Scalable Framework for the Analysis of Population Structure Using the Next Generation Sequencing Data
By Hryhorzhevska, Anastasiia and Wiewiórka, Marek and Okoniewski, Michał and Gambin, Tomasz
In
Details Benchmarking distributed data warehouse solutions for storing genomic variant information
By Wiewiórka, Marek S and Wysakowicz, Dawid P and Okoniewski, Michał J and Gambin, Tomasz
In Database
Details Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
By Stray-Pedersen, Asbjørg and Sorte, Hanne Sørmo and Samarakoon, Pubudu and Gambin, Tomasz and Chinn, Ivan K and Akdemir, Zeynep H Coban and Erichsen, Hans Christian and Forbes, Lisa R and Gu, Shen and Yuan, Bo and others
In Journal of Allergy and Clinical Immunology
Details Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
By Gambin, Tomasz and Akdemir, Zeynep C and Yuan, Bo and Gu, Shen and Chiang, Theodore and Carvalho, Claudia and Shaw, Chad and Jhangiani, Shalini and Boone, Philip M and Eldomery, Mohammad K and others
In Nucleic acids research
Details De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
By Küry, Sébastien and Besnard, Thomas and Ebstein, Frédéric and Khan, Tahir N and Gambin, Tomasz and Douglas, Jessica and Bacino, Carlos A and Craigen, William J and Sanders, Stephan J and Lehmann, Andrea and others
In The American Journal of Human Genetics
Details An Organismal CNV Mutator Phenotype Restricted to Early Human Development
By Liu, Pengfei and Yuan, Bo and Carvalho, Claudia MB and Wuster, Arthur and Walter, Klaudia and Zhang, Ling and Gambin, Tomasz and Chong, Zechen and Campbell, Ian M and Akdemir, Zeynep Coban and others
In Cell
Details Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
By Zhang, Jing and Gambin, Tomasz and Yuan, Bo and Szafranski, Przemyslaw and Rosenfeld, Jill A and Al Balwi, Mohammed and Alswaid, Abdulrahman and Al-Gazali, Lihadh and Al Shamsi, Aisha M and Komara, Makanko and others
In Human genetics
Details Lessons learned from additional research analyses of unsolved clinical exome cases
By Eldomery, Mohammad K and Coban-Akdemir, Zeynep and Harel, Tamar and Rosenfeld, Jill A and Gambin, Tomasz and Stray-Pedersen, Asbjørg and Küry, Sébastien and Mercier, Sandra and Lessel, Davor and Denecke, Jonas and others
In Genome medicine
Details Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy-application for TMPRSS3 mutations screen
By Lechowicz, Urszula and Gambin, Tomasz and Pollak, Agnieszka and Podgorska, Anna and Stawinski, Piotr and Franke, Andre and Petersen, Britt-Sabina and Firczuk, Malgorzata and Oldak, Monika and Skarzynski, Henryk and others
In Scientific Reports
Details Whole exome sequencing reveals complex genotypes in hereditary and idiopathic chronic pancreatitis.
By Rygiel, Agnieszka Magdalena and Kujko, Aleksandra and Oracz, Grzegorz and Gambin, Tomasz and Kosinska, Joanna and Wejnarska, Karolina and Wertheim-Tysarowska, Katarzyna and Kolodziejczyk, Elwira and Ploski, Rafal and Bal, Jerzy
In Pancreatology
Details Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
By Zhang, Jing and Gambin, Tomasz and Yuan, Bo and Szafranski, Przemyslaw and Rosenfeld, Jill A and Balwi, MA and Alswaid, Abdulrahman and Al-Gazali, Lihadh and Shamsi, AMA and Komara, Makanko and others
In Human genetics
Details
Scalable Cloud-Based Data Analysis Software Systems for Big Data from Next Generation Sequencing
By Szczerba, Monika and Wiewiórka, Marek S and Okoniewski, Michał J and Rybiński, Henryk
In
Details Hutterite-type cataract maps to chromosome 6p21. 32-p21. 31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death
By Boone, Philip M and Yuan, Bo and Gu, Shen and Ma, Zhiwei and Gambin, Tomasz and Gonzaga-Jauregui, Claudia and Jain, Mahim and Murdock, Todd J and White, Janson J and Jhangiani, Shalini N and others
In Molecular genetics & genomic medicine
Details Whole-exome sequencing in familial Parkinson disease
By Farlow, Janice L and Robak, Laurie A and Hetrick, Kurt and Bowling, Kevin and Boerwinkle, Eric and Coban-Akdemir, Zeynep H and Gambin, Tomasz and Gibbs, Richard A and Gu, Shen and Jain, Preti and others
