Full Text Journal Articles by
Author Rizwan Hamid

Advertisement

Find full text journal articles






One is the loneliest number: genotypic matchmaking using the electronic health record.

Elly Brokamp, Mary E Koziura, John A Phillips, Leigh Anne Tang, Joy D Cogan, Lynette C Rives, Amy K Robertson, Laura Duncan, Anna Bican, Josh F Peterson, John H Newman, Rizwan Hamid, Lisa Bastarache, ,

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

Cited: 0 times

View full text PDF listing >>



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

Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E Antonarakis, Isis Atallah, Omer Bar-Yosef, Frédéric Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C Burrage, Björn U Christ, Jorge L Granadillo, Patricia Dickson, Kirsten A Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O'Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti-Furga, Isabelle Thiffault, Richard H van Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, , Eric Rush, Geoffrey Pitt, Ping Yee Billie Au, Vandana Shashi,

<h4>Purpose</h4>CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.<h4>Methods</h4>We ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

Lauren C Briere, Melissa A Walker, Frances A High, Cynthia Cooper, Cassandra A Rogers, Christine J Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A Caruso, Nutan Sharma, Elly Brokamp, Mary E Koziura, Shekeeb S Mohammad, Russell C Dale, Lisa G Riley, , John A Phillips, Masaaki Komatsu, David A Sweetser,

Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in <i>UBA5</i>, a gene involved in a ubiquitin-like post-translational modification system called UFMylation. Here we report five children from four families with biallelic pathogenic variants in <i>UBA5</i> All five children presented with global developmental ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2021, 7(3):]

Cited: 0 times

View full text PDF listing >>



Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.

Allyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, Rebecca C Spillmann, Heidi Cope, Queenie K-G Tan, Christina G S Palmer, , Stephen R Hooper, Vandana Shashi,

The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the ... Read more >>

J Genet Couns (Journal of genetic counseling)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, Sameer S Bajikar, Judy Peirce, Jeremy Wegner, Alia A Luna, Eric J Fox, Yi-Lin Yan, Jill A Rosenfeld, Jonathan Zirin, Oguz Kanca, , Paul J Benke, Eric S Cameron, Vincent Strehlow, Konrad Platzer, Rami Abou Jamra, Chiara Klöckner, Matthew Osmond, Thomas Licata, Samantha Rojas, David Dyment, Josephine S C Chong, Sharyn Lincoln, Joan M Stoler, John H Postlethwait, Michael F Wangler, Shinya Yamamoto, Joel Krier, Monte Westerfield, Hugo J Bellen,

<h4>Purpose</h4>Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, , Eric Vilain, Vandana Shashi,

<h4>Background</h4>Currently available structural variant (SV) detection methods do not span the complete spectrum of disease-causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically-relevant SVs in a 4-year-old male with an epileptic encephalopathy of undiagnosed molecular origin.<h4>Methods</h4>OGM was utilized ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2021, :e1665]

Cited: 0 times

View full text PDF listing >>



Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Beattie R H Sturrock, Ellen F Macnamara, Peter McGuire, Shannon Kruk, Ivan Yang, Jennifer Murphy, , Cyndi J Tifft, Eliza Gordon-Lipkin,

<h4>Background</h4>Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2021, 9(6):e1692]

Cited: 0 times

View full text PDF listing >>



Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

Dustin Baldridge, Michael F Wangler, Angela N Bowman, Shinya Yamamoto, , Tim Schedl, Stephen C Pak, John H Postlethwait, Jimann Shin, Lilianna Solnica-Krezel, Hugo J Bellen, Monte Westerfield,

Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challenging. Significant progress has been made, including advances by the National Institutes of Health (NIH)-funded Undiagnosed Diseases ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):206]

Cited: 0 times

View full text PDF listing >>



Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.

Cyndya A Shibao, Karen Joos, John A Phillips, Joy Cogan, John H Newman, Rizwan Hamid, Jens Meiler, John Capra, Jonathan Sheehan, Francesco Vetrini, Yaping Yang, Bonnie Black, André Diedrich, David Roberston, Italo Biaggioni,

<h4>Objective</h4>To determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure.<h4>Methods</h4>Two adult siblings from one family (I-4 and I-5) and another participant from a second family (II-3) presented with severe neurogenic orthostatic hypotension (nOH), small nonreactive pupils, and constipation. All ... Read more >>

Neurology (Neurology)
[2021, 97(2):e145-e155]

Cited: 1 time

View full text PDF listing >>



British Association of Urological Surgeons (BAUS) consensus document: management of bladder and ureteric injury.

Arun Sahai, Ased Ali, Rachel Barratt, Mohammed Belal, Suzanne Biers, Rizwan Hamid, Christopher Harding, Richard Parkinson, Sheilagh Reid, Nikesh Thiruchelvam, ,

Injuries to the bladder and ureter are uncommon but usually require prompt urological management. Due to their infrequent nature, Urologists maybe unfamiliar with managing these acute problems and may not work in specialist centres with readily available expertise in open and abdominal surgery. We aim to provide advice in the ... Read more >>

BJU Int (BJU international)
[2021, :]

Cited: 0 times

View full text PDF listing >>



British Association of Urological Surgeons (BAUS) and Nurses (BAUN) consensus document: management of the complications of long-term indwelling catheters.

