Johanna Rommens
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Computer Science
Johanna Rommens's Degrees
- PhD Computer Science Stanford University
- Masters Computer Science University of California, Berkeley
- Bachelors Computer Science University of California, Berkeley
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Why Is Johanna Rommens Influential?
(Suggest an Edit or Addition)According to Wikipedia, Johanna Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis . She later discovered the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that causes pancreatic and hematologic problems. She is a Senior Scientist Emeritus at SickKids Research Institute and a professor in the Department of Molecular Genetics at the University of Toronto.
Johanna Rommens's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA (1989) (4149)
- Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease (1995) (4114)
- Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. (1989) (3650)
- Identification of the cystic fibrosis gene: chromosome walking and jumping. (1989) (3207)
- Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis (1989) (2735)
- Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene (1995) (2057)
- The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene (1993) (1835)
- Identification of the cystic fibrosis gene: genetic analysis. (1989) (1687)
- Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice (1997) (1324)
- Bone progenitor dysfunction induces myelodysplasia and secondary leukemia (2010) (1023)
- The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds (1996) (866)
- De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome (1997) (817)
- The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). (1990) (706)
- Mutations in SBDS are associated with Shwachman–Diamond syndrome (2003) (682)
- Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly (1996) (656)
- Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy (1998) (612)
- Mammographic breast density as an intermediate phenotype for breast cancer. (2005) (571)
- A candidate prostate cancer susceptibility gene at chromosome 17p (2001) (568)
- Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer (1990) (554)
- Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (1991) (537)
- Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene (2013) (521)
- Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance (1991) (457)
- Genetic determination of exocrine pancreatic function in cystic fibrosis. (1992) (452)
- Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly (1999) (423)
- Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. (1990) (421)
- Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. (1998) (378)
- BRCA2 germline mutations in male breast cancer cases and breast cancer families (1996) (363)
- Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families (1994) (325)
- Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. (1998) (314)
- Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type (2006) (314)
- Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. (1996) (299)
- ATPase Activity of the Cystic Fibrosis Transmembrane Conductance Regulator* (1996) (275)
- Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis (2015) (235)
- Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions (1997) (234)
- Multi-ion pore behaviour in the CFTR chloride channel (1993) (234)
- Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 (2011) (221)
- Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. (1999) (216)
- Human Chromosome 7: DNA Sequence and Biology (2003) (208)
- Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. (1996) (204)
- Rapid nonradioactive detection of the major cystic fibrosis mutation. (1990) (201)
- Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis (2012) (187)
- Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 (1997) (180)
- Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome (2011) (179)
- Cloning and Characterization of PDK4 on 7q21.3 Encoding a Fourth Pyruvate Dehydrogenase Kinase Isoenzyme in Human* (1996) (175)
- The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR (1993) (169)
- Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (1991) (166)
- Phosphatase inhibitors activate normal and defective CFTR chloride channels. (1994) (155)
- Genetic Modifiers of Cystic Fibrosis–Related Diabetes (2013) (149)
- Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (2001) (137)
- Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. (1997) (137)
- Structural and Mutational Analysis of the SBDS Protein Family (2005) (124)
- The Shwachman-Bodian-Diamond Syndrome Protein Family Is Involved in RNA Metabolism* (2005) (119)
- Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (1996) (118)
- Presenilins Interact with Armadillo Proteins Including Neural‐Specific Plakophilin‐Related Protein and β‐Catenin (1999) (115)
- Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality (2006) (111)
- Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities (2014) (102)
- Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. (1993) (101)
- Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (2017) (101)
- Mammographic density: a heritable risk factor for breast cancer. (2009) (99)
- DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. (1989) (98)
- cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator. (1991) (97)
- A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. (2008) (95)
- Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. (2002) (87)
- Determinants of the Nuclear Localization of the Heterodimeric DNA Fragmentation Factor (Icad/Cad) (2000) (86)
- Shwachman-Diamond syndrome: report from an international conference. (2002) (85)
- A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (1991) (81)
- Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. (2010) (81)
- Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics (2016) (80)
- Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. (2009) (80)
- ClC-2 Contributes to Native Chloride Secretion by a Human Intestinal Cell Line, Caco-2* (2001) (77)
- Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. (1988) (75)
