Rizwana Hamid

发表

Runoff quality prediction from small urban catchments using SWMM

V. Tsihrintzis, Rizwana Hamid, 1998 .

Use of Geographic Information Systems (GIS) in water resources: A review

V. Tsihrintzis, Rizwana Hamid, H. Fuentes, 1996 .

Health Supervision for Children and Adolescents With Down Syndrome.

Randall W. Grout, J. A. Scott, J. Stoler, 2022, Pediatrics.

Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.

Donna M. Martin, P. Appelbaum, J. Wynn, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

How Accurate is Your Flow Input

Rizwan Hamid, Rizwana Hamid, 2007 .

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Modeling and Management of Urban Stormwater Runoff Quality: A Review

V. Tsihrintzis, Rizwana Hamid, VASSILIOS A. TSIHRINTZIS, 1997 .

URBAN STORMWATER QUANTITY/QUALITY MODELING USING THE SCS METHOD AND EMPIRICAL EQUATIONS 1

V. Tsihrintzis, Rizwana Hamid, 1997 .

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

Ellen F. Macnamara, J. Rosenfeld, L. Bastarache, 2023, American journal of medical genetics. Part A.

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

F. Parl, J. Cogan, J. Cogan, 2009, European Respiratory Journal.

A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

J. Cogan, J. Phillips, Rizwana Hamid, 2023, American journal of medical genetics. Part A.

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

Undiagnosed Diseases Network, J. Newman, J. Fessel, 2023, Metabolites.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Antecedents of Dividend Policy: Empirical Evidence from Banking Sector of Pakistan

Rizwana Hamid, Muhammad Yaqub, Muhammad Mehmood Hussain Awan, 2016 .

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.