In JAMA neurology
Details Molecular diagnostic experience of whole-exome sequencing in adult patients
By Posey, Jennifer E and Rosenfeld, Jill A and James, Regis A and Bainbridge, Matthew and Niu, Zhiyv and Wang, Xia and Dhar, Shweta and Wiszniewski, Wojciech and Akdemir, Zeynep HC and Gambin, Tomasz and others
In Genetics in medicine: official journal of the American College of Medical Genetics
Details Multiallelic positions in the human genome: challenges for genetic analyses
By Campbell, Ian M and Gambin, Tomasz and Jhangiani, Shalini N and Grove, Megan L and Veeraraghavan, Narayanan and Muzny, Donna M and Shaw, Chad A and Gibbs, Richard A and Boerwinkle, Eric and Yu, Fuli and others
In Human mutation
Details Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
By Bayram, Yavuz and Karaca, Ender and Akdemir, Zeynep Coban and Yilmaz, Elif Ozdamar and Tayfun, Gulsen Akay and Aydin, Hatip and Torun, Deniz and Bozdogan, Sevcan Tug and Gezdirici, Alper and Isikay, Sedat and others
In The Journal of clinical investigation
Details Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations
By Lalani, Seema R and Liu, Pengfei and Rosenfeld, Jill A and Watkin, Levi B and Chiang, Theodore and Leduc, Magalie S and Zhu, Wenmiao and Ding, Yan and Pan, Shujuan and Vetrini, Francesco and others
In The American Journal of Human Genetics
Details Evidence against ZNF469 being causative for keratoconus in Polish patients
By Karolak, Justyna A and Gambin, Tomasz and Rydzanicz, Malgorzata and Szaflik, Jacek P and Polakowski, Piotr and Frajdenberg, Agata and Mrugacz, Malgorzata and Podfigurna-Musielak, Monika and Stankiewicz, Pawel and Gajecka, Marzena
In Acta ophthalmologica
Details PEHO syndrome may represent phenotypic expansion at the severe end of the early-onset encephalopathies
By Gawlinski, Pawel and Posmyk, Renata and Gambin, Tomasz and Sielicka, Danuta and Chorazy, Monika and Nowakowska, Beata and Jhangiani, Shalini N and Muzny, Donna M and Bekiesinska-Figatowska, Monika and Bal, Jerzy and others
In Pediatric neurology
Details Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
By Szafranski, Przemyslaw and Gambin, Tomasz and Dharmadhikari, Avinash V and Akdemir, Kadir Caner and Jhangiani, Shalini N and Schuette, Jennifer and Godiwala, Nihal and Yatsenko, Svetlana A and Sebastian, Jessica and Madan-Khetarpal, Suneeta and others
In Human genetics
Details Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs
By Patel, Ankita and Rosenfeld-Mokry, J and Gambin, T and Liu, P and Bi, W and Breman, A and Smith, J and Lalani, S and Bacino, C and Beaudet, AL and others
In Cancer Genetics
Details Human genome meeting 2016
By Srivastava, AK and Wang, Y and Huang, R and Skinner, C and Thompson, T and Pollard, L and Wood, T and Luo, F and Stevenson, R and Polimanti, R and others
In Human Genomics
Details CAV3 mutation in a patient with transient hyperCKemia and myalgia
By Macias, Anna and Gambin, Tomasz and Szafranski, Przemyslaw and Jhangiani, Shalini N and Kolasa, Anna and Obersztyn, Ewa and Lupski, James R and Stankiewicz, Pawel and Kaminska, Anna
In Neurologia i neurochirurgia polska
Details Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
By Charng, Wu-Lin and Karaca, Ender and Akdemir, Zeynep Coban and Gambin, Tomasz and Atik, Mehmed M and Gu, Shen and Posey, Jennifer E and Jhangiani, Shalini N and Muzny, Donna M and Doddapaneni, Harsha and others
In BMC medical genomics
Details A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
By Sorte, Hanne S and Osnes, Liv T and Fevang, Børre and Aukrust, Pål and Erichsen, Hans C and Backe, Paul H and Abrahamsen, Tore G and Kittang, Ole B and Øverland, Torstein and Jhangiani, Shalini N and others
In Molecular genetics & genomic medicine
Details Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31. 1–q35. 3 susceptibility locus identified by whole-exome sequencing
