Ehsan Ullah, Ph.D. @ehsanullahx
Geneticist | LGG | AAUR- QAU - UCSF | RTs are not endorsements! Opinions are my own! 🇵🇰🇺🇸 Maryland, USA Joined August 2022-
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Thrilled to share our new @NatureComms paper! We identified NR6A1 variants causing a novel oculo-vertebral-renal syndrome, bringing answers to a family after 20 years. Read more: rdcu.be/euFcZ #RareDisease #Genomics @NatEyeInstitute #GeneChat @NIH
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Ehsan Ullah, Ph.D. retweeted
The new Disney Pixar movie Elio has the main character sporting an eye patch. This seems like a good time to spread the word about amblyopia, the treatment for it, and #NIHfunded research on brain-based causes of vision loss. brnw.ch/21wU0DC
Ehsan Ullah, Ph.D. retweeted
Congratulations to Steven J Fliesler, PhD, for receiving the 2025 Stockton Kimball Award in recognition of outstanding scientific achievement and service. #NIHfunded #retina @Jacobs_Med_UB Details: brnw.ch/21wTrp8
Ehsan Ullah, Ph.D. retweeted
RT @FranMartinezGr: Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS) #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…
Ehsan Ullah, Ph.D. retweeted
RT @FranMartinezGr: Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation #RareDisease #Genetics #morbidgene cell.com/hgg-advances/f…
Ehsan Ullah, Ph.D. retweeted
RT @StefanBarakat: New international collaborative work incl. our discovery team describing mutations in the noncoding gene RNU2-2 as a cause of a neurodevelopmental disorder #ErasmusMC @SinaiGenetics @NatureGenet #WGS #epilepsy #NDD #ReNUSyndromeUnite… nature.com/articles/s4158…
Ehsan Ullah, Ph.D. retweeted
From @LMU_Muenchen (Germany): researchers found that distant evolutionary relatives of lacewing larvae, preserved in amber for more than 100 million years, already had sophisticated eyes, much like their more modern counterparts. @Insect_Science: brnw.ch/21wRkAp
Awesome work from some of my dear colleagues and friends!
Awesome work from some of my dear colleagues and friends!
Our collaborative work is online now! #GeneChat #MedGenet #MedTwitter #GeneX frontiersin.org/journals/cell-…
Our preprint! #genechat #MedTwitter #medgenet
Our preprint! #genechat #MedTwitter #medgenet
Ehsan Ullah, Ph.D. retweeted
Excited to announce Dr. Farran Briggs will join @NatEyeInstitute as Senior Investigator in the Laboratory of Sensorimotor Research. Most recently at @UofR, Briggs brings an impressive record of #optogenetics & functional ultrasound research, charismatic training & mentoring.
Ehsan Ullah, Ph.D. retweeted
Is there synergistic heterozygosity in double heterozygotes of pathogenic variants in SLC3A1 and SLC7A9? bit.ly/3YC5LHm #Cystinuria #PopulationGenetics
Thank you #ASHG2024 ! It was a yet another great meeting! Thank you @GeneticsSociety ! #MEDTwitter #genechat #bioinformatics #medgenetic
Ehsan Ullah, Ph.D. retweeted
BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements medrxiv.org/content/10.110…
Ehsan Ullah, Ph.D. retweeted
Ehsan Ullah, Ph.D. retweeted
Luis Paulin on detection of mosaics structural variation with Sniffles2 #ASHG24
I will present a poster on molecular diagnosis of optic atrophy! Follow the attached image for details! It is great to be back at #ashg24 this year in Denver CO.
Ehsan Ullah, Ph.D. retweeted
Giovanni Quinones-Valdez on long read RNA seq to study alternative splicing #ASHG24
Ehsan Ullah, Ph.D. retweeted
There is always room for improvement! Bayesian point system reduces #VUS rates for #cancer predisposition genes compared to the #ACMG/AMP2015 guidelines bit.ly/48Cct4W @m_eldomery
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