Education, Research, Patient Care qd

Publications

Please find a selection of the papers to which our Center has contributed below. More publications can be found on the Google Scholar pages for Dr. Nico Katsanis and Dr. Erica Davis.

Title Citation Source Publish Datesort ascending
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
February 08, 2018
Endoglin interacts with VEGFR2 to promote angiogenesis
January 11, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
January 09, 2018
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
November 02, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
November 02, 2017
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects
October 10, 2017
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
October 05, 2017
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism
September 29, 2017
Genetic drivers of kidney defects in the DiGeorge syndrome
September 14, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
September 07, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
August 17, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
July 08, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
April 06, 2017
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy
March 30, 2017
Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration
March 18, 2017
Mutations in TMEM260 cause a pediatric neurodevelopmental, cardiac, and renal syndrome

 

 
March 16, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
March 06, 2017
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss
March 01, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia micropthalmia syndrome
January 09, 2017
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
August 04, 2016
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
July 07, 2016
AMD and the alternative complement pathway: genetics and functional implications
June 21, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
May 13, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
February 18, 2016
A human laterality disorder caused by a homozygous deleterious mutation in MMP21
December 28, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
December 05, 2015
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
December 04, 2015
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
October 15, 2015
Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder.
September 30, 2015
In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.
September 17, 2015
Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans
September 15, 2015
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
August 25, 2015
Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration.
August 25, 2015
Identification of cis-suppression of human disease mutations by comparative genomics.
August 13, 2015
Evidence for fumonisin inhibition of ceramide synthase in humans consuming maize-based foods and living in high exposure communities in Guatemala.
August 12, 2015
Rapid and Efficient Generation of Transgene-Free iPSC from a Small Volume of Cryopreserved Blood.
August 11, 2015
A common variant near TGFBR3 is associated with primary open angle glaucoma.
July 01, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
June 18, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L, et al. Am J Hum Genet. 2015;97(2):343-352. 

June 06, 2015
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
June 04, 2015
Genetic modifiers and oligogenic inheritance.
June 01, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
May 29, 2015
Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.
May 26, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
May 07, 2015
Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly
May 06, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
April 13, 2015
An examination of the association between 5-HTTLPR, combat exposure, and PTSD diagnosis among U.S. veterans.
March 20, 2015
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
March 10, 2015
Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.

 

 

January 22, 2015
Alloimmunization in sickle cell disease: changing antibody specificities and association with chronic pain and decreased survival.

 

 

December 01, 2014
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans
October 25, 2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators
August 11, 2014
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
August 11, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
August 11, 2014
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome
July 15, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
March 18, 2014
Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari Type I malformation.
January 01, 2014
Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
April 19, 2013
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
February 26, 2012
MYH9 and APOL1 are both associated with sickle cell disease nephropathy.
November 13, 2011