By Karolak, Justyna A and Gambin, Tomasz and Pitarque, Jose A and Molinari, Andrea and Jhangiani, Shalini and Stankiewicz, Pawel and Lupski, James R and Gajecka, Marzena
In European Journal of Human Genetics
Details MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
By Eldomery, Mohammad K and Akdemir, Zeynep C and Vögtle, F-Nora and Charng, Wu-Lin and Mulica, Patrycja and Rosenfeld, Jill A and Gambin, Tomasz and Gu, Shen and Burrage, Lindsay C and Al Shamsi, Aisha and others
In Genome medicine
Details Baylor-Johns Hopkins Center for Mendelian genomics: a four year review
By Jhangiani, SN and Akdemir, Z Coban and Bainbridge, MN and Charng, W and Wiszniewski, W and Gambin, T and Karaca, E and Bayram, Y and Eldomery, MK and Posey, J and others
In
Details Two male sibs with severe micrognathia and a missense variant in MED12
By Prescott, Trine E and Kulseth, Mari Ann and Heimdal, Ketil R and Stadheim, Barbro and Hopp, Einar and Gambin, Tomasz and Akdemir, Zeynep H Coban and Jhangiani, Shalini N and Muzny, Donna M and Gibbs, Richard A and others
In European journal of medical genetics
Details
Analysis of AmpliSeq RNA-Sequencing Enrichment Panels
By Wiewiorka, Marek S and Szabelska, Alicja and Okoniewski, Michal J
In
Details Alpha-thalassemia mutations in Adana Province, southern Turkey: genotype-phenotype correlation
By Bozdogan, Sevcan Tug and Yuregir, Ozge Ozalp and Buyukkurt, Nurhilal and Aslan, Huseyin and Ozdemir, Zeynep Canan and Gambin, Tomasz
In Indian Journal of Hematology and Blood Transfusion
Details New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy
By Riveiro-Álvarez, Rosa and Xie, Yajing Angela and López-Martı́nez, Miguel-Ángel and Gambin, Tomasz and Pérez-Carro, Raquel and Ávila-Fernández, Almudena and López-Molina, Marı́a-Isabel and Zernant, Jana and Jhangiani, Shalini and Muzny, Donna and others
In JAMA ophthalmology
Details Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
By Yuan, Bo and Pehlivan, Davut and Karaca, Ender and Patel, Nisha and Charng, Wu-Lin and Gambin, Tomasz and Gonzaga-Jauregui, Claudia and Sutton, V Reid and Yesil, Gozde and Bozdogan, Sevcan Tug and others
In The Journal of clinical investigation
Details Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination
By Startek, Michał and Szafranski, Przemyslaw and Gambin, Tomasz and Campbell, Ian M and Hixson, Patricia and Shaw, Chad A and Stankiewicz, Paweł and Gambin, Anna
In Nucleic acids research
Details Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic bull’s eye maculopathy
By Collison, Frederick T and Xie, Yajing and Gambin, Tomasz and Jhangiani, Shalini and Muzny, Donna and Gibbs, Richard and Lupski, James R and Fishman, Gerald A and Allikmets, Rando
In Ophthalmic genetics
Details FBN1 contributing to familial congenital diaphragmatic hernia
By Beck, Tyler F and Campeau, Philippe M and Jhangiani, Shalini N and Gambin, Tomasz and Li, Alexander H and Abo-Zahrah, Reem and Jordan, Valerie K and Hernandez-Garcia, Andres and Wiszniewski, Wojciech K and Muzny, Donna and others
In American Journal of Medical Genetics Part A
Details Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication
By Beck, Christine R and Carvalho, Claudia MB and Banser, Linda and Gambin, Tomasz and Stubbolo, Danielle and Yuan, Bo and Sperle, Karen and McCahan, Suzanne M and Henneke, Marco and Seeman, Pavel and others
In PLoS genetics
Details Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism
By Bayram, Yavuz and Gulsuner, Suleyman and Guran, Tulay and Abaci, Ayhan and Yesil, Gozde and Gulsuner, Hilal Unal and Atay, Zeynep and Pierce, Sarah B and Gambin, Tomasz and Lee, Ming and others
In The Journal of Clinical Endocrinology & Metabolism
Details DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
By White, Janson and Mazzeu, Juliana F and Hoischen, Alexander and Jhangiani, Shalini N and Gambin, Tomasz and Alcino, Michele Calijorne and Penney, Samantha and Saraiva, Jorge M and Hove, Hanne and Skovby, Flemming and others
In The American Journal of Human Genetics