- Evidence for a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis–Related Diabetes: A Mendelian Randomization Study (2014) (72)
- A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (1999) (70)
- Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. (1997) (69)
- The XRCC2 DNA repair gene: identification of a positional candidate. (1997) (68)
- The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR. (1993) (63)
- Mammographic breast density and breast cancer: evidence of a shared genetic basis. (2012) (61)
- Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis. (2016) (59)
- Episomal expression of wild-type CFTR corrects cAMP-dependent chloride transport in respiratory epithelial cells. (1996) (57)
- Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia (2017) (56)
- Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]. (1994) (54)
- Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. (2007) (54)
- Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex. (1994) (53)
- Amplification of CFTR exon 9 sequences to multiple locations in the human genome. (1997) (52)
- DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. (1989) (51)
- Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes (2015) (51)
- The Chloride Channel ClC-4 Co-localizes with Cystic Fibrosis Transmembrane Conductance Regulator and May Mediate Chloride Flux across the Apical Membrane of Intestinal Epithelia* (2002) (50)
- Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci (2019) (50)
- Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. (2009) (50)
- Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis (2019) (49)
- The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. (2010) (47)
- Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (2015) (46)
- Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease (1993) (44)
- Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. (2006) (44)
- A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways (2015) (44)
- Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis. (2015) (43)
- An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. (1993) (43)
- Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. (2000) (43)
- Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. (2012) (42)
- Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. (2011) (42)
- A transcription map of the region containing the Huntington disease gene. (1993) (41)
- SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention (2017) (40)
- Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. (1995) (39)
- Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (1999) (38)
- Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. (1996) (38)
- Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations. (1993) (37)
- In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency (2015) (36)
- Genomic organization of the human α-adducin gene and its alternately spliced isoforms (1995) (35)
- GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. (1998) (35)
- Identification of a novel percent mammographic density locus at 12q24. (2012) (35)
- Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. (1991) (34)
- Chromosomal localization of the human homeo box-containing genes, EN1 and EN2. (1989) (33)
- Human Homologs of Ubc6p Ubiquitin-conjugating Enzyme and Phosphorylation of HsUbc6e in Response to Endoplasmic Reticulum Stress* (2006) (30)
- Non-CFTR chloride channels likely contribute to secretion in the murine small intestine (2001) (29)
- Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits. (2019) (28)
- Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis. (1989) (28)
- Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes. (2015) (27)
- Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene (2002) (25)
- Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk (2016) (25)
- Breast cancer in a case of Shwachman Diamond syndrome (2012) (24)
- Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. (1996) (23)
- SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion (2018) (20)
- LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS (2020) (20)
- Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region. (1993) (19)
- Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis (2019) (18)
- Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X (2007) (17)
- Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35 (1995) (15)
- Progress towards cloning the cystic fibrosis gene. (1988) (15)
- A genome-wide linkage study of mammographic density, a risk factor for breast cancer (2011) (15)
- Cystic Fibrosis Mutations Lead to Carboxyl-terminal Fragments That Highlight an Early Biogenesis Step of the Cystic Fibrosis Transmembrane Conductance Regulator* (2000) (14)
- Towards a Transcriptional Map of the q21-q22 Region of Chromosome 7 (1994) (14)
- Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. (1999) (14)
- Corrigendum: The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene (1994) (12)
- Evidence of a Generalized Defect of Acinar Cell Function in Shwachman-Diamond Syndrome (2010) (12)
- Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3. (1996) (12)
- Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth (2021) (12)
- A YAC Contig Spanning the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome and Propionic Acidemia Loci (1997) (12)
- Two homologous genes causing early-onset familial Alzheimer's disease. (1996) (11)
- Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation (2000) (10)
- Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization. (1990) (10)
- Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms. (1995) (10)
- Cloning of a new gene (FB19) within HLA class I region. (1998) (9)
- Genetic Determination ofExocrine Pancreatic Function inCystic Fibrosis (1992) (8)
- Improving imputation in disease-relevant regions: lessons from cystic fibrosis (2018) (8)
- De Novo Mutations Causing Shwachman-Diamond Syndrome and a Founder Mutation in SBDS in the French Canadian Population (2014) (8)
- Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry (2013) (7)
- Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity (2021) (6)
- Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients. (2019) (6)
- Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. (1997) (6)
