Ehsan Ullah, Ph.D.

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

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

@ehsanullahx @Inam_Ullah1980 @hamzashafqaat @SardarZimri May Allah make it successful and grant him a quick recovery. Ameen

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

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

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

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

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…

RT @FranMartinezGr: Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation #RareDisease #Genetics #morbidgene cell.com/hgg-advances/f…

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… #article-info" target="_blank" rel="nofollow noopener">nature.com/articles/s4158…

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!

Our collaborative work is online now! #GeneChat #MedGenet #MedTwitter #GeneX frontiersin.org/journals/cell-…

Our preprint! #genechat #MedTwitter #medgenet

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.

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

بریکنگ نیوز:2انتہائی اہم لوگوں کی عمران خان سے ملاقات بڑوں کا پیغام پہنچا یاگیا:خان کاجھکنے سے انکار پی ٹی آئی حکومت کے لئے تیار:بڑی خبر ⁦@ImranKhanPTI⁩ ⁦@akhan4pakistan⁩ ⁦@BilawalHus17752⁩ ⁦@SaraMirGilgity⁩ youtu.be/BO7o6RJPiQE?si…

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

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…

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

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.