D. Ahram

发表

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.

A. Gharavi, K. Kiryluk, S. Sanna-Cherchi, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?

S. Sanna-Cherchi, V. Aggarwal, D. Ahram, 2020, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Craig S. Wong, H. Hakonarson, C. Willer, 2021, Journal of the American Society of Nephrology : JASN.

Multi-population genome wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome

V. Tasic, E. Fiaccadori, A. Gharavi, 2022, medRxiv.

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

M. H. Kuehn, R. Collin, D. Ahram, 2015, PloS one.

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

D. Ahram, S. Gerou, M. Kambouris, 2016, Clinical case reports.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Craig S. Wong, H. Hakonarson, A. Latos-Bieleńska, 2018, Nature Genetics.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families

O. Albagha, Eman K. Al-Dous, D. Ahram, 2021, Genes.

Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.

N. Katsanis, R. Sampogna, S. Sanna-Cherchi, 2021, Kidney international.

A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report

D. Ahram, M. Kambouris, Rowaida Z Taha, 2017, Clinical case reports.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, M. Tayeh, 2009, American journal of human genetics.

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

S. Mane, S. Somlo, S. Sanna-Cherchi, 2018, Human mutation.

GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the Ssbp2 Locus

V. D’Agati, A. Gharavi, S. Sanna-Cherchi, 2021, Journal of the American Society of Nephrology : JASN.

The genetic mechanisms of primary angle closure glaucoma

M. H. Kuehn, D. Ahram, W. Alward, 2015, Eye.

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

V. Jobanputra, V. D’Agati, S. Zacharoulis, 2022, Kidney international reports.

Identification of genetic loci associated with primary angle-closure glaucoma in the basset hound

Amy C. Cook, D. Ahram, S. Grozdanic, 2014, Molecular vision.

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

V. Jobanputra, V. D’Agati, A. Abhyankar, 2023, Kidney international reports.

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

S. Raychaudhuri, V. Tasic, R. Loos, 2023, Nature communications.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

A. Latos-Bieleńska, J. McKiernan, Shrikant Mane, 2023, Journal of the American Society of Nephrology : JASN.

UNM Digital Repository UNM Digital Repository

H. Hakonarson, I. Ionita-Laza, A. Latos-Bieleńska, 2022 .

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, H. El-Shanti, 2009, American journal of human genetics.

UNM Digital Repository UNM Digital Repository

C. Willer, I. Ionita-Laza, A. Latos-Bieleńska, 2022 .