Nicholas Katsanis

Nicholas Katsanis's AcademicInfluence.com Rankings

Nicholas Katsanis

Biology

#9898

World Rank

#13161

Historical Rank

Genetics

#1026

World Rank

#1124

Historical Rank

Molecular Biology

#1392

World Rank

#1419

Historical Rank

biology Degrees

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)

(See a Problem?)

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:

Nicholas Katsanis's Academic­Influence.com Rankings

Nicholas Katsanis's Degrees

Why Is Nicholas Katsanis Influential?

Nicholas Katsanis's Published Works

Published Works

What Schools Are Affiliated With Nicholas Katsanis?

Image Attributions

Nicholas Katsanis's AcademicInfluence.com Rankings