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
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

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. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 Feb 23;168(5):830. PMID: 28235197

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

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

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

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 literaturePrenat. 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 literaturePrenat. 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

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

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

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 casesPLoS 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
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

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. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 Feb 23;168(5):830. PMID: 28235197

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

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

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

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 literaturePrenat. 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 literaturePrenat. 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

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

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

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 casesPLoS 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

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