Carlos A. Bacino
MD
Medical Director, Cytogenetics
Dr. Carlos Bacino serves as the Medical Director of Cytogenetics at Baylor Genetics. With 20 years in the genetic field, Dr. Bacino has experience with clinical genetics, cytogenetics, and molecular testing.
Dr. Bacino graduated from medical school at Facultad De Ciencias Medicas, Universidad de Buenos Aires. Following medical school, Dr. Bacino completed his residency at Beth Isreal Medical Center in New York, NY and completed his clinical fellowship at Cedars-Sinai Medical Center in Los Angeles, CA.
Over the past decade, Dr. Bacino has been involved in the detection, delineation, and treatment of patients with rare disorders driven by technological advances. He is currently involved in the Undiagnosed Disease Network (UDN), an effort sponsored by the National Institutes of Health, and is the master clinician for the UDN grant at the Houston site.
Position
Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States
Vice Chair of Clinical Affairs
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States
Chief
Genetics Service
Texas Children’s Hospital
Houston, TX, United States
Director
Pediatrics Genetics Clinic
Texas Children’s Hospital
Houston, TX, United States
Medical Director
Cytogenetics Laboratory
Baylor Genetics
Houston, TX, United States
Education
Clinical Fellowship at Cedars-Sinai Medical Center
Clinical Genetics and Cytogenetics
Los Angeles, CA, United States
Residency at Beth Israel Medical Center
New York, NY, United States
MD from Facultad De Ciencias Medicas, Universidad de Buenos Aires
Buenos Aires, Argentina
Certifications
Clinical Genetics
American Board of Medical Genetics
Clinical Cytogenetics
American Board of Medical Genetics
Clinical Molecular Genetics
American Board of Medical Genetics
Publications
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Cell. 2017. Feb 23;168(5):830-842.e7. PMID: 28235197
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, et. al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 100(2):352-363. PMID: 28388435
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 13(7):e1006905. PMID: 28742085
Mechanisms for complex chromosomal insertions
Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov 23;12(11):e1006446. PMID: 27880765
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions
Bi W, Cheung SW, Breman AM, Bacino CA. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 Oct;170(10):2540-50. PMID: 27287194
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. PMID: 26805781
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul;115(2-3):91-4. PMID: 25956449
Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome
Bornstein E, Bacino CA, Maliszewski K, Delaney K, Moyal R, Divon MY. Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. J Ultrasound Med. 2014 Jul;33(7):1305-7. PMID: 24958419
Etiopathogenesis of equinovarus foot malformations
Bacino CA, Hecht JT. Etiopathogenesis of equinovarus foot malformations. Eur J Med Genet. 2014 Aug;57(8):473-9. PMID: 24932901
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation
Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. Epub 2014 Aug 8. PMID: 25614868
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013;23(9):1395-409. PMID: 23657883
WDR62 missense mutation in a consanguineous family with primary microcephaly
Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE. WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar;158A(3):622-5. PMID: 22308068
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome
Burrage LC, Person RE, Flores A, et al. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A. 2012;158A:2557–2563. PMID: 22903639
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov;158A(11):2917-24. PMID: 22987818
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
Liu, P., Erez, A., Nagamani, S.C., Dhar, S.U., Kolodziejska, K.E., Dharmadhikari, A.V., Cooper, M.L., Wiszniewska, J., Zhang, F., Withers, M.A., Bacino, C.A., Campos-Acevedo, L.D., Delgado, M.R., Freedenberg, D., Garnica, A., Grebe, T.A., Hernandez-Almaguer, D., Immken, L., Lalani, S.R., McLean, S.D., Northrup, H., Scaglia, F., Strathearn, L., Trapane, P., Kang, S.H., Patel, A., Cheung, S.W., Hastings, P.J., Stankiewicz, P., Lupski, J.R., and Bi, W. (2011). Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146, 889-903. PMID: 21925314
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?. Hum. Mutat.. 2010 July;31(7):840-50. Pubmed PMID: 20506139
Detection of clinically relevant exonic copy-number changes by array CGH
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski. Detection of clinically relevant exonic copy-number changes by array CGH.. Hum. Mutat.. 2010 December;31(12):1326-42. Pubmed PMID: 20848651
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems
Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino. Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems.. Am. J. Hum. Genet.. 2010 December 10;87(6):857-65. Pubmed PMID: 21109226
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am. J. Med. Genet. A. 2010 July;152(7):1825-31. Pubmed PMID: 20583181
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 87:708-712, 2010. PMID: 21035103
Common recurrent microduplication syndromes: diagnosis and management in clinical practice
Berg JS, Potocki L, Bacino CA. Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet 152A:1066-1078, 2010. PMID: 20425813
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203. PMID: 19324899
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome
Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet A. 2009 December;149(12):2723-30. PMID: 19938085
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients
Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 September;149(9):1916-21. PMID: 19676059
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 November 1;146(21):2804-9. Pubmed PMID: 18831060
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.. Am. J. Med. Genet. A. 2007 August 1;143(15):1679-86. Pubmed PMID: 17607705
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE. 2007;2(3):e327. Pubmed PMID: 17389918
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007;72(4):329-38. PMID: 17850629
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter
Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 April;66(4):1461-4. Pubmed PMID: 10739772
Carlos A. Bacino
MD
Medical Director, Cytogenetics
Dr. Carlos Bacino serves as the Medical Director of Cytogenetics at Baylor Genetics. With 20 years in the genetic field, Dr. Bacino has experience with clinical genetics, cytogenetics, and molecular testing.