Details Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
By Bayram, Yavuz and Aydin, Hatip and Gambin, Tomasz and Akdemir, Zeynep Coban and Atik, Mehmed M and Karaca, Ender and Karaman, Ali and Pehlivan, Davut and Jhangiani, Shalini N and Gibbs, Richard A and others
In American Journal of Medical Genetics Part A
Details COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
By Watkin, Levi B and Jessen, Birthe and Wiszniewski, Wojciech and Vece, Timothy J and Jan, Max and Sha, Youbao and Thamsen, Maike and Santos-Cortez, Regie LP and Lee, Kwanghyuk and Gambin, Tomasz and others
In Nature genetics
Details Tu2021 High-Throughput Analyses of Liver Nucleic Acids Failed to Unravel a Common Etiology of Biliary Atresia
By Kellermayer, Richard and Nagy-Szakal, Dorottya and Harris, Ronald A and Tamara, Pereira N and Lewindon, Peter and Jhangiani, Shalini N and Gambin, Tomasz and Harpavat, Sanjiv and Wiszniewski, Wojciech K and Xavier, Daniela Dias and others
In Gastroenterology
Details Secondary findings and carrier test frequencies in a large multiethnic sample
By Gambin, Tomasz and Jhangiani, Shalini N and Below, Jennifer E and Campbell, Ian M and Wiszniewski, Wojciech and Muzny, Donna M and Staples, Jeffrey and Morrison, Alanna C and Bainbridge, Matthew N and Penney, Samantha and others
In Genome Medicine
Details Whole-exome sequencing in patients with STGD (ABCA4)-like phenotypes
By Xie, Yajing and Lee, Winston and Tsang, Stephen H and Fishman, Gerald A and Collison, Frederick T and Riveiro-Alvarez, Rosa and Ayuso, Carmen and Gambin, Tomasz and Lupski, James R and Allikmets, Rando
In Investigative Ophthalmology & Visual Science
Details The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
By Chong, Jessica X and Buckingham, Kati J and Jhangiani, Shalini N and Boehm, Corinne and Sobreira, Nara and Smith, Joshua D and Harrell, Tanya M and McMillin, Margaret J and Wiszniewski, Wojciech and Gambin, Tomasz and others
In The American Journal of Human Genetics
Details Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
By Karaca, Ender and Yuregir, Ozge O and Bozdogan, Sevcan T and Aslan, Huseyin and Pehlivan, Davut and Jhangiani, Shalini N and Akdemir, Zeynep C and Gambin, Tomasz and Bayram, Yavuz and Atik, Mehmed M and others
In American Journal of Medical Genetics Part A
Details Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
By Gonzaga-Jauregui, Claudia and Harel, Tamar and Gambin, Tomasz and Kousi, Maria and Griffin, Laurie B and Francescatto, Ludmila and Ozes, Burcak and Karaca, Ender and Jhangiani, Shalini N and Bainbridge, Matthew N and others
In Cell reports
Details Social cognition, psychopathological symptoms, and family functioning in a sample of inpatient adolescents using variable-centered and person-centered approaches
By Gambin, Malgorzata and Gambin, Tomasz and Sharp, Carla
In Journal of adolescence
Details Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
By Karaca, Ender and Harel, Tamar and Pehlivan, Davut and Jhangiani, Shalini N and Gambin, Tomasz and Akdemir, Zeynep Coban and Gonzaga-Jauregui, Claudia and Erdin, Serkan and Bayram, Yavuz and Campbell, Ian M and others
In Neuron
Details Comparative genomic analyses of the human NPHP1 locus reveal complex genomic architecture and its regional evolution in primates
By Yuan, Bo and Liu, Pengfei and Gupta, Aditya and Beck, Christine R and Tejomurtula, Anusha and Campbell, Ian M and Gambin, Tomasz and Simmons, Alexandra D and Withers, Marjorie A and Harris, R Alan and others
In PLoS genetics
Details
SparkSeq: fast, scalable and cloud-ready tool for the interactive genomic data analysis with nucleotide precision
By Wiewiórka, Marek S and Messina, Antonio and Pacholewska, Alicja and Maffioletti, Sergio and Gawrysiak, Piotr and Okoniewski, Michał J
In Bioinformatics
Details Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
By Wiszniewska, Joanna and Bi, Weimin and Shaw, Chad and Stankiewicz, Pawel and Kang, Sung-Hae L and Pursley, Amber N and Lalani, Seema and Hixson, Patricia and Gambin, Tomasz and Tsai, Chun-hui and others
