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In Vitro and In Vivo Evaluation of the Antifungal Activity of APX001A/APX001 against Candida auris

Antimicrobial agents and chemotherapy, 2018-03, Vol.62 (3)

2018

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

American journal of human genetics, 2023-02, Vol.110 (2), p.215-227

2023

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C

BMC medical genomics, 2013-01, Vol.6 (1), p.1-1, Article 1

2013

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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P664: Functional genomic studies resolve an OTUD6B deep intronic variant causing isoform imbalance

Genetics in Medicine Open, 2024, Vol.2, p.101569, Article 101569

2024

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P601: Clinical utility of MS-MLPA for the diagnosis of Prader-Willi/Angelman syndrome: The GGC experience

Genetics in Medicine Open, 2024, Vol.2, p.101507, Article 101507

2024

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Angelman syndrome with a 15q11q13 deletion in a mother and daughter

Clinical dysmorphology, 2022-04, Vol.31 (2), p.91-93

2022

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.544-552

2010

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The Drosophila Duox maturation factor is a key component of a positive feedback loop that sustains regeneration signaling

PLoS genetics, 2017-07, Vol.13 (7), p.e1006937-e1006937

2017

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Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

American journal of human genetics, 2010-08, Vol.87 (2), p.173-188

2010

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Regenerative growth is constrained by brain tumor to ensure proper patterning in Drosophila

PLoS genetics, 2023-12, Vol.19 (12), p.e1011103-e1011103

2023

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P549: Analysis of challenging products of conception cases with optical genome mapping: A preliminary study

Genetics in Medicine Open, 2023, Vol.1 (1), p.100596, Article 100596

2023

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Human molecular genetics, 2005-04, Vol.14 (8), p.1019-1027

2005

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

BMJ open, 2016-04, Vol.6 (4), p.e009537-e009537

2016

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SPONTANEOUS PNEUMOTHORAX IN A PATIENT WITH COVID-19

Pakistan Armed Forces medical journal, 2021-04, Vol.71 (2), p.716-18

2021

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Cell fate changes induced by a Distal-less enhancer-trap transgene in the Drosophila antennal imaginal disc

Scientific reports, 2018-03, Vol.8 (1), p.4950-13, Article 4950

2018

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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1917-n/a

2022

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Antimicrobial Sensitivity Pattern of Salmonella Typhi: Emergence of Resistant Strains

Curēus (Palo Alto, CA), 2020-11

2020

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Role of prognostic factors in understanding disease severity in COVID-19 patients: Pakistan ordinance factories Hospital experience

Journal of University Medical & Dental College, 2022-08, Vol.13 (3)

2022

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Evaluation of different sources of DNA for use in genome wide studies and forensic application

Applied microbiology and biotechnology, 2011-02, Vol.89 (3), p.807-815

2011

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Topology of a Human Equilibrative, Nitrobenzylthioinosine (NBMPR)-sensitive Nucleoside Transporter (hENT1) Implicated in the Cellular Uptake of Adenosine and Anti-cancer Drugs

The Journal of biological chemistry, 2001-11, Vol.276 (48), p.45270-45275

2001

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eP401: Comprehensive evaluation of genetic etiology underlying non-immune hydrops fetalis

Genetics in medicine, 2022-03, Vol.24 (3), p.S252-S253

2022

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eP346: The +5 position of the donor splice site and its role in genetic disorders

Genetics in medicine, 2022-03, Vol.24 (3), p.S216-S218

2022

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Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.176-183

2005

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In Vitro and In Vivo Evaluation of the Antifungal Activity of APX001A/APX001 against Candida auris

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

P664: Functional genomic studies resolve an OTUD6B deep intronic variant causing isoform imbalance

P601: Clinical utility of MS-MLPA for the diagnosis of Prader-Willi/Angelman syndrome: The GGC experience

Angelman syndrome with a 15q11q13 deletion in a mother and daughter

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

The Drosophila Duox maturation factor is a key component of a positive feedback loop that sustains regeneration signaling

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

Regenerative growth is constrained by brain tumor to ensure proper patterning in Drosophila

P549: Analysis of challenging products of conception cases with optical genome mapping: A preliminary study

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

SPONTANEOUS PNEUMOTHORAX IN A PATIENT WITH COVID-19

Cell fate changes induced by a Distal-less enhancer-trap transgene in the Drosophila antennal imaginal disc

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Antimicrobial Sensitivity Pattern of Salmonella Typhi: Emergence of Resistant Strains

Role of prognostic factors in understanding disease severity in COVID-19 patients: Pakistan ordinance factories Hospital experience

Evaluation of different sources of DNA for use in genome wide studies and forensic application

Topology of a Human Equilibrative, Nitrobenzylthioinosine (NBMPR)-sensitive Nucleoside Transporter (hENT1) Implicated in the Cellular Uptake of Adenosine and Anti-cancer Drugs

eP401: Comprehensive evaluation of genetic etiology underlying non-immune hydrops fetalis

eP346: The +5 position of the donor splice site and its role in genetic disorders

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

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