- SERUM PANCREATIC ENZYMES IN PATIENTS WITH SHWACHMAN-DIAMOND SYNDROME (1999) (6)
- Mapping of the Ras-GRF2 gene (GRF2) to mouse chromosome 13C3-D1 and human chromosome 5q13, near the Ras-GAP gene. (1997) (6)
- Editorial overview: Molecular and genetic bases of disease: Enter the post-GWAS era. (2015) (5)
- Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene. (1997) (5)
- Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110). (1993) (5)
- Physical and transcription map in the region 14q24.3: identification of six novel transcripts. (1997) (4)
- Bias in CFTR screening panels (2015) (4)
- Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants. (2022) (4)
- Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22) (1998) (4)
- Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics. (2016) (3)
- Right-angle light scattering to assay basal and regulated plasma membrane Cl- conductances. (1992) (3)
- Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type (2006) (3)
- Molecular genetics of cystic fibrosis. (1991) (3)
- LocusFocus: A web-based colocalization tool for the annotation and functional follow-up of GWAS (2020) (2)
- Expression of cystic fibrosis lung disease modifier genes in human airway models. (2022) (2)
- Shwachman-Diamond Syndrome: Development of a North American Registry to Assess Long-Term Outcomes, Risk of Leukemia and Other Complications. (2009) (2)
- Improving imputation in disease-relevant regions: lessons from cystic fibrosis (2018) (2)
- SLC 6 A 14 , an amino acid transporter , modifies the primary 1 CF defect in fluid secretion . 2 (1)
- CANADIAN PIONEERS: Lap-Chee Tsui (2008) (1)
- Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease (2022) (1)
- Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells (1990) (1)
- Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities (2013) (1)
- Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease (2021) (1)
- 215. Two homologous genes associated with early onset familial Alzheimer's disease (1996) (1)
- Genomic analyses of three regions of increased copy number discovered using CGH (1997) (1)
- Presenilin Proteins and the Pathogenesis of Early-Onset Familial Alzheimer’s Disease: β-Amyloid Production and Parallels to Prion Diseases (1998) (1)
- Genes and genomes unclothed!: Genome Analysis: A Laboratory Manual (Vol. 1) Analyzing DNA (Vol. 2) Detecting Genes edited by B. Birren, E.D. Green, S. Klapholz, R. M. Myers, J. Roskams (1999) (1)
- De Novo Mutations Causing Shwachman-Diamond Syndrome and a Founder Mutation in SBDS in the (2014) (1)
- Cystic Fibrosis Gene: Identification (2005) (1)
- Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth (2021) (0)
- Quebec Platelet Disorder Is Caused by a Cis-Acting Mutation near the Plasminogen Activator Gene (PLAU) That Increases PLAU Transcription by Megakaryocytes. (2008) (0)
- Role of SLC6A14 as a Modifier of Cystic Fibrosis Phenotype (2013) (0)
- Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia (2017) (0)
- Genetic sequences and proteins related to alzheimer's disease, and its use of themselves. (1996) (0)
- O IX.2 Molecular cloning and functional characterization of the human XRCC2 DNA repair gene (1997) (0)
- Genetic sequences and proteins related to alzheimer's disease, and uses therefor (1997) (0)
- SHWACHMAN SYNDROME: CLINICAL MANIFESTATIONS IN 88 PATIENTS: 7 (1997) (0)
- megakaryocytes activator gene (PLAU) and increases expression of the linked allele in Quebec platelet disorder is linked to the urokinase plasminogen (2013) (0)
- CHARACTERIZATION OF ZHX 1 IN AXILLARY LYMPH NODE-NEGATIVE BREAST CANCER (2012) (0)
- WS13.1 Patients with mutations that permit 3% or more of wild-type CFTR function are associated with higher FEV1 (2014) (0)
- Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis (2023) (0)
- Mouse Model for Shwachman-Diamond Syndrome with the R126T Disease Mutation Leads to Severe Growth and Developmental Deficiencies with Impairment of Hematopoiesis. (2006) (0)
- A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expression (2022) (0)
- Seven year experience of clinical diagnostic testing for SBDS mutations causing Shwachman-Diamond Syndrome (2011) (0)
- SLC6A14 Modifies Fluid Secretory Capacity of Cystic Fibrosis Affected Epithelium by Enhancing CFTR Channel Function (2015) (0)
- Studies Toward the Isolation of the RP3 Gene (1993) (0)
- Sbds Deficient Neutrophils Exhibit Normal Numbers, Chemotaxis and Phagocytic Functions, but Impaired NADPH Oxidase Activity. (2006) (0)
- Author response: SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion (2018) (0)
- Reply to coates and bush (2004) (0)
- Gene de predisposition au cancer du sein lie au chromosome 13 (1996) (0)
- Genetic sequences and problems related to Alzheimer's disease, and the use thereof (1996) (0)
- Generation of a transcription map from the 17q21 region containing the BRCA1 locus (1994) (0)
- Chromosome 13 associated Brustkrebsempfindlichkeitsgen BRCA2 (1996) (0)
- Title Exon skipping through the creation of a putative exonic splicingsilencer as a consequence of the cystic fibrosis mutation R 553 X (2007) (0)
- Genetic sequences and proteins related to Alzheimer disease and applications thereof (1996) (0)
- Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. (1995) (0)
- SLC6A14 Enhances CFTR Channel Activity in the Cystic Fibrosis Affected Lung Epithelium (2016) (0)
- Effects of Glucocorticoid Immunosuppression on Se- rum Cystatin C Concentrations in Renal Transplant (2001) (0)
- Deletion of Sbds from Hematopoietic Progenitors Causes Neutropenia in a Mouse Model of Shwachman-Diamond Syndrome By Specifically Blocking Myeloid Lineage Progression at Late Differentiation Stages (2014) (0)
- BRCA2 susceptibility gene breast cancer linked to chromosome 13. (1996) (0)
- 12* The relation between meconium ileus prevalence score and functional severity of CFTR mutations (2011) (0)
- Identification of ATP7B (2019) (0)
- PROGRESS TOWARDS CLONING OF THE CYSTIC FIBROSIS GENE — IDENTIFICATION OF NEW DNA MARKERS IN THE 7Q31 REGION (1987) (0)
- 601 Two homologous genes associated with early onset familial Alzheimer's disease (1996) (0)
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