Sheilagh Reid, Jane Brocksom, Rizwan Hamid, Ased Ali, Nikesh Thiruchelvam, Arun Sahai, Chris Harding, Suzanne Biers, Mo Belal, Rachel Barrett, Julia Taylor, Richard Parkinson,

<h4>Objective</h4>To look at best evidence and expert opinion to provide advice in the form of a consensus statement lead by Female, Neurological and Urodynamic Urology (FNUU) section of the British Association of Urological Surgeons (BAUS) in conjunction with the British Association of Urological Nurses (BAUN).<h4>Methods</h4>Initially a literature search was performed ... Read more >>

BJU Int (BJU international)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Prevalence of chronic pain following suburethral mesh sling implantation for post-prostatectomy incontinence.

Findlay MacAskill, Kieran Sheimar, Bogdan Toia, Denosshan Sri, Jai Seth, Davendra Sharma, Rizwan Hamid, Tamsin Greenwell, Jeremy Ockrim, Claire Taylor, Sachin Malde, Arun Sahai,

<h4>Purpose</h4>To evaluate postoperative pain and complications following AdVance™/AdVance™ XP male sling implantation.<h4>Materials and methods</h4>A multi-center retrospective medical notes review of patients implanted for bothersome post-prostatectomy incontinence was conducted. All patients were telephoned to provide further information on pain or further complications related to their surgery. Statistical evaluation utilized logistical regression ... Read more >>

Neurourol Urodyn (Neurourology and urodynamics)
[2021, 40(4):1048-1055]

Cited: 0 times

View full text PDF listing >>



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

Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A Stratakis, Nikolaos Settas, Edra London, Jill A Rosenfeld, Erin Torti, Chad Haldeman-Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F Nelson, Julian A Martinez-Agosto, Christina G S Palmer, Rebecca H Signer, , Marisa V Andrews, Dorothy K Grange, Rebecca Willaert, Richard Person, Aida Telegrafi, Aaron Sievers, Magdalena Laugsch, Susanne Theiß, YuZhu Cheng, Olivier Lichtarge, Panagiotis Katsonis, Amber Stocco, Christian P Schaaf,

<h4>Purpose</h4>We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA).<h4>Methods</h4>Variants of PRKAR1B were identified by single- or trio-exome analysis. We ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Functional outcomes of vaginal surgery for urethral extrusion of mid-urethral tape in women.

Bogdan Toia, Stephen Unterberg, Neha Sihra, Mahreen Pakzad, Rizwan Hamid, Jeremy L Ockrim, Tamsin J Greenwell,

<h4>Introduction and hypothesis</h4>We aim to determine the presentation of and immediate and longer-term outcomes of vaginal surgical excision of urethral extrusion of mid-urethral tape (MUT).<h4>Methods</h4>We performed a retrospective analysis of all patients with urethral extrusion of MUT having vaginal surgical excision between 2007 and 2018. The MUT was removed either ... Read more >>

Int Urogynecol J (International urogynecology journal)
[2021, :]

Cited: 0 times

View full text PDF listing >>



British Association of Urological Surgeons (BAUS) consensus document: Management of female voiding dysfunction.

Suzanne M Biers, Chris Harding, Mo Belal, Nikesh Thiruchelvam, Rizwan Hamid, Arun Sahai, Richard Parkinson, Rachel Barratt, Ased Ali, Sheilagh Reid, ,

<h4>Objectives</h4>To report the British Association of Urological Surgeon's (BAUS) guidance on the assessment and management of female voiding dysfunction.<h4>Methods</h4>A contemporary literature search was conducted to identify the evidence base. The BAUS Section of Female, Neurological and Urodynamic Urology (FNUU) Executive Committee formed a guideline development group to draw up and ... Read more >>

BJU Int (BJU international)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B Krier, Kimberly LeBlanc, Cecilia Esteves, Barbara N Pusey, Stephan Züchner, Elizabeth Blue, Hane Lee, Alden Huang, Lisa Bastarache, Anna Bican, Joy Cogan, Shruti Marwaha, Anna Alkelai, David R Murdock, Pengfei Liu, Daniel J Wegner, Alexander J Paul, , Shamil R Sunyaev, Isaac S Kohane,

<h4>Purpose</h4>Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although the computational tools incorporated into diagnostic workflows for this task are continually evolving and improving, we nevertheless sought to investigate commonalities across sequencing processing workflows to ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(6):1075-1085]

Cited: 0 times

View full text PDF listing >>



Shifting the treatment paradigm in idiopathic overactive bladder.