In European Journal of Human Genetics
Details Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
By Bartnik, Magdalena and Nowakowska, Beata and Derwińska, Katarzyna and Wiśniowiecka-Kowalnik, Barbara and Kędzior, Marta and Bernaciak, Joanna and Ziemkiewicz, Kamila and Gambin, Tomasz and Sykulski, Maciej and Bezniakow, Natalia and others
In Journal of applied genetics
Details Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
By Pham, Justin and Shaw, Chad and Pursley, Amber and Hixson, Patricia and Sampath, Srirangan and Roney, Erin and Gambin, Tomasz and Kang, Sung-Hae L and Bi, Weimin and Lalani, Seema and others
In European Journal of Human Genetics
Details Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
By Pehlivan, Davut and Karaca, Ender and Aydin, Hatip and Beck, Christine R and Gambin, Tomasz and Muzny, Donna M and Geckinli, B Bilge and Karaman, Ali and Jhangiani, Shalini N and others
In European Journal of Human Genetics
Details Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
By Wangler, Michael F and Gonzaga-Jauregui, Claudia and Gambin, Tomasz and Penney, Samantha and Moss, Timothy and Chopra, Atul and Probst, Frank J and Xia, Fan and Yang, Yaping and Werlin, Steven and others
In PLoS genetics
Details Rule-based algorithm transforming OWL ontology into relational database
By Podsiadły-Marczykowska, Teresa and Gambin, Tomasz and Zawiślak, Rafał
In
Details Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
By Karaca, Ender and Weitzer, Stefan and Pehlivan, Davut and Shiraishi, Hiroshi and Gogakos, Tasos and Hanada, Toshikatsu and Jhangiani, Shalini N and Wiszniewski, Wojciech and Withers, Marjorie and Campbell, Ian M and others
In Cell
Details PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
By Stray-Pedersen, Asbjørg and Backe, Paul H and Sorte, Hanne S and Mørkrid, Lars and Chokshi, Niti Y and Erichsen, Hans Christian and Gambin, Tomasz and Elgstøen, Katja BP and Bjørås, Magnar and Wlodarski, Marcin W and others
In The American Journal of Human Genetics
Details New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
By Xie, Yajing and Lee, Winston and Cai, Carolyn and Gambin, Tomasz and Nõupuu, Kalev and Sujirakul, Tharikarn and Ayuso, Carmen and Jhangiani, Shalini and Muzny, Donna and Boerwinkle, Eric and others
In Human molecular genetics
Details A Novel Congenital Disorder of Glycosylation, AGM1-CDG, with TB-NK plus SCID, Neutropenia and Skeletal Dysplasia, Caused by Mutations in the Gene Encoding Phosphoacetylglucosamine Mutase 1
By Chokshi, Niti and Stray-Pedersen, Asbjorg and Sorte, Hanne and Backe, Paul Hoff and Morkid, Lars and Erichsen, Hans Christian and Gambin, Tomasz and Raymond, Kimiyo and Abraham, Shirley and Krance, Robert A and others
In
Details Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
By Bayram, Yavuz and Pehlivan, Davut and Karaca, Ender and Gambin, Tomasz and Jhangiani, Shalini N and Erdin, Serkan and Gonzaga-Jauregui, Claudia and Wiszniewski, Wojciech and Muzny, Donna and Elcioglu, Nursel H and others
In American journal of medical genetics Part A
Details Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
By Stray-Pedersen, Asbjorg and Jouanguy, Emmanuelle and Crequer, Amandine and Bertuch, Alison A and Brown, Betty S and Jhangiani, Shalini N and Muzny, Donna M and Gambin, Tomasz and Sorte, Hanne and Sasa, Ghadir and others
In Journal of clinical immunology
Details Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination
By Campbell, Ian M and Gambin, Tomasz and Dittwald, Piotr and Beck, Christine R and Shuvarikov, Andrey and Hixson, Patricia and Patel, Ankita and Gambin, Anna and Shaw, Chad A and Rosenfeld, Jill A and others
In BMC biology
Details A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
By Yamamoto, Shinya and Jaiswal, Manish and Charng, Wu-Lin and Gambin, Tomasz and Karaca, Ender and Mirzaa, Ghayda and Wiszniewski, Wojciech and Sandoval, Hector and Haelterman, Nele A and Xiong, Bo and others
