Ehsan Ullah, Ph.D.

Medical Geneticist | LGG | AAUR- QAU - UCSF | RTs are not endorsements! Opinions are my own! 🇵🇰🇺🇸

[Ehsan Ullah, Ph.D. @ehsanullahx]

I graduated from the Clinical Laboratory Genetics and Genomics Fellowship Program at @genome_gov ! Thank you everyone who were a part of this incredible journey !
Congratulations to my graduating friends, you all are really smart!
@GenomicsMatters @HufnagelLab
@TACGeneMD

[Ehsan Ullah, Ph.D. @ehsanullahx]

@nanamedico @Inam_Ullah1980 @hamzashafqaat @SardarZimri Ameen. Thank you Aisha!

[Ehsan Ullah, Ph.D. @ehsanullahx]

Dear friends!

I am requesting prayers for my elder brother @Inam_Ullah1980 , who will be shortly going through cardiac bypass surgery!
May Allah SWT bless him with speedy healing and complete recovery!

Ameen Summa Ameen
@hamzashafqaat @SardarZimri

[Ehsan Ullah, Ph.D. @ehsanullahx]

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: https://t.co/1ivCGJaCPp #RareDisease #Genomics @NatEyeInstitute #GeneChat @NIH

[Michael F. Chiang, MD @NEIDirector]

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.

https://t.co/acV8rR3bjQ

[Michael F. Chiang, MD @NEIDirector]

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: https://t.co/ZeXIuLu0aZ

[DiseaseGenes @DiseaseGenes]

RT @FranMartinezGr: Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS) #RareDisease #Genetics #morbidgene https://t.co/NUSfiNhTci

[DiseaseGenes @DiseaseGenes]

RT @FranMartinezGr: Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation #RareDisease #Genetics #morbidgene https://t.co/oDspjSu0YK

[DiseaseGenes @DiseaseGenes]

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… https://t.co/iCuWLgwla0

[Michael F. Chiang, MD @NEIDirector]

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: https://t.co/4CxHgdK8lq

[Ehsan Ullah, Ph.D. @ehsanullahx]

Awesome work from some of my dear colleagues and friends!

[DiseaseGenes @DiseaseGenes]

RT @FranMartinezGr: Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy #RareDisease #Genetics #morbidgene https://t.co/4T9PKBZWuI

[Ehsan Ullah, Ph.D. @ehsanullahx]

Our collaborative work is online now!
#GeneChat #MedGenet #MedTwitter #GeneX
https://t.co/Iyq4E9a4GA

[Ehsan Ullah, Ph.D. @ehsanullahx]

Our preprint!

#genechat #MedTwitter #medgenet

[DiseaseGenes @DiseaseGenes]

RT @FranMartinezGr: Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies #RareDisease #Genetics #morbidgene https://t.co/0OxTYIas7D

[Michael F. Chiang, MD @NEIDirector]

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. @ehsanullahx]

@chghussain @ImranKhanPTI @akhan4pakistan @BilawalHus17752 @SaraMirGilgity کیا صحافت یہی رہ گئی ہے کہ لوگوں کو ٹرک کی بتی کے پیچھے لگاو اور خود ریٹنگ بناو۔۔!!!

[Genetics in Medicine @GIMJournal]

Is there synergistic heterozygosity in double heterozygotes of pathogenic variants in SLC3A1 and SLC7A9? https://t.co/8b1DrHYhTk #Cystinuria #PopulationGenetics

[Ehsan Ullah, Ph.D. @ehsanullahx]

Thank you #ASHG2024 !
It was a yet another great meeting!

Thank you @GeneticsSociety !

#MEDTwitter #genechat #bioinformatics #medgenetic

[Stefan Barakat @StefanBarakat]

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements https://t.co/EamTkttM5r

[Alvin Ng @alvinwtng]

Sniffles2 @lfpaulin detects mosaic SVs with Alu insertions compared to short read sequencing. Time for long read sequencing to better identify these difficult variants! #ASHG24

[Alex Cagan @ATJCagan]

Luis Paulin on detection of mosaics structural variation with Sniffles2 #ASHG24

[Ehsan Ullah, Ph.D. @ehsanullahx]

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.