Arun Sahai, Mo Belal, Rizwan Hamid, Phillip Toozs-Hobson, Paraskeve Granitsiotis, Dudley Robinson,

<h4>Purpose</h4>Overactive Bladder (OAB) is a common condition that is known to have a significant impact on Health Related Quality of Life (HRQoL). Whilst all patients will initially benefit from lifestyle modifications and behavioural therapy in the first instance drug therapy remains integral in management pathways. The purpose of this review ... Read more >>

Int J Clin Pract (International journal of clinical practice)
[2021, 75(4):e13847]

Cited: 0 times

View full text PDF listing >>



AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

Johannes Birgmeier, Ethan Steinberg, Ethan Bodle, Cole Deisseroth, Karthik Jagadeesh, Jennefer Kohler, Devon Bonner, Shruti Marwaha, Julian Martinez-Agosto, Stan Nelson, Christina Palmer, Joy Cogan, Rizwan Hamid, Joan Stoler, Joel Krier, Jill Rosenfeld, Paolo Moretti, David Adams, Vandana Shashi, Elizabeth Worthey, Christine Eng, Euan Ashley, Matthew Wheeler, Peter Stenson, David Cooper, Jonathan Bernstein, Gill Bejerano, ,

<h4>Background</h4> Many thousands of patients with a suspected Mendelian disease have their exomes/genomes sequenced every year, but only about 30% receive a definitive diagnosis. Since a novel Mendelian gene-disease association is published on average every business day, thousands of undiagnosed patient cases could receive a diagnosis each year if their ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Tracy L McGregor, Susan A Berry, Katrina M Dipple, Rizwan Hamid, ,

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a fatty acid oxidation disorder in which the patient is unable to break down fats to produce energy. This disorder places children at risk for metabolic decompensation during periods of stress, such as routine childhood illnesses. The intent of this clinical report is ... Read more >>

Pediatrics (Pediatrics)
[2021, 147(1):]

Cited: 0 times

View full text PDF listing >>



TBX4 Transcription Factor Is a Positive Feedback Regulator of Itself and Phospho-SMAD1/5.

Ying Cai, Ling Yan, Matthew J Kielt, Joy D Cogan, Lora K Hedges, Bethany Nunley, James West, Eric D Austin, Rizwan Hamid,

Am J Respir Cell Mol Biol (American journal of respiratory cell and molecular biology)
[2021, 64(1):140-143]

Cited: 0 times

View full text PDF listing >>



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

Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L Ladda, Susan L Sell, Catherine B Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth Perlman, Arlene V Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A Gahl, Ellen F Macnamara, Lynne Wolfe, , Quinten Waisfisz, Petra J G Zwijnenburg, Alban Ziegler, Magalie Barth, Rosemarie Smith, Sara Ellingwood, Deborah Gaebler-Spira, Somayeh Bakhtiari, Michael C Kruer, Antoine H C van Kampen, Ronald J A Wanders, Hans R Waterham, David Cassiman, Frédéric M Vaz,

<h4>Purpose</h4>In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu).<h4>Methods</h4>Following next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics.<h4>Results</h4>All patients had ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(4):740-750]

Cited: 1 time

View full text PDF listing >>



A retrospective review of the long term clinical outcomes of patients with neurogenic lower urinary tract dysfunction following transverse myelitis.

Sarah Louise Knight, Claire Riley, Yogit Wagh, Frank Lee, Julian Shah, Rizwan Hamid,

<h4>Aims</h4>Transverse myelitis (TM) is an inflammation of the spinal cord which causes neurological deficit in motor, sensory, and autonomic pathways. Persistent neurogenic lower urinary tract dysfunction (NLUTD) is common even where motor and sensory impairment is recovered. Long term follow-up is required to ensure optimal bladder management and protection of ... Read more >>

Neurourol Urodyn (Neurourology and urodynamics)
[2021, 40(1):219-227]

Cited: 0 times

View full text PDF listing >>



DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Laura E Meissner, Ellen F Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, , Carlos R Ferreira, Wadih M Zein, Cynthia J Tifft, David R Adams,

<h4>Background</h4>DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(12):e1544]

Cited: 0 times

View full text PDF listing >>



The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet-Brilhault, Yana Hoorne, Shelagh Joss, Anna K Chassevent, Constance Smith-Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju G Mehta, Wendy K Chung, Koenraad Devriendt, Susan E Holder, Tamison Jewett, Lauren M Baldwin, William G Wilson, Shelley Towner, Siddharth Srivastava, Hannah F Johnson, Cornelia Daumer-Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Al-Beshri, Stephen Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A Sullivan, Vandana Shashi, Suzanne M Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie L Hannig, Gunnar Houge, Veerle Janssens,

<h4>Purpose</h4>Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(2):352-362]

Cited: 0 times

View full text PDF listing >>



Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.

Courtney M Studwell, Emily G Kelley, , Janet S Sinsheimer, Christina G S Palmer, Kimberly LeBlanc,

Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult-onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study ... Read more >>

J Genet Couns (Journal of genetic counseling)
[2021, 30(2):439-447]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
1.5776 s