Lara Kamal

发表

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci

Manuela Pendziwiat, I. Helbig, K. Klein, 2019, Epilepsia.

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

T. Walsh, M. King, Ming K. Lee, 2016, European Journal of Human Genetics.

The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

I. Chowers, A. Swaroop, D. Sharon, 2019, Acta ophthalmologica.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

T. Walsh, M. King, Ming K. Lee, 2016, Neurology.

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

L. Carmel, E. Levy-Lahad, D. Zangen, 2015, Journal of Medical Genetics.

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

M. King, S. Pierce, B. Norquist, 2020, Cold Spring Harbor molecular case studies.

Genomic analysis of inherited hearing loss in the Palestinian population

T. Walsh, M. King, Ming K. Lee, 2020, Proceedings of the National Academy of Sciences.

The noncoding genome and hearing loss

K. Avraham, S. Taiber, Lara Kamal, 2021, Human Genetics.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53

Tom Walsh, Mohammad Salahat, T. Walsh, 2017, International journal of cancer.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

T. Walsh, M. King, N. Shomron, 2020, bioRxiv.

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Daniel Vincent, F. Glaser, S. Stanton, 2022, Human Genetics.

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

L. Carmel, E. Levy-Lahad, D. Zangen, 2015, Journal of Medical Genetics.