In Cell
Details Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome
By Karaca, Ender and Buyukkaya, Ramazan and Pehlivan, Davut and Charng, Wu-Lin and Yaykasli, Kursat O and Bayram, Yavuz and Gambin, Tomasz and Withers, Marjorie and Atik, Mehmed M and Arslanoglu, Ilknur and others
In The Journal of Clinical Endocrinology & Metabolism
Details Molecular and clinical analyses of 16q24. 1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
By Dharmadhikari, Avinash V and Gambin, Tomasz and Szafranski, Przemyslaw and Cao, Wenjian and Probst, Frank J and Jin, Weihong and Fang, Ping and Gogolewski, Krzysztof and Gambin, Anna and George-Abraham, Jaya K and others
In BMC medical genetics
Details High Diagnostic Yield by Exome Sequencing of 275 Primary Immunodeficiency Patients
By Stray-Pedersen, A and Sorte, HS and Samarakoon, PS and Forbes, L and Gambin, T and Rodningen, OK and Hanson, IC and Noroski, LM and Davis, C and Seeborg, F and others
In
Details PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Combined Immunodeficiency, Congenital Neutropenia and Skeletal Dysplasia
By Stray-Pedersen, A and Sorte, HS and Backe, PH and Morkrid, L and Chokshi, NY and Erichsen, HC and Abrahamsen, TG and Ronnestad, A and Forbes, LR and Gambin, T and others
In
Details RDH11, a new gene for autosomal recessive retinitis pigmentosa with syndromic features
By Allikmets, Rando and Xie, Yajing and Lee, Winston and Amaro-Quireza, Luz and Gambin, Tomasz and Jhangiani, Shalini N and Yuan, Bo and Lupski, James R and Tsang, Stephen H
In Investigative Ophthalmology & Visual Science
Details CRX mutations in patients with phenotypes resembling Stargardt disease
By Xie, Yajing and Tsang, Stephen H and Ayuso, Carmen and Lee, Winston and Jhangiani, Shalini N and Gambin, Tomasz and Yuan, Bo and Lupski, James R and Allikmets, Rando
In Investigative Ophthalmology & Visual Science
Details Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin
By Wangler, MF and Gonzaga-Jauregui, C and Gambin, T and Penney, S and Moss, T and others
In
Details
Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis
By Dittwald, Piotr and Gambin, Tomasz and Gonzaga-Jauregui, Claudia and Carvalho, Claudia and Lupski, James R and Stankiewicz, Paweł and Gambin, Anna
In Human mutation
Details Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders
By Wiśniowiecka-Kowalnik, Barbara and Kastory-Bronowska, Monika and Bartnik, Magdalena and Derwińska, Katarzyna and Dymczak-Domini, Wanda and Szumbarska, Dorota and Ziemka, Ewa and Szczałuba, Krzysztof and Sykulski, Maciej and Gambin, Tomasz and others
In European Journal of Human Genetics
Details TIRfinder: A Web Tool for Mining Class II Transposons Carrying Terminal Inverted Repeats
By Gambin, Tomasz and Startek, Michał and Walczak, Krzysztof and Paszek, Jarosław and Grzebelus, Dariusz and Gambin, Anna
In Evolutionary Bioinformatics
Details Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability
By Harris, R Alan and Shaw, Chad and Li, Jian and Cheung, Sau Wai and Coarfa, Cristian and Jeong, Mira and Goodell, Margaret A and White, Lisa D and Patel, Ankita and Kang, Sung-Hae and others
In PLoS genetics
Details Functional performance of aCGH design for clinical cytogenetics
By Gambin, Tomasz and Stankiewicz, Paweł and Sykulski, Maciej and Gambin, Anna
In Computers in biology and medicine
Details NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
By Dittwald, Piotr and Gambin, Tomasz and Szafranski, Przemyslaw and Li, Jian and Amato, Stephen and Divon, Michael Y and Rojas, Lisa Ximena Rodrı́guez and Elton, Lindsay E and Scott, Daryl A and Schaaf, Christian P and others
In Genome research
Details Multiple samples aCGH analysis for rare CNVs detection
By Sykulski, Maciej and Gambin, Tomasz and Bartnik, Magdalena and Derwińska, Katarzyna and Wiśniowiecka-Kowalnik, Barbara and Stankiewicz, Paweł and Gambin, Anna
In Journal of clinical bioinformatics
Details