Dr. Bacino graduated from medical school at Facultad De Ciencias Medicas, Universidad de Buenos Aires. Following medical school, Dr. Bacino completed his residency at Beth Isreal Medical Center in New York, NY and completed his clinical fellowship at Cedars-Sinai Medical Center in Los Angeles, CA.
Over the past decade, Dr. Bacino has been involved in the detection, delineation, and treatment of patients with rare disorders driven by technological advances. He is currently involved in the Undiagnosed Disease Network (UDN), an effort sponsored by the National Institutes of Health, and is the master clinician for the UDN grant at the Houston site.
Position
Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States
Vice Chair of Clinical Affairs
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States
Chief
Genetics Service
Texas Children’s Hospital
Houston, TX, United States
Director
Pediatrics Genetics Clinic
Texas Children’s Hospital
Houston, TX, United States
Medical Director
Cytogenetics Laboratory
Baylor Genetics
Houston, TX, United States
Education
Clinical Fellowship at Cedars-Sinai Medical Center
Clinical Genetics and Cytogenetics
Los Angeles, CA, United States
Residency at Beth Israel Medical Center
New York, NY, United States
MD from Facultad De Ciencias Medicas, Universidad de Buenos Aires
Buenos Aires, Argentina
Certifications
Clinical Genetics
American Board of Medical Genetics
Clinical Cytogenetics
American Board of Medical Genetics
Clinical Molecular Genetics
American Board of Medical Genetics
Publications
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Cell. 2017. Feb 23;168(5):830-842.e7. PMID: 28235197
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, et. al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 100(2):352-363. PMID: 28388435
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 13(7):e1006905. PMID: 28742085
Mechanisms for complex chromosomal insertions
Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov 23;12(11):e1006446. PMID: 27880765
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions
Bi W, Cheung SW, Breman AM, Bacino CA. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 Oct;170(10):2540-50. PMID: 27287194
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. PMID: 26805781
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul;115(2-3):91-4. PMID: 25956449
Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome
Bornstein E, Bacino CA, Maliszewski K, Delaney K, Moyal R, Divon MY. Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. J Ultrasound Med. 2014 Jul;33(7):1305-7. PMID: 24958419
Etiopathogenesis of equinovarus foot malformations
Bacino CA, Hecht JT. Etiopathogenesis of equinovarus foot malformations. Eur J Med Genet. 2014 Aug;57(8):473-9. PMID: 24932901
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation
Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. Epub 2014 Aug 8. PMID: 25614868
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013;23(9):1395-409. PMID: 23657883
WDR62 missense mutation in a consanguineous family with primary microcephaly
Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE. WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar;158A(3):622-5. PMID: 22308068
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome
Burrage LC, Person RE, Flores A, et al. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A. 2012;158A:2557–2563. PMID: 22903639
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov;158A(11):2917-24. PMID: 22987818
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
Liu, P., Erez, A., Nagamani, S.C., Dhar, S.U., Kolodziejska, K.E., Dharmadhikari, A.V., Cooper, M.L., Wiszniewska, J., Zhang, F., Withers, M.A., Bacino, C.A., Campos-Acevedo, L.D., Delgado, M.R., Freedenberg, D., Garnica, A., Grebe, T.A., Hernandez-Almaguer, D., Immken, L., Lalani, S.R., McLean, S.D., Northrup, H., Scaglia, F., Strathearn, L., Trapane, P., Kang, S.H., Patel, A., Cheung, S.W., Hastings, P.J., Stankiewicz, P., Lupski, J.R., and Bi, W. (2011). Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146, 889-903. PMID: 21925314
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?. Hum. Mutat.. 2010 July;31(7):840-50. Pubmed PMID: 20506139
Detection of clinically relevant exonic copy-number changes by array CGH
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski. Detection of clinically relevant exonic copy-number changes by array CGH.. Hum. Mutat.. 2010 December;31(12):1326-42. Pubmed PMID: 20848651
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems
Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino. Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems.. Am. J. Hum. Genet.. 2010 December 10;87(6):857-65. Pubmed PMID: 21109226
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am. J. Med. Genet. A. 2010 July;152(7):1825-31. Pubmed PMID: 20583181
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 87:708-712, 2010. PMID: 21035103
Common recurrent microduplication syndromes: diagnosis and management in clinical practice
Berg JS, Potocki L, Bacino CA. Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet 152A:1066-1078, 2010. PMID: 20425813
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203. PMID: 19324899
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome
Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet A. 2009 December;149(12):2723-30. PMID: 19938085
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients
Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 September;149(9):1916-21. PMID: 19676059
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 November 1;146(21):2804-9. Pubmed PMID: 18831060
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.. Am. J. Med. Genet. A. 2007 August 1;143(15):1679-86. Pubmed PMID: 17607705
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE. 2007;2(3):e327. Pubmed PMID: 17389918
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007;72(4):329-38. PMID: 17850629
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter
Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 April;66(4):1461-4. Pubmed PMID: 10739772