congenital Glaucoma Patients (2013) (0)
- Exome Sequencing Identification of a Novel Causal Mutation for Eyelid Dysplasia (2013) (0)
- Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1 (2015) (0)
- 2017 Curt Stern Award: The Complexity of Simple Genetics. (2018) (0)
- STRUCTURE AND FUNCTION OF THE CILIUM– CENTROSOME COMPLEX (2013) (0)
- Subject Index Vol. 86, 1999 (1999) (0)
- Faculty Opinions recommendation of Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. (2015) (0)
- Digenic inheritance of heterozygous RP1L1 and C2orf71 variants in syndromic retinitis pigmentosa (2015) (0)
- A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly (2018) (0)
- Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (2008) (0)
- The continuum of causality in human genetic disorders (2016) (0)
- Expression Analyses of TTC21B Mutants in mIMCD3 and Rat Retinal Photoreceptors (2010) (0)
- Evidence for triallelic inheritance in Bardet-Biedl syndrome, a recessive, genetically heterogeneous and pleiotropic disorder. (2001) (0)
- Sixth International Workshop on Human Chromosome 11 Mapping, Nice, Paris, 2-5 May, 1998 (1999) (0)
- A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features (2018) (0)
- AMD and the alternative complement pathway: genetics and functional implications (2016) (0)
- Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights (2018) (0)
- Faculty Opinions recommendation of Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. (2010) (0)
- Faculty Opinions recommendation of Dual and opposing roles of primary cilia in medulloblastoma development. (2009) (0)
- of papers presented at the fourteenth Genetics Society’s Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 3 and 4 2003 (2004) (0)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (0)
- Expanded Genome-wide Linkage Scan for Fuchs Endothelial Corneal Dystrophy (2009) (0)
- Characterization of Fuchs Corneal Dystrophy phenotype in a TCF8 knock-in mouse model (2016) (0)
- AGBL1 implicated in the pathogenesis of late-onset FCD and interacts with TCF4 (2013) (0)
- Cornea Expansion of CTG 18 . 1 Trinucleotide Repeat in TCF 4 Is a Potent Driver of Fuchs ’ Corneal Dystrophy (2015) (0)
- Excess of Females in Fuchs Corneal Dystrophy (2009) (0)
- Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics (2015) (0)
- De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum (2015) (0)
- Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research (2022) (0)
- Abstract 18703: Novel MicroRNA 874 is a Unique Angiogenic Modulator of Stem Cell Paracrine Factor Epidermacan (2012) (0)
- SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease” (2012) (0)
- Comparative environmental assessment of innovative technologies for pavements (2011) (0)
- The Bardet–Biedl and orofacial digital type 1 ciliopathies (2013) (0)
- Faculty Opinions recommendation of DYX1C1 is required for axonemal dynein assembly and ciliary motility. (2015) (0)
- Genome-Wide Association Study of Advanced Age-Related Macular Degeneration Identifies a New Susceptibility Locus in the Lipid Metabolism Pathway, Hepatic Lipase (LIPC) (2010) (0)
- Faculty Opinions recommendation of Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (2015) (0)
- Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) (2014) (0)
- Interaction of RPGR With Selected BBS Proteins Is Perturbed in Retinal Ciliopathies (2009) (0)
- Faculty Opinions recommendation of MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. (2015) (0)
- Contents Vol. 1, 2010 (2011) (0)
- Bardet-Biedl Syndrome: Identification of Two New Genes (Bbs10 and Bbs12) Defines a New Vertebrate Specific Chaperonine-Like Family (2007) (0)
- Central role for DYF-11/MIP-T3 in assembling kinesin motor-intraflagellar transport complexes (2016) (0)
- Author response for "A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome" (2020) (0)
- Genetics Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG 2 as a Candidate Gene for Age-Related Macular Degeneration (2019) (0)
- Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect (2014) (0)
- Faculty Opinions recommendation of Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (2015) (0)
- Bioinformatic prediction and in vivo validation of residue-residue interactions in human proteins (2014) (0)
- SSIEM 2015 Annual Symposium (2015) (0)
- Ciliary Syndromes and Obesity (2011) (0)
- Retroillumination Photographic Documentation of Age-Severity of Fuchs Corneal Dystrophy in Families Linked to FCD2 (2010) (0)
- Mutations in SLC4A11 Implicated in Fuchs Corneal Dystrophy (2009) (0)
- The role of a single olfactory receptor in odorant perception: relating receptor space to perceptual space (2014) (0)
- RAC1 missense mutations cause diverse phenotypes and define Rhopathies as a new group of developmental disorders (2019) (0)
- Bridging the gap between monogenic and multifactorial disease: the Bardet-Biedl syndrome (2003) (0)
- SAT-LB071 Loss of Function (LoF) mutations in TCF12 Cause Autosomal Dominant Kallmann Syndrome and Reveal Network-level Interactions Between Causal Loci (2019) (0)
- A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration (2020) (0)
- [Correspondence] A manually curated functional annotation of the human X chromosome (2005) (0)
This paper list is powered by the following services:
What Schools Are Affiliated With Nicholas Katsanis?
Nicholas Katsanis is affiliated with the following schools: